Langerhan's Cell Histiocytosis
Langerhan's Cell Histiocytosis (also known as Histiocytosis X) is a rare disease. It is not really a cancer, though it may behave like one in some respects. Histiocytes are normal cells found throughout the body, in this disease abnormally large numbers are found. LCH is more common in children but it is often seen in adults too. The disease will be classed as either single-system or multi-system depending on how many of the body's systems are effected.
In a study of 314 people treated for LCH at the Mayo Clinic (Howarth et al, Cancer 1999;85:2278-90) 69% had single-system disease and 31% had multi-system LCH. Approximately half of those treated at Mayo were under 25 years old at diagnosis. Of people with single-system disease the system involved was bone (52%), pulmonary (lung) (40%), skin/mucous membrane (7%) and other sites (1%). Bone involvement was more common in younger patients while pulmonary involvement was mostly seen in those over 15 years old at diagnosis.
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Langerhans Cell Histiocytosis Treatment
National Cancer Institute
PDQ summaries are written and frequently updated by editorial boards of experts Further info.
Langerhans' cell histiocytosis (LCH) in children
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Centres for Disease Control and Prevention (CDC)
Information and links about cervical cancer screening.
Histiocytosis Association of Canada
A charity registered in 1991 to promote and fund scientific research into uncovering not only the causes of the histiocytosis diseases, Langerhans' Cell Histiocytosis and Haemophagocytic Lymphohistiocytosis, but also ensuring early diagnosis, effective treatment and a cure.
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PubMed Central search for free-access publications about Langerhans Cell Histiocytosis
MeSH term: Histiocytosis, Langerhans-Cell
US National Library of MedicinePubMed has over 22 million citations for biomedical literature from MEDLINE, life science journals, and online books. Constantly updated.
A global nonprofit organization dedicated to addressing the unique needs of patients and families dealing with the effects of histiocytic disorders while leading the search for a cure. Founded in 1986, now has aproximately 7,000 members.
Langerhans Cell Histiocytosis Treatment
National Cancer InstitutePDQ summaries are written and frequently updated by editorial boards of experts Further info.
Langerhans' Cell Histiocytosis
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BRAF, a piece of the LCH puzzle
Blood
Commentary on a paper by Badalian-Very, which provides exciting insights into LCH by demonstrating that a subset of cases exhibit somatic mutations in the BRAF proto-oncogene. Free access for personal use only.
Medscape
Referenced article by Cameron Tebb and Max Coppes covering background, presentation, diagnosis, workup, treatment and follow-up.
Medscape
Detailed referenced article by Christopher Shea and William James covering background, presentation, diagnosis, workup, treatment, and follow-up.
Latest Research Publications
This list of publications is regularly updated (Source: PubMed).
Kim JE, Yi WJ, Heo MS, et al.
Langerhans cell histiocytosis of the jaw, a mimicker of osteomyelitis on CT and MR images: A retrospective analysis.
Medicine (Baltimore). 2019; 98(27):e16331 [PubMed] Free Access to Full Article Related Publications
Langerhans cell histiocytosis of the jaw, a mimicker of osteomyelitis on CT and MR images: A retrospective analysis.
Medicine (Baltimore). 2019; 98(27):e16331 [PubMed] Free Access to Full Article Related Publications
Differential diagnosis of Langerhans Cell Histiocytosis (LCH) in the jaw is essential for early treatment including systemic therapy. Records of 17 patients (6 men and 11 women; mean age, 14 years) with histologically confirmed LCH were reviewed. All the lesions occurred in the mandible. Most of the cases (n=12) were intraosseous type LCH, only 5 patients had alveolar type LCH. Patients complained of facial swelling and pain most likely. In the 14 patients who underwent CT and/or MR imaging, all LCH lesions were osteolytic, with a mean size of 23 mm. LCH presented as expansile lesions with periosteal new bone formation, perilesional sclerosis, fluid attenuation/signal within the lesion, and inflammatory changes in adjacent soft tissues on CT/MR images. Considering the major symptoms of LCH were swelling and pain, the differential diagnosis of LCH from osteomyelitis might be more difficult. The differential diagnosis for osteolytic lesions of the jaw with surrounding inflammatory changes should include LCH, especially in young patients.
Gargano F, Welch JJ, Klinge PM, et al.
Langerhans Cell Histiocytosis in the Pediatric Population: Treatment of Isolated Craniofacial Lesions.
J Craniofac Surg. 2019; 30(4):1191-1193 [PubMed] Related Publications
Langerhans Cell Histiocytosis in the Pediatric Population: Treatment of Isolated Craniofacial Lesions.
J Craniofac Surg. 2019; 30(4):1191-1193 [PubMed] Related Publications
Langerhans cell histiocytosis (LCH) commonly affects the craniofacial skeleton and prognosis depends on location, extension, and recurrence of the disease. The aim of our study is to better define the treatment of single craniofacial lesions, as to date different treatment modalities have been suggested and recurrence rates for both unifocal and multifocal bony lesion range between 10% and 70%. Between 2000 and 2014, we retrospectively reviewed clinical findings, anatomic location, extent of the disease, therapy, and outcomes in 24 pediatric patients with histologically confirmed LCH. Seventeen patients (67%) had craniofacial involvement, of which 13 had single system involvement and 4 had multisystem involvement. Eight patients (33%) had no craniofacial involvement. Eleven patients affected by unifocal cranial lesions were treated with resection and reconstruction. One patient with a unifocal mastoid lesion was treated with chemotherapy alone (vinblastine and prednisone). Four patients with mandible lesions were treated with curettage alone.There were no recurrences in patients treated with excision alone. One patient (25%) treated with curettage recurred. Two patients with diffuse disease manifested organ dysfunction and diabetes insipidus. Chemotherapy was tolerated in 12 patients treated.Our findings suggest that resection of isolated LCH lesions of the cranium is safe and chemotherapy is effective and well tolerated for nonsurgical cases.
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Vinblastine
Rao J, Rao Y, Wang C, et al.
Cervical langerhans cell histiocytosis mimicking cervical tuberculosis: A Case report.
Medicine (Baltimore). 2019; 98(20):e15690 [PubMed] Free Access to Full Article Related Publications
Cervical langerhans cell histiocytosis mimicking cervical tuberculosis: A Case report.
Medicine (Baltimore). 2019; 98(20):e15690 [PubMed] Free Access to Full Article Related Publications
RATIONALE: Langerhans cell histiocytosis (LCH) involving adult cervical vertebrae is relatively rare clinically.
PATIENT CONCERNS: An 18-year-old male patient exhibited a 1-month history of neck pain, restricted neck mobility, and numbness and weakness of both upper limbs. The patient reported no pain at other sites, exhibited no fever or night sweats, and was unable to recall any recent injury.
DIAGNOSES: On the basis of the radiological features of the lesion and laboratory tests, there was a high possibility that the patient had a tuberculosis lesion. Postoperative GeneXpert and Mycobacterium tuberculosis (MTB) culture results showed MTB negative. Postoperative pathological results showed: (Cervical 4 vertebrae) LCH.
INTERVENTIONS: Our department did an anterior approach operation. The patient was treated with prednisone combined with vincristine after operation.
OUTCOMES: The patient was discharged from the hospital with complete remission of cervical pain and rapid relief of neurological symptoms.
LESSONS: Computed tomography-guided biopsy of lesion tissue must be performed when a suspected infection occurs in young patients. If possible, the lesion tissue obtained during the operation should be cultured and pathologically examined for early diagnosis.
PATIENT CONCERNS: An 18-year-old male patient exhibited a 1-month history of neck pain, restricted neck mobility, and numbness and weakness of both upper limbs. The patient reported no pain at other sites, exhibited no fever or night sweats, and was unable to recall any recent injury.
DIAGNOSES: On the basis of the radiological features of the lesion and laboratory tests, there was a high possibility that the patient had a tuberculosis lesion. Postoperative GeneXpert and Mycobacterium tuberculosis (MTB) culture results showed MTB negative. Postoperative pathological results showed: (Cervical 4 vertebrae) LCH.
INTERVENTIONS: Our department did an anterior approach operation. The patient was treated with prednisone combined with vincristine after operation.
OUTCOMES: The patient was discharged from the hospital with complete remission of cervical pain and rapid relief of neurological symptoms.
LESSONS: Computed tomography-guided biopsy of lesion tissue must be performed when a suspected infection occurs in young patients. If possible, the lesion tissue obtained during the operation should be cultured and pathologically examined for early diagnosis.
Feng YM, Li YS, Li YL, et al.
Successful management of isolated pulmonary Langerhans cell histiocytosis in a 50-year-old man with early diagnosis using transbronchial cryobiopsy: A case report.
Medicine (Baltimore). 2019; 98(15):e15240 [PubMed] Free Access to Full Article Related Publications
Successful management of isolated pulmonary Langerhans cell histiocytosis in a 50-year-old man with early diagnosis using transbronchial cryobiopsy: A case report.
Medicine (Baltimore). 2019; 98(15):e15240 [PubMed] Free Access to Full Article Related Publications
RATIONALE: Isolated pulmonary Langerhans cell histiocytosis (PLCH) is rare in adults. The gold standard diagnosis requires surgical lung biopsy. However, few cases have been diagnosed with transbronchial cryobiopsy (TBCB) sampling in the early stages of the disease, particularly in China.
PRESENTING CONCERNS: A 50-year-old man was referred for dry cough and exertional dyspnea of more than 1 week. High-resolution computed tomography (HRCT) of the chest revealed symmetric nodules and cyst lesions with upper lobe infiltrate. Further history taking indicated that he had smoked 20 cigarettes per day for more than 30 years. Therefore, PLCH was highly suspected. However, he refused surgical lung biopsy, and TBCB was attempted to complete diagnosis.
DIAGNOSIS: Emission computed tomography excluded the possibility of extrapulmonary involvements, and pathological findings supported the diagnosis of isolated PLCH.
INTERVENTIONS: Smoking cessation and prednisone treatment were used for patient management.
OUTCOMES: The symptoms receded with significant improvement of chest HRCT during 2-months of follow-up.
LESSONS: Early diagnosis contributes to the prognosis of isolated PLCH in adults, and TBCB may be an alternative to conventional surgical lung biopsy for pathological diagnosis of PLCH.
PRESENTING CONCERNS: A 50-year-old man was referred for dry cough and exertional dyspnea of more than 1 week. High-resolution computed tomography (HRCT) of the chest revealed symmetric nodules and cyst lesions with upper lobe infiltrate. Further history taking indicated that he had smoked 20 cigarettes per day for more than 30 years. Therefore, PLCH was highly suspected. However, he refused surgical lung biopsy, and TBCB was attempted to complete diagnosis.
DIAGNOSIS: Emission computed tomography excluded the possibility of extrapulmonary involvements, and pathological findings supported the diagnosis of isolated PLCH.
INTERVENTIONS: Smoking cessation and prednisone treatment were used for patient management.
OUTCOMES: The symptoms receded with significant improvement of chest HRCT during 2-months of follow-up.
LESSONS: Early diagnosis contributes to the prognosis of isolated PLCH in adults, and TBCB may be an alternative to conventional surgical lung biopsy for pathological diagnosis of PLCH.
Nann D, Schneckenburger P, Steinhilber J, et al.
Pediatric Langerhans cell histiocytosis: the impact of mutational profile on clinical progression and late sequelae.
Ann Hematol. 2019; 98(7):1617-1626 [PubMed] Related Publications
Pediatric Langerhans cell histiocytosis: the impact of mutational profile on clinical progression and late sequelae.
Ann Hematol. 2019; 98(7):1617-1626 [PubMed] Related Publications
Langerhans cell histiocytosis (LCH) is a clonal histiocytic disorder with recurrent mutations of BRAF and MAP2K1, but data on the impact of genetic features on progression and long-term sequelae are sparse. Cases of pediatric LCH with long-term follow-up from our institution were analyzed for mutations in BRAF
Idrissa S, Cherrabi H, Efared B, et al.
Langerhans cell histiocytosis presenting as eosinophilic granuloma of the bilateral forearms in an 8-year-old girl: a case report.
J Med Case Rep. 2019; 13(1):67 [PubMed] Free Access to Full Article Related Publications
Langerhans cell histiocytosis presenting as eosinophilic granuloma of the bilateral forearms in an 8-year-old girl: a case report.
J Med Case Rep. 2019; 13(1):67 [PubMed] Free Access to Full Article Related Publications
BACKGROUND: Langerhans cell histiocytosis previously known as histiocytosis X is a rare disease of children and young adults with a very broad clinical spectrum. In children, its annual incidence is estimated between 0.2-0.5 per 100,000.
CASE REPRESENTATION: An 8-year-old Moroccan girl with no known personal or family history presented to our institution with painful swelling of both forearms. An X-ray and magnetic resonance imaging were inconclusive. We then performed a biopsy curettage (of her left forearm). Microscopic analysis followed by immunohistochemical analysis disclosed a diagnosis of Langerhans cell histiocytosis. No chemotherapy was necessary. Clinical and radiological improvement was achieved after 6 months.
CONCLUSION: The particularity of this observation is the bilaterality of the lesion on both forearms and it has not previously been reported. Langerhans cell histiocytosis should be included in the differential diagnosis of osteomyelitis and Ewing's sarcoma.
CASE REPRESENTATION: An 8-year-old Moroccan girl with no known personal or family history presented to our institution with painful swelling of both forearms. An X-ray and magnetic resonance imaging were inconclusive. We then performed a biopsy curettage (of her left forearm). Microscopic analysis followed by immunohistochemical analysis disclosed a diagnosis of Langerhans cell histiocytosis. No chemotherapy was necessary. Clinical and radiological improvement was achieved after 6 months.
CONCLUSION: The particularity of this observation is the bilaterality of the lesion on both forearms and it has not previously been reported. Langerhans cell histiocytosis should be included in the differential diagnosis of osteomyelitis and Ewing's sarcoma.
Yi W, Chen WY, Yang TX, et al.
Langerhans cell sarcoma arising from antecedent langerhans cell histiocytosis: A case report.
Medicine (Baltimore). 2019; 98(10):e14531 [PubMed] Free Access to Full Article Related Publications
Langerhans cell sarcoma arising from antecedent langerhans cell histiocytosis: A case report.
Medicine (Baltimore). 2019; 98(10):e14531 [PubMed] Free Access to Full Article Related Publications
RATIONALE: Langerhans cell sarcoma (LCS) is a rare, high-grade neoplasm characterized by overtly malignant cytologic features and a poor prognosis. Herein, we present a rare case of langerhans cell histiocytosis (LCH) that later transformed into langerhans cell sarcoma 11 months after the benign mass was excised from soft tissue in the right groin.
PATIENT CONCERNS: A 41-year-old patient who presented with a mass in the right groin for 3 years earlier after being bitten by ants.
DIAGNOSES: The patient was diagnosed with langerhans cell sarcoma arising from antecedent langerhans cell histiocytosis.
INTERVENTIONS: The patient underwent with 6 cycles of a modified etoposide, cyclophosphamide, vindesine, dexamethasone (E-CHOP) regimen.
OUTCOMES: The patient is currently receiving follow-up care.
LESSONS: LCH transformed into LCS is a rare case. E-CHOP as an effective first-line therapy to treat LCS cases, but, the mechanism is unclear. Due to their rarity, further data on clinical outcomes are necessary to establish the optimal treatment strategy for LCS.
PATIENT CONCERNS: A 41-year-old patient who presented with a mass in the right groin for 3 years earlier after being bitten by ants.
DIAGNOSES: The patient was diagnosed with langerhans cell sarcoma arising from antecedent langerhans cell histiocytosis.
INTERVENTIONS: The patient underwent with 6 cycles of a modified etoposide, cyclophosphamide, vindesine, dexamethasone (E-CHOP) regimen.
OUTCOMES: The patient is currently receiving follow-up care.
LESSONS: LCH transformed into LCS is a rare case. E-CHOP as an effective first-line therapy to treat LCS cases, but, the mechanism is unclear. Due to their rarity, further data on clinical outcomes are necessary to establish the optimal treatment strategy for LCS.
Thacker NH, Abla O
Pediatric Langerhans cell histiocytosis: state of the science and future directions.
Clin Adv Hematol Oncol. 2019; 17(2):122-131 [PubMed] Related Publications
Pediatric Langerhans cell histiocytosis: state of the science and future directions.
Clin Adv Hematol Oncol. 2019; 17(2):122-131 [PubMed] Related Publications
Langerhans cell histiocytosis (LCH) is an inflammatory neoplasm of myeloid origin characterized by the presence of classic CD1a+/CD207+ cells. An ongoing debate over the grouping of LCH was finally settled in favor of neoplasm after the discovery of the BRAF V600E mutation in 2010. The pathologic cells were found to involve an almost universal activation of the MAPK/ERK pathway, with mutations identified in most kinases upstream of ERK (RAS/RAF/MEK). The clinical presentation of LCH is a mixed bag, ranging from self-resolving localized disease to fulminant, fatal disseminated disease. The current standard of care for patients with multisystem LCH, who have high relapse rates, continues to be combination treatment with vinblastine and prednisone. Patients treated with BRAF and MEK inhibitors have shown a significant and sustained response in early-phase trials. During the current decade, researchers have described an extensive genomic landscape for LCH that has significantly enlarged our understanding of the biology and pathogenesis of this disease, especially neurodegenerative LCH. These advances have opened the door to studies of precision medicine and targeted therapy in LCH. Disease reactivation, long-term sequelae, very high-risk disease, and neurodegenerative LCH represent ongoing challenges. A renewed understanding of the biology of this disease, coupled with targeted therapies, may help in overcoming most of these challenges.
Nakamura N, Inaba Y, Aota Y, et al.
Characteristic Reconstitution of the Spinal Langerhans Cell Histiocytosis in Young Children.
J Pediatr Orthop. 2019; 39(4):e308-e311 [PubMed] Free Access to Full Article Related Publications
Characteristic Reconstitution of the Spinal Langerhans Cell Histiocytosis in Young Children.
J Pediatr Orthop. 2019; 39(4):e308-e311 [PubMed] Free Access to Full Article Related Publications
BACKGROUND: Pediatric Langerhans cell histiocytosis (LCH) often results in vertebral compression fracture. However, few reports have reported vertebral remodeling during the course of LCH. We aimed to investigate the longitudinal reconstitution and transformation of the affected vertebrae and the adjacent structures in young children with spinal LCH.
METHODS: We recruited 13 patients, including 16 affected vertebrae, diagnosed with LCH via biopsy. The average age at first visit was 3.6 years. The average follow-up period was 10.2 years. Vertebral lesions involved L2 in 3 cases; T12, L1, or L5 in 2 cases; and C4, C5, C7, T5, T8, T9, or L3 in 1 case. We measured the ratios of the height of the affected vertebra and 1 vertebra above the affected one to that of the second vertebra above the affected one, local kyphotic angles, and the ratio of the height of the center of the adjacent disk to that of one disk above it.
RESULTS: The collapse of the affected vertebra was most severe after 1 year of disease onset. The rate of reconstitution accelerated at 2 years or later of disease onset. The recovery speed of the anterior wall was faster than that of the center height. While the height of the affected vertebrae was restored, the thickness of the adjacent disk also increased. Further, the height of the adjacent vertebrae increased in a similar manner. The average local kyphosis angle shifted to lordosis within the first 3 years.
CONCLUSIONS: The heights of not only the disk but also the adjacent vertebra increased during the vertebral collapse phase in pediatric spinal LCH patients. These transformations may affect the realignment of the sagittal spinal balance at the earlier stage of the disease. During the collapse phase, the heights of the adjacent vertebrae and disks increase but after the affected vertebrae reconstituted, the augmentation of adjacent vertebrae and disks diminished.
LEVEL OF EVIDENCE: Level IV.
METHODS: We recruited 13 patients, including 16 affected vertebrae, diagnosed with LCH via biopsy. The average age at first visit was 3.6 years. The average follow-up period was 10.2 years. Vertebral lesions involved L2 in 3 cases; T12, L1, or L5 in 2 cases; and C4, C5, C7, T5, T8, T9, or L3 in 1 case. We measured the ratios of the height of the affected vertebra and 1 vertebra above the affected one to that of the second vertebra above the affected one, local kyphotic angles, and the ratio of the height of the center of the adjacent disk to that of one disk above it.
RESULTS: The collapse of the affected vertebra was most severe after 1 year of disease onset. The rate of reconstitution accelerated at 2 years or later of disease onset. The recovery speed of the anterior wall was faster than that of the center height. While the height of the affected vertebrae was restored, the thickness of the adjacent disk also increased. Further, the height of the adjacent vertebrae increased in a similar manner. The average local kyphosis angle shifted to lordosis within the first 3 years.
CONCLUSIONS: The heights of not only the disk but also the adjacent vertebra increased during the vertebral collapse phase in pediatric spinal LCH patients. These transformations may affect the realignment of the sagittal spinal balance at the earlier stage of the disease. During the collapse phase, the heights of the adjacent vertebrae and disks increase but after the affected vertebrae reconstituted, the augmentation of adjacent vertebrae and disks diminished.
LEVEL OF EVIDENCE: Level IV.
Shao D, Wang S
Diffuse Subcutaneous and Muscular Langerhans Cell Histiocytosis on FDG PET/CT.
Clin Nucl Med. 2019; 44(7):589-590 [PubMed] Related Publications
Diffuse Subcutaneous and Muscular Langerhans Cell Histiocytosis on FDG PET/CT.
Clin Nucl Med. 2019; 44(7):589-590 [PubMed] Related Publications
Langerhans cell histiocytosis (LCH) is a rare cancer that represents a set of pathological outcomes due to the abnormal proliferation of Langerhans cells, which is more commonly seen in pediatric patients. FDG PET/CT findings of an adult LCH patient with extensive infiltration in the subcutaneous tissue and muscles was described in this case.
Poompuen S, Chaiyarit J, Techasatian L
Diverse cutaneous manifestation of Langerhans cell histiocytosis: a 10-year retrospective cohort study.
Eur J Pediatr. 2019; 178(5):771-776 [PubMed] Related Publications
Diverse cutaneous manifestation of Langerhans cell histiocytosis: a 10-year retrospective cohort study.
Eur J Pediatr. 2019; 178(5):771-776 [PubMed] Related Publications
Cutaneous manifestation is a common presentation of LCH and is usually a leading clue for the disease diagnosis. Having cutaneous lesions did not show a significantly early age onset at diagnosis compared to those without skin lesions, P value = 0.71. In the present study, cutaneous findings were found as 77.7%. Seborrheic dermatitis-like lesions were the most common cutaneous type (42.8%), followed by papules/nodules/masses (28.5%), petechiae/hemorrhagic lesions (17.8%), and eczematous lesions (10.7%). Time to diagnosis of LCH presented with seborrheic dermatitis-like lesions was significantly longer than other cutaneous presentations, P value = 0.0011.Conclusion: Patients with LCH who had the manifestations of seborrheic dermatitis-like lesions can have diagnosis delayed due to the difficulty in distinguishing these lesions from normal seborrheic dermatitis lesions. Petechiae/hemorrhagic cutaneous signs in addition to the normal seborrheic dermatitis is the clue for early detection of the disease. To improve early detection of LCH, general pediatricians should be alerted to be aware of these skin symptoms, and if they persist, a dermatologist, pediatric if available, should be immediately consulted. What is Known? • Cutaneous manifestation is a common presentation of LCH and is usually a leading clue for the disease diagnosis. What is New? • Patients with LCH who have the manifestations of seborrheic dermatitis-like lesions can have a delayed diagnosis due to the difficulty in distinguishing normal from seborrheic dermatitis lesions. • Petechiae/hemorrhagic cutaneous signs in addition to the normal seborrheic dermatitis are the clue to the early disease detection.
Tamefusa K, Ishida H, Washio K, et al.
Remission of Congenital Multi-system Type Langerhans Cell Histiocytosis with Chemotherapy.
Acta Med Okayama. 2019; 73(1):61-65 [PubMed] Related Publications
Remission of Congenital Multi-system Type Langerhans Cell Histiocytosis with Chemotherapy.
Acta Med Okayama. 2019; 73(1):61-65 [PubMed] Related Publications
Patients with multi-system (MS)-type langerhans cell histiocytosis (LCH) show poor outcomes, especially congenital MS LCH cases were shown in high mortality rate. We experienced a congenital case of MS LCH with high risk organs, who needed intensive respiratory support after birth. Even though intensive chemotherapy was discontinued, this patient's lung LCH lesions gradually became reduced and his respiratory condition recovered; therefore, we restarted and completed maintenance chemotherapy. The patient maintained complete remission for more than 4 years after the end of chemotherapy. Our case suggests that congenital MS LCH even with severe organ involvement can be treated successfully with chemotherapy.
Kalra N, Tyagi R, Khatri A, et al.
Neonatal molar in a child with Langerhan cell histiocytosis.
J Indian Soc Pedod Prev Dent. 2019 Jan-Mar; 37(1):107-109 [PubMed] Related Publications
Neonatal molar in a child with Langerhan cell histiocytosis.
J Indian Soc Pedod Prev Dent. 2019 Jan-Mar; 37(1):107-109 [PubMed] Related Publications
Teeth which erupt in the 1
A Al Hamad M, Albisher HM, Al Saeed WR, et al.
BRAF gene mutations in synchronous papillary thyroid carcinoma and Langerhans cell histiocytosis co-existing in the thyroid gland: a case report and literature review.
BMC Cancer. 2019; 19(1):170 [PubMed] Free Access to Full Article Related Publications
BRAF gene mutations in synchronous papillary thyroid carcinoma and Langerhans cell histiocytosis co-existing in the thyroid gland: a case report and literature review.
BMC Cancer. 2019; 19(1):170 [PubMed] Free Access to Full Article Related Publications
BACKGROUND: Langerhans cell histiocytosis (LCH) is a rare clonal disease, characterized by hyperproliferation of Langerhans cells. It may rarely involve the thyroid gland. Its association with papillary thyroid carcinoma (PTC) is extremely rare; with only few case reports available in the English literature. BRAF mutations are implicated in the development of papillary thyroid carcinoma, and have also been identified in Langerhans cell histiocytosis.
CASE PRESENTATION: Here we present a rare case of a 36-year-old Indonesian female patient with dysphagia associated with neck mass which was complicated by skin sinus formation. The diagnosis of PTC was rendered on fine needle aspiration (FNA). Debulking thyroidectomy revealed co-existeence of PTC and LCH. On subsequent molecular testing, BRAF V600E and V600K mutations were detected in tissues macrodissected from both lesions, respectively. To the best of our knowledge, this case is the first case to report two different BRAF mutations in tissues of a Langerhans cell histiocytosis and a papillary thyroid carcinoma co-existing in the thyroid gland. The patient received chemotherapy of etoposide combined with prednisone. At the most recent follow-up, the patient is in a stable clinical condition.
CONCLUSIONS: The coexistence of a PTC with LCH harboring BRAF mutation may suggest etiologic relation between the two conditions that involves the BRAF gene. Clinically, it may suggest an aggressive, locally advanced thyroid cancer, an impression that may reflect on the selected surgical management, chemotherapy and BRAF mutation-targeting therapy to these patients.
CASE PRESENTATION: Here we present a rare case of a 36-year-old Indonesian female patient with dysphagia associated with neck mass which was complicated by skin sinus formation. The diagnosis of PTC was rendered on fine needle aspiration (FNA). Debulking thyroidectomy revealed co-existeence of PTC and LCH. On subsequent molecular testing, BRAF V600E and V600K mutations were detected in tissues macrodissected from both lesions, respectively. To the best of our knowledge, this case is the first case to report two different BRAF mutations in tissues of a Langerhans cell histiocytosis and a papillary thyroid carcinoma co-existing in the thyroid gland. The patient received chemotherapy of etoposide combined with prednisone. At the most recent follow-up, the patient is in a stable clinical condition.
CONCLUSIONS: The coexistence of a PTC with LCH harboring BRAF mutation may suggest etiologic relation between the two conditions that involves the BRAF gene. Clinically, it may suggest an aggressive, locally advanced thyroid cancer, an impression that may reflect on the selected surgical management, chemotherapy and BRAF mutation-targeting therapy to these patients.
Halder R, Anantharaman MB, Seth T, et al.
Pulmonary Langerhans Cell Histiocytosis: A not so Benign Lesion.
J Pediatr Hematol Oncol. 2019; 41(2):e122-e124 [PubMed] Related Publications
Pulmonary Langerhans Cell Histiocytosis: A not so Benign Lesion.
J Pediatr Hematol Oncol. 2019; 41(2):e122-e124 [PubMed] Related Publications
Langerhans cell histiocytosis is a multisystem disease affecting young children. Lung involvement has a myriad of manifestations and the outcomes for these patients have been poorly defined. We present a 2-year-old child who presented with multisystem disease with multiple lung cysts. Treatment consisted of multiagent chemotherapy for 18 months and was associated with a slow but favorable response.
Su M, Gao YJ, Pan C, et al.
Outcome of children with Langerhans cell histiocytosis and single-system involvement: A retrospective study at a single center in Shanghai, China.
Pediatr Hematol Oncol. 2018 Oct - Nov; 35(7-8):385-392 [PubMed] Related Publications
Outcome of children with Langerhans cell histiocytosis and single-system involvement: A retrospective study at a single center in Shanghai, China.
Pediatr Hematol Oncol. 2018 Oct - Nov; 35(7-8):385-392 [PubMed] Related Publications
BACKGROUND: This is a descriptive review of the clinical patterns and outcomes of children with Langerhans cell histiocytosis and single-system involvement (SS-LCH) treated at Shanghai Children's Medical Center.
PROCEDURE: 60 evaluable newly diagnosed patients (37 boys, 23 girls) with a median age of 3.9 years (range: 0.3-15.3 years) and histiopathology-confirmed SS-LCH were enrolled from 2010 to 2014. All patients received systemic chemotherapy using either the DAL HX-83 or LCH-II protocol as determined by the physician.
RESULTS: Bone was the most frequently affected organ (56/60, 93.3%). Of the 56 patients suffering from SS-bone disease, 35 (62.5%) had unifocal disease and 21 (37.5%) had multifocal disease. CNS-risk lesions were seen in nine patients (16.1%, 9/56) at diagnosis. Thirty-two patients were treated with the LCH-II protocol and 28 received the DAL HX-83 protocol. No patient received intralesional steroid injection at the time of surgery. CNS-risk lesion correlated with an inferior event-free survival (EFS) for patients with bone disease (62.5 ± 17.1% vs. 90.7 ± 4.5%; p = 0.039). The difference in the 5-year EFS between patients with unifocal and multifocal SS-bone LCH did not reach the statistical significance (93.8 ± 4.3% vs. 75.0 ± 9.7%; p = 0.074). No deaths were observed, leading to a 5-year OS of 100% in the present cohort of patients. Permanent consequences and secondary malignancies were not observed but were also limited by short follow-up.
CONCLUSIONS: Optimal therapy for patients with SS-bone LCH has not been established. Less toxic therapeutic approaches should be considered for these patients and tested in prospective trials.
PROCEDURE: 60 evaluable newly diagnosed patients (37 boys, 23 girls) with a median age of 3.9 years (range: 0.3-15.3 years) and histiopathology-confirmed SS-LCH were enrolled from 2010 to 2014. All patients received systemic chemotherapy using either the DAL HX-83 or LCH-II protocol as determined by the physician.
RESULTS: Bone was the most frequently affected organ (56/60, 93.3%). Of the 56 patients suffering from SS-bone disease, 35 (62.5%) had unifocal disease and 21 (37.5%) had multifocal disease. CNS-risk lesions were seen in nine patients (16.1%, 9/56) at diagnosis. Thirty-two patients were treated with the LCH-II protocol and 28 received the DAL HX-83 protocol. No patient received intralesional steroid injection at the time of surgery. CNS-risk lesion correlated with an inferior event-free survival (EFS) for patients with bone disease (62.5 ± 17.1% vs. 90.7 ± 4.5%; p = 0.039). The difference in the 5-year EFS between patients with unifocal and multifocal SS-bone LCH did not reach the statistical significance (93.8 ± 4.3% vs. 75.0 ± 9.7%; p = 0.074). No deaths were observed, leading to a 5-year OS of 100% in the present cohort of patients. Permanent consequences and secondary malignancies were not observed but were also limited by short follow-up.
CONCLUSIONS: Optimal therapy for patients with SS-bone LCH has not been established. Less toxic therapeutic approaches should be considered for these patients and tested in prospective trials.
Tan H, Yu K, Yu Y, et al.
Isolated hypothalamic-pituitary langerhans' cell histiocytosis in female adult: A case report.
Medicine (Baltimore). 2019; 98(2):e13853 [PubMed] Free Access to Full Article Related Publications
Isolated hypothalamic-pituitary langerhans' cell histiocytosis in female adult: A case report.
Medicine (Baltimore). 2019; 98(2):e13853 [PubMed] Free Access to Full Article Related Publications
RATIONALE: Langerhans cell histiocytosis (LCH) is characterized by clonal proliferation of immature dendritic cells, mainly affects children. LCH in adult sellar region is extremely rare. In literature, optimal treatments remain unclear and only a few cases of LCH were treated using surgery. Here, we present a rare case of isolated hypothalamic-pituitary LHC in female adult. We focused on elucidating the clinical manifestations and immunohistochemical features of LCH, and exploring the proper treatment in adults.
PATIENT CONCERNS: A 50-year-old woman was admitted to our hospital, presenting with polydipsia and polyuria for over 3 months.
DIAGNOSES: Radiological studies revealed lesions (0.5 × 0.9 × 0.4 cm) on posterior pituitary and enlarged pituitary stalk, which was moderately enhanced on contrast magnetic resonance imaging (MRI) of sellar region. In biopsy, pathological examination of Langerhans cells were observed with positive S-100 protein and Ki-67 antigen markers, findings were sufficient to establish a diagnosis of central nervous system (CNS) LCH.
INTERVENTIONS: The patient with LCH restricted in the sellar region received both surgery and chemotherapy. Gamma knife radiosurgery was performed after diagnosed as central diabetes insipidus (CDI) induced by pituitary lesion. And tumorectomy was performed 5 years later. However, in the latest MRI in 2017, the nodular shadow became larger (about 1.4 cm), chemotherapy and further systemic therapy were given.
OUTCOMES: At 12-month follow-up, no local reoccurrence was noticed.
LESSONS: For LCH, though difficult to be diagnosed and none defined standard therapeutic approach to adults, surgery should be considered if there are neurological symptoms or histological diagnosis. The present study showed that some manifestations can be meaningful when central nervous system (CNS) is involved. For complex diseases in the sellar region, multi-disciplinary team (MDT) model of diagnosis and treatment should be helpful for better clinical efficacy.
PATIENT CONCERNS: A 50-year-old woman was admitted to our hospital, presenting with polydipsia and polyuria for over 3 months.
DIAGNOSES: Radiological studies revealed lesions (0.5 × 0.9 × 0.4 cm) on posterior pituitary and enlarged pituitary stalk, which was moderately enhanced on contrast magnetic resonance imaging (MRI) of sellar region. In biopsy, pathological examination of Langerhans cells were observed with positive S-100 protein and Ki-67 antigen markers, findings were sufficient to establish a diagnosis of central nervous system (CNS) LCH.
INTERVENTIONS: The patient with LCH restricted in the sellar region received both surgery and chemotherapy. Gamma knife radiosurgery was performed after diagnosed as central diabetes insipidus (CDI) induced by pituitary lesion. And tumorectomy was performed 5 years later. However, in the latest MRI in 2017, the nodular shadow became larger (about 1.4 cm), chemotherapy and further systemic therapy were given.
OUTCOMES: At 12-month follow-up, no local reoccurrence was noticed.
LESSONS: For LCH, though difficult to be diagnosed and none defined standard therapeutic approach to adults, surgery should be considered if there are neurological symptoms or histological diagnosis. The present study showed that some manifestations can be meaningful when central nervous system (CNS) is involved. For complex diseases in the sellar region, multi-disciplinary team (MDT) model of diagnosis and treatment should be helpful for better clinical efficacy.
Garg D, Pedapati R, Nakra T, et al.
Langerhans cell histiocytosis presenting as a rapidly evolving frontotemporal syndrome.
Neurol Sci. 2019; 40(5):1055-1058 [PubMed] Related Publications
Langerhans cell histiocytosis presenting as a rapidly evolving frontotemporal syndrome.
Neurol Sci. 2019; 40(5):1055-1058 [PubMed] Related Publications
Langerhans cell histiocytosis (LCH) is a rare disorder in adults which usually manifests with involvement of multiple organ systems, including the central nervous system. We describe an unusual case of biopsy-proven LCH presenting with frontotemporal-dominant cognitive impairment with hypothalamic involvement, along with multisystem disease. We propose that the dementia was probably an immune-mediated process triggered by LCH which responded dramatically to high-dose steroids.
Eckstein O, McAtee CL, Greenberg J, et al.
Rituximab therapy for patients with Langerhans cell histiocytosis-associated neurologic dysfunction.
Pediatr Hematol Oncol. 2018 Oct - Nov; 35(7-8):427-433 [PubMed] Related Publications
Rituximab therapy for patients with Langerhans cell histiocytosis-associated neurologic dysfunction.
Pediatr Hematol Oncol. 2018 Oct - Nov; 35(7-8):427-433 [PubMed] Related Publications
OBJECTIVE: Since patients with langerhans cell histiocytosis and neurologic dysfunction (LCH-ND) often have incomplete treatment responses we sought a new treatment regimen. Because of clinical benefit from rituximab in multiple sclerosis patients with neurodegeneration, we evaluated its use in patients with LCH-ND.
PARTICIPANTS: Eight LCH-ND patients who had failed prior therapies.
METHODS: Charts of the 8 patients treated with rituximab were reviewed. Signs/symptoms and MRI responses were assessed.
RESULTS: Seven of eight patients experienced some clinical improvement: gait abnormalities and tremors in four children, proprioceptive deficits in 2, and dysarthria/dysphagia in 2. Five of eight patients demonstrated improvement in intellectual/behavioral/psychological symptoms.
CONCLUSION: These findings suggest that prospective studies are warranted to define safety and efficacy of rituximab for patients with LCH-ND.
PARTICIPANTS: Eight LCH-ND patients who had failed prior therapies.
METHODS: Charts of the 8 patients treated with rituximab were reviewed. Signs/symptoms and MRI responses were assessed.
RESULTS: Seven of eight patients experienced some clinical improvement: gait abnormalities and tremors in four children, proprioceptive deficits in 2, and dysarthria/dysphagia in 2. Five of eight patients demonstrated improvement in intellectual/behavioral/psychological symptoms.
CONCLUSION: These findings suggest that prospective studies are warranted to define safety and efficacy of rituximab for patients with LCH-ND.
Related: Rituximab (Mabthera)
Rituximab (Mabthera)
Ishikawa M, Endo Y, Uehara A, et al.
Cutaneous adult xanthogranuloma with a small portion of BRAF
J Dermatol. 2019; 46(2):161-165 [PubMed] Related Publications
Cutaneous adult xanthogranuloma with a small portion of BRAF
J Dermatol. 2019; 46(2):161-165 [PubMed] Related Publications
Histiocytoses, including Langerhans cell histiocytosis (LCH), juvenile or adult xanthogranuloma (AXG) and Rosai-Dorfman disease (RDD), are rare disorders characterized by the proliferation of cells derived from monocyte/macrophage lineages. A few cases of LCH coexisting with xanthogranuloma or RDD have been reported. The etiology of these diseases remains unclear. However, oncogenic BRAF
Related: BRAF
BRAF
Moteki Y, Yamada M, Shimizu A, et al.
Langerhans Cell Histiocytosis of the Skull in a Burr Hole Site Covered with Hydroxyapatite Material.
World Neurosurg. 2019; 122:632-637 [PubMed] Related Publications
Langerhans Cell Histiocytosis of the Skull in a Burr Hole Site Covered with Hydroxyapatite Material.
World Neurosurg. 2019; 122:632-637 [PubMed] Related Publications
BACKGROUND: Langerhans cell histiocytosis (LCH) is a rare dendritic histiocytic disorder that affects the bones, especially the skull. Langerhans cell histiocytosis (LCH) developing in a burr hole site for chronic subdural hematoma is extremely rare.
CASE DESCRIPTION: A 53-year-old man underwent a burr hole irrigation for chronic subdural hematoma, and the burr hole was covered with a burr hole button made of hydroxyapatite. Seven months after the first surgery, the connective tissue rapidly proliferated around the burr hole button, and the pathologic diagnosis was LCH. LCH recurred at 13 and 19 months after the first operation, with curettage performed each time. At 3 months after the final operation, no recurrence was identified on magnetic resonance imaging.
CONCLUSIONS: If there is rapid proliferation of connective tissue at an operative site where artificial material has been used, LCH should be considered.
CASE DESCRIPTION: A 53-year-old man underwent a burr hole irrigation for chronic subdural hematoma, and the burr hole was covered with a burr hole button made of hydroxyapatite. Seven months after the first surgery, the connective tissue rapidly proliferated around the burr hole button, and the pathologic diagnosis was LCH. LCH recurred at 13 and 19 months after the first operation, with curettage performed each time. At 3 months after the final operation, no recurrence was identified on magnetic resonance imaging.
CONCLUSIONS: If there is rapid proliferation of connective tissue at an operative site where artificial material has been used, LCH should be considered.
Kim SS, Hong SA, Shin HC, et al.
Adult Langerhans' cell histiocytosis with multisystem involvement: A case report.
Medicine (Baltimore). 2018; 97(48):e13366 [PubMed] Free Access to Full Article Related Publications
Adult Langerhans' cell histiocytosis with multisystem involvement: A case report.
Medicine (Baltimore). 2018; 97(48):e13366 [PubMed] Free Access to Full Article Related Publications
RATIONALE: Langerhans' cell histiocytosis (LCH), also called histiocytosis X, is an uncommon disorder manifesting in a variety of ways. Although LCH can involve various organs including bone, skin, and lymph nodes, multisystem involvement of LCH is rare in adults.
PATIENT CONCERNS: A 31-year-old woman first presented to our hospital with left leg pain. She had a history of a 20-kg weight gain over three months.
DIAGNOSES: X-ray, magnetic resonance imaging (MRI), computed tomography (CT), and bone scan images revealed enhancing lesions in the left femur and right temporal bone, multiple cystic lesions in the lung, enhancing mass in the pituitary stalk, and fat density lesions in the liver. The patient underwent excisional biopsy for the femoral lesion and histologic examination confirmed the diagnosis of LCH.
INTERVENTIONS: Excisional biopsy was performed for the bony lesion in the left femur. She received chemotherapy with vinblastine and prednisolone.
OUTCOMES: The patient expired after 21 months from initial admission following recurrent episodes of pneumothorax, pneumonia, and sepsis.
LESSONS: Our case showed LCH involvement in bone, lung, central nervous system (CNS), and liver. Although it is occasionally difficult to discriminate LCH from other disorders, systemic evaluation might be helpful for differential diagnosis. Familiarity with the various multisystemic involvements of LCH on imaging is vital for diagnosing and managing patients in daily practice.
PATIENT CONCERNS: A 31-year-old woman first presented to our hospital with left leg pain. She had a history of a 20-kg weight gain over three months.
DIAGNOSES: X-ray, magnetic resonance imaging (MRI), computed tomography (CT), and bone scan images revealed enhancing lesions in the left femur and right temporal bone, multiple cystic lesions in the lung, enhancing mass in the pituitary stalk, and fat density lesions in the liver. The patient underwent excisional biopsy for the femoral lesion and histologic examination confirmed the diagnosis of LCH.
INTERVENTIONS: Excisional biopsy was performed for the bony lesion in the left femur. She received chemotherapy with vinblastine and prednisolone.
OUTCOMES: The patient expired after 21 months from initial admission following recurrent episodes of pneumothorax, pneumonia, and sepsis.
LESSONS: Our case showed LCH involvement in bone, lung, central nervous system (CNS), and liver. Although it is occasionally difficult to discriminate LCH from other disorders, systemic evaluation might be helpful for differential diagnosis. Familiarity with the various multisystemic involvements of LCH on imaging is vital for diagnosing and managing patients in daily practice.
Acat M, Tanrıverdi E, Uğur Chousein EG, et al.
General features of patients with Pulmonary Langerhans Cell Histiocytosis followed in our instution.
Tuberk Toraks. 2018; 66(3):205-211 [PubMed] Related Publications
General features of patients with Pulmonary Langerhans Cell Histiocytosis followed in our instution.
Tuberk Toraks. 2018; 66(3):205-211 [PubMed] Related Publications
Introduction: Pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare disease affecting young smokers. It is more common between the ages of 20-40 and equals the male/female ratio. Lung biopsy is the most useful methods for diagnosis. The first treatment is to quit smoking. Corticosteroids or chemotherapeutic agents can be used in severe progressive cases despite of quiting smoking. The patients with PLCH followed in our clinic were assessed with general clinical features in the light of the literature.
Materials and Methods: We retrospectively evaluated patients with PLCH in our clinic between January 1999 and June 2017.
Result: The female and male distribution of the 21 patients was 11/10. The average age was 35.04 ± 11.78 years. All patients were active smokers at the time of admission. The most common symptom was dyspnea. The most common finding in the pulmonary function tests was obstructive ventilatory defect. The DLCO value of the 70% patient in the carbonmonooxid diffusion test was below 80%. The most common pathologic findings detected in high-resolution chest tomography (HRCT) were cystic lesions involving bilateral upper and middle areas. There were 3 (14%) patients with pneumothorax at the time of admission and 6 (28.5%) patients with pneumothorax history before. The most common diagnostic method was open lung biopsy. All the patients quit cigarette after the diagnosis. There were 6 patients using steroid therapy, 1 patient receiving steroid and bosentan therapy, and 1 patient made pleurectomy due to recurrent pneumothorax. Lung transplantation was done to patient who received combined bosentan treatment with steroids.
Conclusions: PLCH is a rare disease and should be considered in young, smokers with spontaneous pneumothorax and cystic lung disease in the differential diagnosis. As more diffusions are affected in patients, respiratory functions for follow-up should be evaluated with diffusion tests. It is essential to quit smoking in therapy.
Materials and Methods: We retrospectively evaluated patients with PLCH in our clinic between January 1999 and June 2017.
Result: The female and male distribution of the 21 patients was 11/10. The average age was 35.04 ± 11.78 years. All patients were active smokers at the time of admission. The most common symptom was dyspnea. The most common finding in the pulmonary function tests was obstructive ventilatory defect. The DLCO value of the 70% patient in the carbonmonooxid diffusion test was below 80%. The most common pathologic findings detected in high-resolution chest tomography (HRCT) were cystic lesions involving bilateral upper and middle areas. There were 3 (14%) patients with pneumothorax at the time of admission and 6 (28.5%) patients with pneumothorax history before. The most common diagnostic method was open lung biopsy. All the patients quit cigarette after the diagnosis. There were 6 patients using steroid therapy, 1 patient receiving steroid and bosentan therapy, and 1 patient made pleurectomy due to recurrent pneumothorax. Lung transplantation was done to patient who received combined bosentan treatment with steroids.
Conclusions: PLCH is a rare disease and should be considered in young, smokers with spontaneous pneumothorax and cystic lung disease in the differential diagnosis. As more diffusions are affected in patients, respiratory functions for follow-up should be evaluated with diffusion tests. It is essential to quit smoking in therapy.
Flores Legarreta A, Eckstein O, Burke TM, McClain KL
Anti TNF-α therapy in patients with relapsed and refractory Langerhans cell histiocytosis: a phase II study.
Pediatr Hematol Oncol. 2018 Aug - Sep; 35(5-6):362-368 [PubMed] Related Publications
Anti TNF-α therapy in patients with relapsed and refractory Langerhans cell histiocytosis: a phase II study.
Pediatr Hematol Oncol. 2018 Aug - Sep; 35(5-6):362-368 [PubMed] Related Publications
Tumor necrosis factor alpha (TNF-α) is produced in Langerhans cell histiocytosis (LCH) lesions and is elevated in plasma of patients with active LCH. It has been postulated that TNF-α may play a role in the pathophysiology of LCH. Etanercept, an anti-TNF-α antibody, has been used in TNF-modulated diseases such as rheumatoid arthritis (RA). We conducted a phase II study to determine the efficacy of etanercept for patients with refractory or relapsed LCH. Five LCH patients who had failed at least 2 prior treatments (range 2-9) received etanercept at a dose of 0.4 mg/kg twice weekly for up to a total of 24 doses. Disease response was assessed at 4 and 8 weeks. None of the five patients had improvement in their disease with etanercept treatment. Three progressed at week 4 and 1 progressed at week 8. One subject died after 3 weeks of treatment from disease progression. During the study, only one drug-related toxicity was noted which spontaneously resolved. The study was concluded early due to lack of response to etanercept and insufficient accrual rate. This data suggests that etanercept as given in this study may not be effective for relapsed or refractory LCH. However, the number of patients treated was not adequate enough to power this study and it is possible that a different dose and regimen of etanercept may be required to successfully treat this disease.
Related: TNF
TNF
Héritier S, Barkaoui MA, Miron J, et al.
Incidence and risk factors for clinical neurodegenerative Langerhans cell histiocytosis: a longitudinal cohort study.
Br J Haematol. 2018; 183(4):608-617 [PubMed] Related Publications
Incidence and risk factors for clinical neurodegenerative Langerhans cell histiocytosis: a longitudinal cohort study.
Br J Haematol. 2018; 183(4):608-617 [PubMed] Related Publications
Neurodegenerative (ND) complications in Langerhans cell histiocytosis (LCH) are a late-onset but dramatic sequelae for which incidence and risk factors are not well defined. Based on a national prospective registry of paediatric LCH patients, we determined the incidence rate of clinical ND LCH (cND-LCH) and analysed risk factors, taking into account disease extent and molecular characteristics. Among 1897 LCH patients, 36 (1·9%) were diagnosed with a cND-LCH. The 10-year cumulative incidence of cND-LCH was 4·1%. cND-LCH typically affected patients previously treated for a multisystem, risk organ-negative LCH, represented in 69·4% of cND-LCH cases. Pituitary gland, skin and base skull/orbit bone lesions were more frequent (P < 0·001) in cND-LCH patients compared to those without cND-LCH (respectively 86·1% vs. 12·2%, 75·0% vs. 34·2%, and 63·9% vs. 28·4%). The 'cND susceptible patients' (n = 671) i.e., children who had experienced LCH disease with pituitary or skull base or orbit bone involvement, had a 10-year cND risk of 7·8% vs. 0% for patients who did not meet these criteria. Finally, BRAF
Guo X, Li Q, Gao J
Langerhans cell histiocytosis complicated with hemophagocytic lymphohistiocytosis in a boy with a novel XIAP mutation: A case report.
Medicine (Baltimore). 2018; 97(44):e13019 [PubMed] Free Access to Full Article Related Publications
Langerhans cell histiocytosis complicated with hemophagocytic lymphohistiocytosis in a boy with a novel XIAP mutation: A case report.
Medicine (Baltimore). 2018; 97(44):e13019 [PubMed] Free Access to Full Article Related Publications
RATIONALE: X-linked lymphoproliferative syndromes (XLPs) are rare, yet often fatal primary immunodeficiency diseases, which rarely manifest as Langerhans cell histiocytosis (LCH) complicated with hemophagocytic lymphohistiocytosis (HLH). Clinical data of a case of XLP-2 manifesting as LCH complicated with HLH was retrospectively analyzed to determine the etiology and causal gene.
PATIENT CONCERNS AND DIAGNOSIS: The diagnosis of multisystem LCH was confirmed by skin biopsy and other examinations in a 13-month boy with recurrent ear discharge, fever and hemorrhagic papules for 3 months. A good therapeutic response to LCH-III protocol-directed induction chemotherapy was achieved but unremitting HLH developed 6 weeks after the initiation of induction chemotherapy. To identify possible underlying genetic causes, gene mutation analysis was undertaken. A novel XIAP gene mutation (c.99delT, p.F33fsX37) was documented.
INTERVENTIONS: After the diagnosis of HLH had been confirmed, HLH-2004-directed chemotherapy was instituted.
OUTCOMES: The clinical condition of the patient had become progressively deteriorating after 8-week chemotherapy of HLH-2004 protocol, requiring frequent infusions of RBC suspensions and apheresis platelets. His parents decided to receive no further therapy, and the patient died soon after discharge.
LESSONS: Meticulous laboratory investigations including genetic studies should be undertaken in young children with LCH complicated with HLH and poor therapeutic response.
PATIENT CONCERNS AND DIAGNOSIS: The diagnosis of multisystem LCH was confirmed by skin biopsy and other examinations in a 13-month boy with recurrent ear discharge, fever and hemorrhagic papules for 3 months. A good therapeutic response to LCH-III protocol-directed induction chemotherapy was achieved but unremitting HLH developed 6 weeks after the initiation of induction chemotherapy. To identify possible underlying genetic causes, gene mutation analysis was undertaken. A novel XIAP gene mutation (c.99delT, p.F33fsX37) was documented.
INTERVENTIONS: After the diagnosis of HLH had been confirmed, HLH-2004-directed chemotherapy was instituted.
OUTCOMES: The clinical condition of the patient had become progressively deteriorating after 8-week chemotherapy of HLH-2004 protocol, requiring frequent infusions of RBC suspensions and apheresis platelets. His parents decided to receive no further therapy, and the patient died soon after discharge.
LESSONS: Meticulous laboratory investigations including genetic studies should be undertaken in young children with LCH complicated with HLH and poor therapeutic response.
Ahuja A, Uppe A, Nair G
Multisystem Involvement of Langerhans Cell Histiocytosis.
J Assoc Physicians India. 2018; 66(4):75-6 [PubMed] Related Publications
Multisystem Involvement of Langerhans Cell Histiocytosis.
J Assoc Physicians India. 2018; 66(4):75-6 [PubMed] Related Publications
Langerhans cell histiocytosis presents with involvement of skin, bone and lungs. We discuss this case of breast LCH who developed pulmonary cystic lesions leading to bilateral pneumothoraces. PET scan showed involvement of thyroid and marrow involvement. A new nodule developed at ICD site after 9 months and was diagnosed as LCH nodule. This could be because of seeding of LCH cells at ICD site. We review LCH with involvement of multiple systems.
Halperson E, Weintraub M
Oral Langerhans Cell Histiocytosis in an Infant.
J Dent Child (Chic). 2018; 85(2):75-78 [PubMed] Related Publications
Oral Langerhans Cell Histiocytosis in an Infant.
J Dent Child (Chic). 2018; 85(2):75-78 [PubMed] Related Publications
Langerhans cell histiocytosis (LCH) is a rare disease characterized by abnormal proliferation of bone marrow-derived histiocytes (Langerhans cells). LCH may manifest orally with single or multiple lesions of the alveolar or basal bone. Ulcerated mucosal lesions may be accompanied by periodontal lesions that present with gingival inflammation, bleeding, recession, necrosis, toothache, dental hypermobility, tooth development abnormalities, and premature tooth loss. This paper presents the case of a five-month-old boy with very early oral manifestations of LCH and describes the combined systemic and dental treatment during a 36-month follow-up. A combined local and systemic approach may be necessary to control oral disease manifestations.
Kobayashi M, Tojo A
Langerhans cell histiocytosis in adults: Advances in pathophysiology and treatment.
Cancer Sci. 2018; 109(12):3707-3713 [PubMed] Free Access to Full Article Related Publications
Langerhans cell histiocytosis in adults: Advances in pathophysiology and treatment.
Cancer Sci. 2018; 109(12):3707-3713 [PubMed] Free Access to Full Article Related Publications
Langerhans cell histiocytosis (LCH) is a rare systemic disorder characterized by the accumulation of CD1a+/Langerin+ LCH cells and wide-ranging organ involvement. Langerhans cell histiocytosis was formerly referred to as histiocytosis X, until it was renamed in 1987. Langerhans cell histiocytosis β was named for its morphological similarity to skin Langerhans cells. Studies have shown that LCH cells originate from myeloid dendritic cells rather than skin Langerhans cells. There has been significant debate regarding whether LCH should be defined as an immune disorder or a neoplasm. A breakthrough in understanding the pathogenesis of LCH occurred in 2010 when a gain-of-function mutation in BRAF (V600E) was identified in more than half of LCH patient samples. Studies have since reported that 100% of LCH cases show ERK phosphorylation, indicating that LCH is likely to be a clonally expanding myeloid neoplasm. Langerhans cell histiocytosis is now defined as an inflammatory myeloid neoplasm in the revised 2016 Histiocyte Society classification. Randomized trials and novel approaches have led to improved outcomes for pediatric patients, but no well-defined treatments for adult patients have been developed to date. Although LCH is not fatal in all cases, delayed diagnosis or treatment can result in serious impairment of organ function and decreased quality of life. This study summarizes recent advances in the pathophysiology and treatment of adult LCH, to raise awareness of this "orphan disease".
Related: BRAF Signal Transduction
BRAF Signal Transduction
Bärtschi P, Luna E, González-López P, et al.
A Very Rare Case of Right Insular Lobe Langerhans Cell Histiocytosis (CD1a
World Neurosurg. 2019; 121:4-11 [PubMed] Related Publications
A Very Rare Case of Right Insular Lobe Langerhans Cell Histiocytosis (CD1a
World Neurosurg. 2019; 121:4-11 [PubMed] Related Publications
BACKGROUND: Langerhans cell histiocytosis (LCH) is a multisystemic dendritic cell proliferation that is relatively uncommon in adults. Central nervous system LCH outside the pituitary gland is even more uncommon.
CASE DESCRIPTION: We report the case of a 42-year-old man who had complained of right-side hemicranial pain and left arm minor paresis. The symptoms were due to a right insular lobe heterogeneous-enhancing lesion associated with extensive vasogenic edema. The first diagnostic impression suggested glioblastoma multiforme or localized metastasis. The thoracic, abdominal, pelvic computed tomography scan only detected small upper lung inactive nodules suggesting silent focal LCH. A very hard lesion was almost completely removed through a pterional craniotomy approach, with no fluorescence after aminolevulinic acid infusion. The intraoperative biopsy findings ruled out glioma but could not confirm lymphoma. The definitive cerebral biopsy findings showed lymphocytes and histiocytes (CD1a
CONCLUSIONS: The present case is so rare it should not be used as a guide. We probably will never see a single intraparenchymal supratentorial central nervous system LCH lesion. However, we hope our report will help colleagues in the future with the thought process.
CASE DESCRIPTION: We report the case of a 42-year-old man who had complained of right-side hemicranial pain and left arm minor paresis. The symptoms were due to a right insular lobe heterogeneous-enhancing lesion associated with extensive vasogenic edema. The first diagnostic impression suggested glioblastoma multiforme or localized metastasis. The thoracic, abdominal, pelvic computed tomography scan only detected small upper lung inactive nodules suggesting silent focal LCH. A very hard lesion was almost completely removed through a pterional craniotomy approach, with no fluorescence after aminolevulinic acid infusion. The intraoperative biopsy findings ruled out glioma but could not confirm lymphoma. The definitive cerebral biopsy findings showed lymphocytes and histiocytes (CD1a
CONCLUSIONS: The present case is so rare it should not be used as a guide. We probably will never see a single intraparenchymal supratentorial central nervous system LCH lesion. However, we hope our report will help colleagues in the future with the thought process.
Related: Lung Cancer
Lung Cancer
