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See also: Molecular Biology of Rhabdomyosarcoma

Latest Research Publications

This list of publications is regularly updated (Source: PubMed).

Arora A, Jaiswal R, Anand N, Husain N
Primary embryonal rhabdomyosarcoma of the liver.
BMJ Case Rep. 2016; 2016 [PubMed] Related Publications
Rhabdomyosarcomas are malignant neoplasms with striated muscle differentiation. This is the most common type of soft-tissue sarcoma in children, but occurs rarely in adults. Its occurrence in liver is infrequent. We report a case of primary hepatic embryonal rhabdomyosarcoma in a 67-year-old man. The tumour was occupying the left lobe of the liver with large component of lesion seen bulging in left subhepatic space indenting over the stomach, compressing the pancreas and gall bladder. A percutaneous biopsy was performed which revealed embryonal rhabdomyosarcoma. He underwent a successful left lobectomy with complete resection of the tumour, followed by adjuvant chemotherapy. The patient is free of disease at 24 months of follow-up. Hence, an early diagnosis, prompt surgical resection with negative resection margin along with adjuvant chemotherapy can provide complete remission. This case is extremely rare both due to the age of the patient at presentation and location of the tumour.

Related: Liver Cancer

Yu W, Honisch S, Schmidt S, et al.
Chorein Sensitive Orai1 Expression and Store Operated Ca2+ Entry in Rhabdomyosarcoma Cells.
Cell Physiol Biochem. 2016; 40(5):1141-1152 [PubMed] Related Publications
BACKGROUND: Chorein, a protein encoded by VPS13A (vacuolar protein sorting-associated protein 13A), is defective in chorea acanthocytosis, a rare disease characterized by acanthocytosis of red blood cells and neuronal cell death with progressive hyperkinetic movement disorder, cognitive dysfunction, behavioral abnormalities and chronic hyperkalemia. Chorein is highly expressed in ZF rhabdomyosarcoma cells and counteracts apoptosis of those cells. Chorein is effective in part by interacting with and fostering stimulation of phosphoinositide-3-kinase (PI3K)-p85-subunit. PI3K dependent signaling includes the serum and glucocorticoid inducible kinase SGK1. The kinase activates NFκB with subsequent up-regulation of the Ca2+ channel subunit Orai1, which accomplishes store operated Ca2+ entry (SOCE). Orai1 and SOCE have been shown to confer survival of tumor cells. The present study thus explored whether chorein impacts on Orai1 expression and SOCE.
METHODS: In rhabdomyosarcoma cells chorein, Orai1, NFκB and SGK1 transcript levels were quantified by RT-PCR, Orai1 protein abundance by Western blotting, FACS analysis and confocal laser microscopy, [Ca2+]i utilizing Fura-2 fluorescence, and SOCE from the increase of [Ca2+]i following store depletion with extracellular Ca2+ removal and inhibition of the sarcoendoplasmatic reticular Ca2+ ATPase with thapsigargin.
RESULTS: The mRNA coding for chorein was most abundant in drug resistant, poorly differentiated human ZF rhabdomyosarcoma cells. Chorein silencing significantly decreased Orai1 transcript levels and Orai1 protein expression, as well as SGK1 and NFκB transcript levels. SOCE in ZF rhabdomyosarcoma cells was significantly blunted by chorein silencing, Orai1 inhibitor 2-APB (50 µM), SGK1 inhibitor EMD638683 (50 µM, 10 h) and NFκB inhibitor wogonin (50 µM, 24 h).
CONCLUSION: Chorein is a stimulator of Orai1 expression and thus of store operated Ca2+ entry. The effect may involve SGK1 and NFκB.

Hammond WJ, Farber BA, Price AP, et al.
Paratesticular rhabdomyosarcoma: Importance of initial therapy.
J Pediatr Surg. 2017; 52(2):304-308 [PubMed] Article available free on PMC after 01/02/2018 Related Publications
PURPOSE: To evaluate factors associated with progression-free and disease-specific survival in patients with paratesticular rhabdomyosarcoma, we performed a cohort study. Also, since many patients present to our institution after initial therapy, we analyzed the effects of salvage therapy for scrotal violation.
PATIENTS AND METHODS: We retrospectively reviewed the records of all consecutive patients with histologically confirmed paratesticular rhabdomyosarcoma treated at our institution between 1978 and 2015. Fifty-one patients were initially identified, but two with incomplete data were excluded from analysis. Variables evaluated for correlation with survival were TNM staging, Children's Oncology Group Soft Tissue Sarcoma pretreatment staging, margins at initial resection, presence of scrotal violation, hemiscrotectomy and/or scrotal radiation. The log-rank test was used to compare survival distributions.
RESULTS: For the analytic cohort of 49 patients, the median age and follow-up were 15.7years (95% CI: 14.2-17.5, range: 0.8-25.1years) and 6.9years (95% CI: 4.4-9.0, range 0.2-37.5years), respectively. The 5-year overall disease-specific survival was 78.7% (95% CI: 67.7%-91.4%) and the progression-free survival was 66.9% (95% CI: 54.8%-81.6%). Median time to recurrence was 0.9years (95% CI: 0.7-0.9, range 0.1-6.2years). Scrotal violation occurred in 41% (n=20) and tripled the risk of recurrence for patients not appropriately treated with either hemiscrotectomy or scrotal radiation therapy (RR=3.0, 95% CI: 1.16-7.73).
CONCLUSIONS: The strongest predictors of disease-specific survival were nodal status and distant metastasis at diagnosis. Scrotal violation remains a problem in paratesticular rhabdomyosarcoma and is a predictor of disease progression unless adequately treated. The risk of progression could be reduced with appropriate initial resection.
LEVEL OF EVIDENCE: Level IV; retrospective study with no comparison group.

Related: Testicular Cancer

Lindholm EB, Alkattan AK, Abramson SJ, et al.
Pancreaticoduodenectomy for pediatric and adolescent pancreatic malignancy: A single-center retrospective analysis.
J Pediatr Surg. 2017; 52(2):299-303 [PubMed] Article available free on PMC after 01/02/2018 Related Publications
PURPOSE: While pancreaticoduodenectomy (PD) has been extensively studied in adults, there are few data pertaining specifically to pediatric patients. We retrospectively analyzed PD-associated morbidity and mortality in pediatric patients.
METHODS: Our analytic cohort included all consecutive patients ≤18years of age treated at our institution from 1993 to 2015 who underwent PD. Patient data (demographics, disease characteristics, surgical and adjuvant treatment, length of hospital stay, and postoperative course) were extracted from the medical records.
RESULTS: We identified 12 children with a median age of 9years (7 female, 5 male). Final diagnoses were pancreatoblastoma (n=3), solid pseudopapillary tumor (n=3), neuroblastoma (n=2), rhabdomyosarcoma (n=2), and neuroendocrine carcinoma (n=2). Four patients underwent PD for resection of recurrent disease. 75% (9/12 patients) received neoadjuvant therapy. The median operative time was approximately 7hours with a mean blood loss of 590cm(3). The distal pancreas was invaginated into the posterior stomach (n=3) or into the jejunum (n=5) or was directly sewn to the jejunal mucosa (n=4). There were no operative deaths. There were 4 patients (34%) with grade II complications, 1 with a grade IIIb complication (chest tube), and 1 with a grade IV complication (reexploration). The most common long-term morbidity was pancreas exocrine supplementation (n=10; 83%). Five patients (42%) diagnosed with either solid pseudopapillary tumor or rhabdomyosarcoma are currently alive with a mean survival of 77.4months.
CONCLUSION: Pancreaticoduodenectomy is a feasible management strategy for pediatric pancreatic malignancies and is associated with acceptable morbidity and overall survival. Long-term outcome is mostly dependent on histology of the tumor.
LEVEL OF EVIDENCE: Level IV; retrospective study with no comparison group.

Related: Neuroblastoma Cancer of the Pancreas Pancreatic Cancer

Kollár A, Langer R, Ionescu C, et al.
Pleomorphic rhabdomyosarcoma with an impressive response to chemotherapy: case report and review of the literature.
Tumori. 2016; 102(Suppl. 2) [PubMed] Related Publications
PURPOSE: Pleomorphic rhabdomyosarcoma (RMS) represents a rare sarcoma subtype of the adult population. Due to its clinical characteristics, treatment is currently based on the guidelines for adult soft tissue sarcoma therapy. Hence, in the metastatic setting, doxorubicin-containing regimens are used in the sarcoma community, with limited treatment benefit. Scanty published data are available on the efficacy of systemic treatment. Whether treatment response and outcome of these patients could be improved by using pediatric protocols used typically in other RMS subtypes, like embryonal and alveolar RMS, is unclear. We report on an impressive effect of multiagent pediatric chemotherapy in an adult patient with metastatic pleomorphic RMS.
METHODS: We present the case of a 70-year-old man with metastatic pleomorphic RMS of his left thigh. Systemic chemotherapy according to the VAC regimen (vincristine, actinomycin, cyclophosphamide) was initiated. Follow-up clinical and radiologic assessment demonstrated an impressive treatment response.
RESULTS: Sixteen months after primary diagnosis, computed tomography scan shows no signs of tumor progression.
CONCLUSIONS: Our case report emphasizes that multiagent systemic therapy according to pediatric protocols should be considered in adult patients with pleomorphic RMS.

Related: Cyclophosphamide Doxorubicin Vincristine

Balogh P, Bánusz R, Csóka M, et al.
Primary alveolar rhabdomyosarcoma of the bone: two cases and review of the literature.
Diagn Pathol. 2016; 11(1):99 [PubMed] Article available free on PMC after 01/02/2018 Related Publications
BACKGROUND: Rhabdomyosarcoma (RMS) is a malignant tumor of mesenchymal origin and comprises the largest category of soft-tissue sarcomas both in children and adolescents. From a pediatric oncology point of view, RMS has traditionally been classified into alveolar (ARMS) and embryonal (ERMS) subtypes. The anatomical localization of the tumor may vary, but commonly involve the head/neck regions, male and female urogenital tract or the trunk and extremities.
CASE PRESENTATION: Here, we report two challenging cases involving 17- and 9-years-olds males where diffuse and multiplex bone lesions suggested either a hematological disease or a primary bone tumor (mesenchymal chondrosarcoma). Biopsies, proved a massive infiltration of the bone marrow cavity with rhabdomyosarcoma. In both cases, the ARMS subtype was confirmed using FOXO1 break-apart probes (FISH). Radiological examination could not identify primary soft tissue component in any localization at the time of diagnosis in either cases.
CONCLUSIONS: Primary alveolar rhabdomyosarcoma of the bone as a subtype of ARMS, seems to be a distinct clinico-pathological entity with challenging diagnostic difficulties and different, yet better, biological behavior in comparison to soft tissue ARMS. However, it is difficult to be characterized or predict its prognosis and long-term survival as only sporadic cases (four) were reported so far.

Related: Bone Cancers FISH FOXO1A MYOG

Mahana S, Tomar R, Agarwal A, et al.
Spindle-cell rhabdomyosarcoma of the thumb: Rare site, rare tumor in a child.
Diagn Cytopathol. 2016; 44(12):1094-1097 [PubMed] Related Publications
Spindle-cell rhabdomyosarcoma (RMS) is a relatively recently recognized favorable variant of embryonal RMS occurring mainly in the paratesticular and head and neck regions. Cytological reports of spindle-cell RMS have been sparse in the literature and the awareness of its cytological features is not very wide among cytopathologists. A 2-year-old girl was brought to clinical attention for a progressively enlarging swelling of right thumb. Imaging studies showed it to be a soft-tissue tumor in the subcutaneous region. Fine-needle aspiration yielded moderately cellular smears composed of small, round cells and few spindle cells with tapered cytoplasm. A cytological impression of RMS was rendered, which was later confirmed as spindle-cell RMS on excision biopsy. Spindle-cell RMS, a favorable prognostic variant of embryonal RMS, should be considered in the cytologic diagnosis of soft-tissue tumors with round cell and spindle cell morphology. This is especially true for tumors occurring in hitherto unreported sites. Diagn. Cytopathol. 2016;44:1094-1097. © 2016 Wiley Periodicals, Inc.

Prestegui-Martel B, Bermúdez-Lugo JA, Chávez-Blanco A, et al.
N-(2-hydroxyphenyl)-2-propylpentanamide, a valproic acid aryl derivative designed in silico with improved anti-proliferative activity in HeLa, rhabdomyosarcoma and breast cancer cells.
J Enzyme Inhib Med Chem. 2016; 31(sup3):140-149 [PubMed] Related Publications
Epigenetic alterations are associated with cancer and their targeting is a promising approach for treatment of this disease. Among current epigenetic drugs, histone deacetylase (HDAC) inhibitors induce changes in gene expression that can lead to cell death in tumors. Valproic acid (VPA) is a HDAC inhibitor that has antitumor activity at mM range. However, it is known that VPA is a hepatotoxic drug. Therefore, the aim of this study was to design a set of VPA derivatives adding the arylamine core of the suberoylanilide hydroxamic acid (SAHA) with different substituents at its carboxyl group. These derivatives were submitted to docking simulations to select the most promising compound. The compound 2 (N-(2-hydroxyphenyl)-2-propylpentanamide) was the best candidate to be synthesized and evaluated in vitro as an anti-cancer agent against HeLa, rhabdomyosarcoma and breast cancer cell lines. Compound 2 showed a better IC50 (μM range) than VPA (mM range) on these cancer cells. And also, 2 was particularly effective on triple negative breast cancer cells. In conclusion, 2 is an example of drugs designed in silico that show biological properties against human cancer difficult to treat as triple negative breast cancer.

Related: Breast Cancer

Burnik Papler T, Frković Grazio S, Kobal B
Sertoli - Leydig cell tumor with retiform areas and overgrowth of rhabdomyosarcomatous elements: case report and literature review.
J Ovarian Res. 2016; 9(1):46 [PubMed] Article available free on PMC after 01/02/2018 Related Publications
BACKGROUND: Sertoli - Leydig cell tumors (SLCTs) are sex-cord stromal tumors that account less than 0.5 % of primary ovarian neoplasms. They are mostly benign and occur in reproductive age women. Variants with heterologous mesenchymal elements are exceptionaly rare. The usual presentation of SLCTs is with signs of androgen excess as majority of them produce androgens.
CASE PRESENTATION: We present a case of a SLCT occurring in a 70 year old woman. Her presenting complaint was abdominal distension and pain. She had no signs of androgen or estrogen excess. Transvaginal ultrasound (TVUS) and CT scan showed a multilocular adnexal tumor and level of CA 125 was raised. A complete cytoreduction was achieved with surgical procedure. Histopathological examination revealed moderately differentiated SLCT with retiform areas and owergrowth of heterologous component in form of embrional rhabdomyosarcoma (RMS). She returned 7 months after the surgery with a large abdominal mass, ascites, right- sided hydronephrosis and massive pulmonary embolism. Due to the widespread disease and her poor general condition, she received only palliative care. She died 15 days after the admission. No autopsy was performed.
CONCLUSIONS: Due to the rarity of SLCTs, especially those with retiform areas and heterologous elements, their management remains challenging. There is no firm evidence that adjuvant chemotherapy is effective in improving survival in SLCTs with malignant heterologous elements. Further studies with a higher number of cases and a longer follow-up are needed to better predicting the prognosis and determine the role of chemotherapy in such cases.

Related: Ovarian Cancer

Gys B, Peeters D, Driessen A, et al.
Adult suprapatellar pleiomorphic rhabdomyosarcoma with jejunal metastasis causing intussusception: a case report.
Acta Chir Belg. 2016; 116(6):376-378 [PubMed] Related Publications
Jejuno-jejunal intussusception is rarely encountered in adults. Management depends on the viability of the involved bowel. Exploration is favored because in adults generally an underlying 'lead point' is found to be present. Pleimorphic rhabdomyosarcoma (pRMS) arises from striated muscle cells. They are usually diagnosed during childhood and can occur virtually all over the body, controversially in places were few striated cells are found. In adults, these tumors are rare and are mostly encountered in the head-and-neck region. We present the case of a 48-year-old woman with a jejunal metastasis from a suprapatellar pRMS diagnosed 2.5 years earlier resulting in a jejuno-jejunal intussusception.

Related: Bone Cancers

Schildhaus HU, Lokka S, Fenner W, et al.
Spindle cell embryonal rhabdomyosarcoma of the prostate in an adult patient - case report and review of clinicopathological features.
Diagn Pathol. 2016; 11(1):56 [PubMed] Article available free on PMC after 01/02/2018 Related Publications
BACKGROUND: Embryonal rhabdomyosarcoma of the prostate in an adult is a very rare event with only a few cases published. Diagnosis usually occurs with advanced disease frequently already with metastatic spread. In adults prognosis is very poor, therefore early diagnosis is crucial. To date, only three cases of spindle cell subtype of embryonal rhabdomyosarcoma of the prostate in an adult have been published.
CASE PRESENTATION: We report an additional case of prostatic spindle cell embryonal rhabdomyosarcoma subtype in an adult.
CONCLUSIONS: We discuss relevant clinicopathological features of spindle cell embryonal rhabdomyosarcoma of the prostate in adult patients in the context of the literature.

Related: Prostate Cancer

Kurtoglu E, Celik H, Kokcu A, et al.
Undifferentiated pleomorphic sarcoma with focally rhabdomyosarcomatous differentiation of the ovary.
Eur J Gynaecol Oncol. 2016; 37(3):401-3 [PubMed] Related Publications
PURPOSE OF INVESTIGATION: Primary sarcomas account for of 2-3% of all female genital tract cancers and ovaries are unusual sites for sarcomas. The authors aimed to report a case of primary ovarian sarcoma.
MATERIALS AND METHODS: A 46-year-old woman presented with abdominal pain and distention. Abdominal MRI revealed a 20-cm-sized complex mass in the right adnexa and ascites. Preoperative CA-125 was 289 U/ml. She underwent optimal debulking surgery and diagnosed with undifferentiated pleomorphic sarcoma with focally rhabdomyosarcomatous differentiation.
RESULTS: The patient presented with severe abdominal pain and distention 32 days after the operation and recurrent disease was diagnosed. First cure of adjuvant chemotherapy was administered, but she died 15 days later.
CONCLUSION: Coexistence of undifferentiated pleomorphic sarcoma and rhabdomyosarcoma shows highly aggressive behavior and its prognosis is extremely poor. To the best of the authors' knowledge, this is the second case report of the coexistence of these type tumors in the literature.

Related: Ovarian Cancer Soft Tissue Sarcomas

Bastier PL, de Gabory L
Design and assessment of an anatomical diagram for sinonasal malignant tumour resection.
Rhinology. 2016; 54(4):361-367 [PubMed] Related Publications
BACKGROUND: The aim of our work was to design and assess the comprehensibility of an anatomical diagram for recording surgical and pathological results after the removal of sinonasal malignant tumours by endoscopic endonasal surgery.
METHODOLOGY: To create the first version of the diagram, we determined the functional and technical specifications for its use. The anatomical structures that appear on it were selected from the pathological reports of previous interventions. The comprehensibility of the diagram was tested by two successive multicentre labelling tests. Successive modifications led to the creation of a definitive version of the diagram.
RESULTS: A diagram of the sinonasal cavities in exploded view was created from 47 selected anatomical structures. Labelling tests led to modifying the diagram by the overall restructuring and removal of the least recognized structures. In the labelling test of version 2, the mean global identification rate was 97.1 plus/minus 4.9% for 36 participants and all tested structures achieved a specific identification rate equal to or greater than 75%.
CONCLUSIONS: This diagram of the sinonasal cavities is a comprehensible validated tool that allows the resection and invasion of sinonasal malignant tumours to be recorded. This three-dimensional diagram facilitates the understanding of the size, location and extensions of tumours. It may improve case presentations and communication in multidisciplinary team meetings.

Related: Melanoma

Sasada S, Kodaira M, Shimoi T, et al.
Ifosfamide and Etoposide Chemotherapy in the Treatment of Recurrent/Refractory Rhabdomyosarcoma in Adults.
Anticancer Res. 2016; 36(5):2429-32 [PubMed] Related Publications
BACKGROUND: No standard chemotherapy for adults with recurrent/refractory rhabdomyosarcoma (RMS) has yet been established. The present study aimed to assess the effect of ifosfamide and etoposide (IE) chemotherapy on previously treated RMS.
PATIENTS AND METHODS: Adults with recurrent/refractory RMS were treated with ifosfamide (1,800 g/m(2)/day), etoposide (100 mg/m(2)/day) and mesna (1,080 mg/m(2)/day) for 5 days. The effect and toxicity were evaluated by chart review.
RESULTS: Fifteen patients, with a median age of 33 years (range=25-67 years), were treated with IE chemotherapy. A median of six cycles of chemotherapy were administered and an objective response was obtained in eight patients. The median progression-free survival was 5.2 months (95% confidence interval=2.3-6.7 months) and overall survival was 14.4 months (95% confidence interval=4.6-28.3 months). Toxicity greater than grade 3 was as follows: neutropenia in all patients, anemia in seven, thrombocytopenia in seven and febrile neutropenia in eight.
CONCLUSION: IE chemotherapy could be an alternative optional treatment method in adults with recurrent/refractory RMS.

Related: Etoposide Ifosfamide

Bannister M, Vallamkondu V, Ah-See KW
Emergency presentations of head and neck cancer: a modern perspective.
J Laryngol Otol. 2016; 130(6):571-4 [PubMed] Related Publications
BACKGROUND: Head and neck cancer emergency presentations are uncommon but persistent. However, there is little published literature on this aspect of cancer and patient demographics. This study aimed to assess the incidence, patient profile, tumour site and stage of emergency cancer presentations in our region.
METHOD: Retrospective review of regional cancer database over a five-year period.
RESULTS: Emergency presentations accounted for 7 per cent of all cases. There was no difference in patient age and risk factors between the emergency and non-emergency presentations. The emergency presentation group showed a greater proportion of female patients compared to the non-emergency presentation group (30 vs 15 per cent). In all emergency presentations, the cancer was at advanced stages. Oropharyngeal cancer was the commonest emergency presentation of cancer, but the third commonest in the non-emergency group.
CONCLUSION: Emergency presentations are increasing annually. Female patients and oropharyngeal cancer showed greater representation compared to male patients and laryngeal cancer.

Related: Head and Neck Cancers Head and Neck Cancers - Molecular Biology Cancer of the Larynx Laryngeal Cancer - Molecular Biology Melanoma Oral Cancer Oropharyngeal Cancer

Gravina GL, Festuccia C, Popov VM, et al.
c-Myc Sustains Transformed Phenotype and Promotes Radioresistance of Embryonal Rhabdomyosarcoma Cell Lines.
Radiat Res. 2016; 185(4):411-22 [PubMed] Related Publications
We have previously reported that the MEK/ERK pathway sustains in vitro and in vivo transformed phenotype and radioresistance of embryonal rhabdomyosarcoma (ERMS) cell lines. Furthermore, we found that aberrant MEK/ERK signaling activation promotes c-Myc oncoprotein accumulation. In this study, the role of c-Myc in sustaining the ERMS transformed and radioresistant phenotype is characterized. RD and TE671 cell lines conditionally expressing MadMyc chimera protein, c-Myc-dominant negative and shRNA directed to c-Myc were used. Targeting c-Myc counteracted in vitro ERMS adherence and in suspension, growth motility and the expression of pro-angiogenic factors. c-Myc depletion decreased MMP-9, MMP-2, u-PA gelatinolytic activity, neural cell adhesion molecule sialylation status, HIF-1α, VEGF and increased TSP-1 protein expression levels. Rapid but not sustained targeting c-Myc radiosensitized ERMS cells by radiation-induced apoptosis, DNA damage and impairing the expression of DNA repair proteins RAD51 and DNA-PKcs, thereby silencing affected ERMS radioresistance. c-Myc sustains ERMS transformed phenotype and radioresistance by protecting cancer cells from radiation-induced apoptosis and DNA damage, while promoting radiation-induced DNA repair. This data suggest that c-Myc targeting can be tested as a promising treatment in cancer therapy.

Related: Apoptosis Angiogenesis and Cancer

Shah T, Abu-Sanad O, Marsh H
Role of magnetic resonance imaging in the early diagnosis of paratesticular rhabdomyosarcoma.
Ann R Coll Surg Engl. 2016; 98(5):e74-6 [PubMed] Article available free on PMC after 01/02/2018 Related Publications
INTRODUCTION: Paratesticular lesions are common, and one subgroup is paratesticular rhabdomyosarcoma. The latter is a relatively uncommon (but aggressive) tumour that affects children and adolescents predominantly. Ultrasound is the first-line investigation, but can be inconclusive. Magnetic resonance imaging (MRI) can provide useful information, but its role in the diagnosis of rhabdomyosarcoma is not clear.
CASE HISTORY: We report a 17-year-old male who presented with a one-month history of a rapidly enlarging, non-tender, lump in the right testicle. Urgent ultrasound of the scrotum revealed a heterogenous paratesticular mass that was hypervascular and showed calcification in the right inguinal area. MRI of the pelvis showed a solid, enhancing lesion of dimension located superior to the upper pole of the right testes and a slightly heterogeneous T2 signal, but was homogenous post-contrast. The patient underwent right radical orchidectomy, and histology results were assessed. He received chemotherapy and is being followed up.
CONCLUSIONS: Improvements in imaging in addition to early surgical intervention and chemotherapy treatment are crucial to improve survival chances against rhabdomyosarcoma. Ultrasound findings for benign diseases may mimic those seen in rhabdomyosarcoma. In such cases of diagnostic uncertainty, our surgical team suggest MRI to reduce the risk of a delayed diagnosis and time to treatment.

Related: Testicular Cancer

Tran LB, Bol A, Labar D, et al.
DW-MRI and (18) F-FLT PET for early assessment of response to radiation therapy associated with hypoxia-driven interventions. Preclinical studies using manipulation of oxygenation and/or dose escalation.
Contrast Media Mol Imaging. 2016 Mar-Apr; 11(2):115-21 [PubMed] Related Publications
Early markers of treatment response may help in the management of patients by predicting the outcome of a specific therapeutic intervention. Here, we studied the potential value of diffusion-weighted MRI (DW-MRI) and (18)F-fluorothymidine ((18)F-FLT), markers of cell death and cell proliferation respectively, to predict the response to irradiation. In addition, dose escalation and/or carbogen breathing were used to modulate the response to irradiation. The studies were performed on two hypoxic rat tumor models: rhabdomyosarcoma and 9L-glioma. The rats were imaged using MRI and PET before and two days after the treatment. In both tumor models, changes in ADC (apparent diffusion coefficient) and (18)F-FLT SUV (standardized uptake value) were significantly correlated with the tumor growth delay. For both tumor models, the ADC values increased in all irradiated groups two days after the treatment while they decreased in the untreated groups. At the same time, the uptake of (18)F-FLT increased in the untreated groups and decreased in all treated groups. Yet, ADC values were not sensitive enough to predict the added value of dose escalation or carbogen breathing in either model. Change in (18)F-FLT uptake was able to predict the higher tumor response when using increased dose of irradiation, but not when using a carbogen breathing challenge. Our results also emphasize that the magnitude of change in (18)F-FLT uptake was strongly dependent on the tumor model.

Sookprasert A, Ungareewittaya P, Manotepitipongse A, et al.
Treatment Outcome and Predictors of Survival in Thai Adult Rhabdomyosarcoma Cases.
Asian Pac J Cancer Prev. 2016; 17(3):1449-52 [PubMed] Related Publications
BACKGROUND: Adult rhabdomyosarcoma (RMS) is a rare and aggressive disease with limited data compared with pediatric RMS. The goal of this study was to determine the treatment outcome and identify factors related to survival outcome in Thailand.
MATERIALS AND METHODS: Adult patients (≥15 years old) with the pathological diagnosis of RMS between 1985 and 2010 were reviewed. The data were retrospectively reviewed from the pathological results and medical records from Srinagarind Hospital, Khon Kaen University.
RESULTS: A total of 34 patients were identified in the study. The median age at diagnosis was 35.5 years and the most common primary sites were extremity and the head and neck region. The incidence of pleomorphic RMS increased with age and none was found in those aged younger than 20 years old. The median survival time was 9.33 months (95%CI: 5.6-13.1). The 1- and 5- year survival rates were 38.2% (22.3-54.0) and 20.6% (9.1-35.3). On multivariate analysis, age and size of tumor did not predict better outcome while chemotherapy and surgery were significantly associated with longer survival.
CONCLUSIONS: Outcome of adult RMS was poor. Surgery and chemotherapy are s trongly associated with better prognosis and multimodality treatment should be incorporated in the clinic.

Dergan J, Sirsi S, Asarian A, et al.
Rhabdomyosarcoma masquerading as lymphadenopathy in a patient with newly diagnosed Hodgkin's lymphoma.
World J Surg Oncol. 2016; 14:101 [PubMed] Article available free on PMC after 01/02/2018 Related Publications
BACKGROUND: Hodgkin's lymphoma (HL) is a rare malignancy which often presents with lymphadenopathy and classic "B symptoms" of weight loss, fever, and night sweats. Additional masses or nodes could easily be presumed to be a result of the initial diagnosis. On the other hand, adult rhabdomyosarcoma is a rare malignancy presenting with a new mass in a patient with previous diagnosis of Hodgkin's lymphoma. In both cases, a tissue diagnosis should be obtained to appropriately confirm the diagnosis.
CASE PRESENTATION: We present a case of a 64-year-old male who presents with right axillary lymphadenopathy, diagnosed as Hodgkin's lymphoma. He subsequently developed left inguinal lymphadenopathy without the classic B symptoms of HL. Excisional biopsy revealed rhabdomyosarcoma. Stage III Hodgkin's lymphoma (lymph node involvement on both sides of the diaphragm) is not commonly seen without typical B symptoms. Once the diagnosis of two primary malignancies is made, the dilemma becomes determining the treatment course. In the case of Hodgkin's lymphoma and rhabdomyosarcoma, there is some overlap in the chemotherapeutic regimen and use of radiation.
CONCLUSIONS: This case illustrates the importance of careful examination of Hodgkin's lymphoma patients and consideration of additional tissue diagnoses in atypical presentations of new masses or lymphadenopathy on the opposite side of the diaphragm.

Related: Hodgkin's Lymphoma

Bravo-Ljubetic L, Peralta-Calvo J, Larrañaga-Fragoso P, et al.
Clinical Management of Orbital Rhabdomyosarcoma in a Referral Center in Spain.
J Pediatr Ophthalmol Strabismus. 2016 Mar-Apr; 53(2):119-26 [PubMed] Related Publications
PURPOSE: To review the systemic and ocular outcomes and long-term status of ocular rhabdomyosarcoma in pediatric patients in a tertiary center in Spain.
METHODS: All patients younger than 18 years who were diagnosed as having ocular rhabdomyosarcoma and treated between 1982 and 2011 at La Paz University Hospital, Madrid, Spain, were included. Clinical presentation, management, complications, and ocular and systemic outcomes were reviewed.
RESULTS: The mean age at presentation was 8 years (range: 3 months to 12.5 years). In all cases, the rhabdomyosarcoma was located primarily in the orbit. Treatment included surgical debulking and various regimens of chemotherapy and radiotherapy. All of the patients underwent surgical biopsy for diagnosis confirmation. Orbital exenteration was performed in 4 cases (28%). Twelve patients received radiotherapy. The long-term visual outcomes of the 10 patients who maintained their globe was as follows: best corrected visual acuity 20/20 to 20/40 in 6 patients (60%), 20/50 to 20/100 in 2 patients (20%), and 20/200 to no light perception in 2 patients (20%). Intraocular complications (primarily cataracts: 50%) were present in 7 patients (70%), ocular surface lesions occurred in 6 patients (60%), and orbital sequelae were found in 8 patients (80%). Local tumor recurrence was detected in 5 patients (35%) and distant metastasis occurred in 2 patients (14%). Tumor-related death occurred in 1 patient (7%).
CONCLUSIONS: Orbital rhabdomyosarcoma has an excellent prognosis; nevertheless, local complications are common, including surgery-related complications. To minimize them, initial surgical planning based on individual patient characteristics and an accurate diagnosis of relapses is mandatory. The clinical presentation, management, and long-term ocular and systemic outcomes are comparable with other series published to date.

Do TH, Nguyen DM, Truong VD, et al.
Synthesis and Selective Cytotoxic Activities on Rhabdomyosarcoma and Noncancerous Cells of Some Heterocyclic Chalcones.
Molecules. 2016; 21(3):329 [PubMed] Related Publications
Chemically diverse heterocyclic chalcones were prepared and evaluated for cytotoxicity, aiming to push forward potency and selectivity. They were tested against rhabdomyosarcoma (RMS) and noncancerous cell line (LLC-PK1). The influence of heteroaryl patterns on rings A and B was studied. Heterocycle functionalities on both rings, such as phenothiazine, thiophene, furan and pyridine were evaluated. Notably, the introduction of three methoxy groups at positions 3, 4, 5 on ring B appears to be critical for cytotoxicity. The best compound, with potent and selective cytotoxicity (IC50 = 12.51 μM in comparison with the value 10.84 μM of paclitaxel), contains a phenothiazine moiety on ring A and a thiophene heterocycle on ring B. Most of the potential compounds only show weak cytoxicity on the noncancerous cell line LLC-PK1.

Taran K, Frączek T, Sitkiewicz A, et al.
Rhabdomyosarcoma in children in the light of isotope ratio mass spectrometry.
Pol J Pathol. 2015; 66(4):383-8 [PubMed] Related Publications
Rhabdomyosarcoma is the third most common solid tumor in children and the most common soft tissue sarcoma in this age group. However, 5-year survival is only observed in approximately 70% of cases, and the prognosis for patients with progressive disease is still poor. The authors hypothesize that the still unidentified differences in embryonal and alveolar tumor biology reflect the complex chemical reactions occurring during cell growth and metabolism and may be pursued in isotopic fractionation processes. Presented herein is the first evaluation of the nitrogen and carbon isotope ratio using isotope ratio mass spectrometry in the two major rhabdomyosarcoma histologic types. 15N enrichment was found in tumor tissues of embryonal histological type. The obtained result may indicate that individual patient considerations such as isotope ratio, in addition to widely accepted prognostic factors, may facilitate patient classification in terms of risk groups.

Hsieh YJ, Yen MH, Chiang YW, et al.
Gan-Lu-Siao-Du-yin, a prescription of traditional Chinese medicine, inhibited enterovirus 71 replication, translation, and virus-induced cell apoptosis.
J Ethnopharmacol. 2016; 185:132-9 [PubMed] Related Publications
ETHNOPHARMACOLOGICAL RELEVANCE: Gan-Lu-Siao-Du-yin (GLSDY) is a prescription of traditional Chinese medicine. GLSDY contains 11 ingredients and is commonly used for endemic diseases. Enterovirus 71 (EV71) is an endemic disease that can cause meningoencephalitis with mortality and neurologic sequelae without any effective management. It is unknown whether GLSDY is effective against EV71 infection.
AIM OF THE STUDY: To test the hypothesis that GLSDY can protect cell from EV71-induced injury.
MATERIALS AND METHODS: Effects of a hot water extract of GLSDY on EV71 were tested in human foreskin fibroblast cells (CCFS-1/KMC) and human rhabdomyosarcoma cells (RD cells) by plaque reduction assay and flow cytometry respectively. Inhibition of viral replication was further examined by reverse quantitative RT-PCR (qRT-PCR). Its effect on viral protein translation and virus-induced apoptosis were examined by western blot.
RESULTS: GLSDY was dose-dependently effective against EV71 infection (p<0.0001) in both CCFS-1/KMC cells and RD cells. GLSDY was highly effective when supplemented after viral inoculation (P<0.0001) with an IC50 of 8.7μg/mL. GLSDY inhibited viral RNA replication (P<0.0001), formation of viral structural proteins (VP0, VP1, VP2 and VP3) and non-structural proteins (protease 2B and 3AB). Furthermore, 300μg/mL GLSDY is effective to inhibit virus-induced apoptosis possibly through direct inhibition of caspase-8 and indirectly by inhibition of Bax.
CONCLUSIONS: GLSDY is cheap and readily available to manage EV71 infection by inhibiting viral replication, viral protein formations, and EV71-induced apoptosis.

Related: Apoptosis

Poniewierska-Baran A, Schneider G, Sun W, et al.
Human rhabdomyosarcoma cells express functional pituitary and gonadal sex hormone receptors: Therapeutic implications.
Int J Oncol. 2016; 48(5):1815-24 [PubMed] Article available free on PMC after 01/02/2018 Related Publications
Evidence has accumulated that sex hormones play an important role in several types of cancer. Because they are also involved in skeletal muscle development and regeneration, we were therefore interested in their potential involvement in the pathogenesis of human rhabdomyosarcoma (RMS), a skeletal muscle tumor. In the present study, we employed eight RMS cell lines (three fusion positive and five fusion negative RMS cell lines) and mRNA samples obtained from RMS patients. The expression of sex hormone receptors was evaluated by RT-PCR and their functionality by chemotaxis, adhesion and direct cell proliferation assays. We report here for the first time that follicle-stimulating hormone (FSH) and luteinizing hormone (LH) receptors are expressed in established human RMS cell lines as well as in primary tumor samples isolated from RMS patients. We also report that human RMS cell lines responded both to pituitary and gonadal sex hormone stimulation by enhanced proliferation, chemotaxis, cell adhesion and phosphorylation of MAPKp42/44 and AKT. In summary, our results indicate that sex hormones are involved in the pathogenesis and progression of RMS, and therefore, their therapeutic application should be avoided in patients that have been diagnosed with RMS.

Ueno T, Uehara S, Nakahata K, Okuyama H
Survivin selective inhibitor YM155 promotes cisplatin‑induced apoptosis in embryonal rhabdomyosarcoma.
Int J Oncol. 2016; 48(5):1847-54 [PubMed] Related Publications
Survivin, a member of the inhibitor of apoptosis protein family, functions as a key regulator of programmed cell death. YM155 is a small molecule that selectively inhibits survivin. We investigated the effect of YM155 on survivin suppression in the human rhabdomyosarcoma (RMS) cell line RD. The efficacy of YM155 in combination with cisplatin was also determined in a xenograft model. The effect of YM155 on survivin expression in the RD cell line was examined at both mRNA and protein levels using real-time PCR and western blot analysis. RD cells were cultured with various concentrations of YM155, then cisplatin was added to the medium and the anti-proliferation response was determined. Cell growth was evaluated by WST-8 assay. Finally, the efficacy of YM155 combined with cisplatin was examined in an established xenograft model. Survivin mRNA levels in the RD cell line were decreased to 72 and 24% at 24 and 48 h, respectively, after 10 nM of YM155 was added. YM155 also decreased the levels of survivin protein. YM155 treatment (10 nM) inhibited cell proliferation of RD in a dose-dependent manner in vitro, with 58% of cells viable at 48 h. When cultured with 10 nM of YM155 and 10 µM cisplatin, RD cells demonstrated only 25% of the growth observed when cultured with cisplatin alone. YM155 in combination with cisplatin significantly inhibited tumor growth by 13% compared with control (P<0.0001) in RD xenograft tumors. YM155 increased the sensitivity of cisplatin by suppressing survivin in the embryonal RMS cell line RD. Further studies should investigate the use of YM155 as an apoptosis inducer, either alone or in combination with cisplatin, for the treatment of malignant RMS.

Related: Apoptosis Cisplatin BIRC5

Burattini S, Battistelli M, Codenotti S, et al.
Melatonin action in tumor skeletal muscle cells: an ultrastructural study.
Acta Histochem. 2016; 118(3):278-85 [PubMed] Related Publications
Melatonin (Mel), or N-acetyl-5-methoxytryptamine, is a circadian hormone that can diffuse through all the biological membranes thanks to its amphiphilic structure, also overcoming the blood-brain barrier and placenta. Although Mel has been reported to exhibit strong antioxidant properties in healthy tissues, studies carried out on tumor cultures gave a different picture of its action, often describing Mel as effective to trigger the cell death of tumor cells by enhancing oxidative stress. Based on this premise, here Mel effect was investigated using a tumor cell line representative of the human alveolar rhabdomyosarcoma (ARMS), the most frequent soft tissue sarcoma affecting childhood. For this purpose, Mel was given either dissolved in ethanol (EtOH) or dimethyl sulfoxide (DMSO) at different concentrations and time exposures. Cell viability assays and ultrastructural observations demonstrated that Mel was able to induce a dose- and time-dependent cell death independently on the dissolution solvent. Microscopy analyses highlighted the presence of various apoptotic and necrotic patterns correlating with the increasing Mel dose and time of exposure. These findings suggest that Mel, triggering apoptosis in ARMS cells, could be considered as a promising drug for future multitargeted therapies.

Related: Apoptosis

Ishi Y, Yamaguchi S, Iguchi A, et al.
Primary pineal rhabdomyosarcoma successfully treated by high-dose chemotherapy followed by autologous peripheral blood stem cell transplantation: case report.
J Neurosurg Pediatr. 2016; 18(1):41-5 [PubMed] Related Publications
Primary intracranial rhabdomyosarcoma is quite rare, and its prognosis is poor compared with that for rhabdomyosarcoma in other organs. The authors present a case of pineal rhabdomyosarcoma successfully managed with multimodal therapy including surgery, chemotherapy, radiation, and high-dose chemotherapy (HDC) followed by autologous peripheral blood stem cell transplantation (HDC/APBSCT). An 8-year-old girl presenting with headache and nausea was referred to the authors' institution. Computed tomography and MRI revealed a pineal tumor associated with obstructive hydrocephalus. Subsequently, an emergent endoscopic tumor biopsy and third ventriculostomy were performed. The patient's symptoms immediately improved. The most likely pathological diagnosis was embryonal rhabdomyosarcoma. Chemotherapy with etoposide, cyclophosphamide, cisplatin, pirarubicin, ifosfamide, actinomycin D, and vincristine was followed by a second-look operation and whole-brain and craniospinal radiation. Because the intraoperative findings and pathological examination of the second operation suggested a definitive diagnosis of rhabdomyosarcoma and the presence of viable residual tumor cells, HDC with etoposide and melphalan was followed by APBSCT. The patient was discharged from the hospital without residual tumor or any neurological deficit. No recurrence was observed at 30 months. This is the first case of primary pineal rhabdomyosarcoma treated with HDC/APBSCT. Although the efficacy of HDC/APBSCT for rhabdomyosarcoma has not been established, the prognosis of primary intracranial rhabdomyosarcoma treated with conventional treatment is quite poor. High-dose chemotherapy followed by APBSCT may contribute to a better prognosis for primary intracranial rhabdomyosarcoma.

Related: Childhood Brain Tumours Childhood Brain Tumors

Khosla D, Sapkota S, Kapoor R, et al.
Adult rhabdomyosarcoma: Clinical presentation, treatment, and outcome.
J Cancer Res Ther. 2015 Oct-Dec; 11(4):830-4 [PubMed] Related Publications
OBJECTIVE: Rhabdomyosarcoma (RMS) in adults is a rare malignancy. The objective of our study was to determine presentation, treatment, patterns of failure, and outcome in this disease.
MATERIALS AND METHODS: A retrospective analysis of 25 patients of adult (>16 years) RMS who were treated at our institute from 2000 to 2009 was carried out. Tumors were classified according to the Intergroup Rhabdomyosarcoma Study (IRS) staging. All patients were treated with multimodality treatment except for three patients who received chemotherapy as the only modality.
RESULTS: The median age was 19 years (range, 16-68 years). The most common site was head and neck (52%) followed by extremities (24%), genitourinary (20%), and retroperitoneal RMS (4%). Three out of 25 patients presented with distant metastasis. With a median follow-up of 45 months, the 5-year overall survival (OS) rate was 45%. The 5-year local control (LC) rate was 53%. IRS grouping and complete response after primary therapy were predictors of a better survival.
CONCLUSIONS: RMS in adults have poor prognosis as compared to childhood RMS. Adult RMS should therefore be treated aggressively with multidisciplinary approach comprising of surgery, radiation, and chemotherapy to achieve cure and prolonged survival.

Vora M, Ansari J, Shanti RM, et al.
Increased Nicotinamide Phosphoribosyltransferase in Rhabdomyosarcomas and Leiomyosarcomas Compared to Skeletal and Smooth Muscle Tissue.
Anticancer Res. 2016; 36(2):503-7 [PubMed] Related Publications
Nicotinamide phosphoribosyltransferase (NAMPT) catalyzes the rate-limiting step in NAD synthesis and is up-regulated in several human malignancies, including breast, colon, prostate, thyroid, gastric, and several hematopoietic malignancies. In some malignancies, such as gastric, thyroid, and prostate carcinomas, higher NAMPT expression correlates with deeper tumor invasion, increased metastatic potential and chemotherapy resistance. We employed tissue microarray immunohistochemistry to examine NAMPT expression in benign skeletal and smooth muscle, leiomyomas, leiomyosarcomas (graded low-, intermediate-, and high-grade), and spindle, embryonal, pleomorphic, and alveolar rhabdomyosarcomas. We found low to intermediate NAMPT expression in benign tissue, leiomyomas, leiomyosarcomas (low- and intermediate-grades), and spindle cell rhabdomyosarcomas. In contrast, high-grade leiomyosarcomas and embryonal, alveolar, and pleomorphic rhabdomyosarcomas showed high NAMPT expression. Herein we show for the first time that NAMPT is overexpressed in certain sarcoma types and the level of NAMPT expression correlates with tumor behavior.

Related: Cytokines

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