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Pheochromocytoma and Paraganglioma

Paragangliomas are rare tumors which form in neural crest tissue, a type of nerve tissue found in the adrenal glands and near certain blood vessels and nerves throughout the body. Paragangliomas that develop in the adrenal glands are called pheochromocytomas. Those that develop outside the adrenal glands ('extra-adrenal') are called paragangliomas. Most of these tumors are considered to be benign and about a quarter of cases are known to be related to inherited genetic conditions.

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Endocrine Cancers

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Latest Research Publications

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

Cai S, Kong X, Yan C, et al.
Successful treatment of metastatic pheochromocytoma in the spine with cement augmentation.
Medicine (Baltimore). 2017; 96(4):e5892 [PubMed] Free Access to Full Article Related Publications
Metastatic pheochromocytoma in the spine is rare, and there is no standard curative management. Treatment via open surgery is often risky in the perioperative period, while osteoplasty by cement augmentation is a less invasive option.We describe 2 patients with recurrence of pheochromocytoma involving the spine and the pelvis who were successfully treated with osteoplasty by cement augmentation. A 31-year-old female underwent cement augmentation for a pelvic lesion 6 months after the resection and screw fixation of an L3 lesion. A 58-year-old male underwent cement augmentation to directly destroy the functional tumor, with a surgical decompression 6 months later. Both patients showed appropriate destruction of the tumor, adequate pain relief, and the decreased release of catecholamine from metastatic lesions.Osteoplasty by cement augmentation may be a treatment option for patients with metastatic pheochromocytoma who cannot undergo appropriate surgery or decline surgery. This represents a safe approach to sustainably relieve pain and stabilize vertebral bodies with metastatic malignant pheochromocytoma.

Liu Q, Wang Y, Tong D, et al.
A Somatic HIF2α Mutation-Induced Multiple and Recurrent Pheochromocytoma/Paraganglioma with Polycythemia: Clinical Study with Literature Review.
Endocr Pathol. 2017; 28(1):75-82 [PubMed] Related Publications
A syndrome known as pheochromocytomas (PCC)/paragangliomas (PGL) and polycythemia resulted from gain-of-function mutation of hypoxia-inducible factor 2α (HIF2α) has been reported recently. However, clinical features of this syndrome vary from patient to patient. In our study, we described the clinical features of the patient within 15-year follow-up with a literature review. The patient presented with "red face" since childhood and was diagnosed with polycythemia and pheochromocytoma in 2000, and then, tumor was removed at his age of 27 (year 2000). However, 13 years later (2013), he was diagnosed with multiple paragangliomas. Moreover, 2 years later (2015), another two paragangaliomas were also confirmed. Genetic analysis of hereditary PCC/PGL-related genes was conducted. A somatic heterozygous missense mutation of HIF2α (c.1589C>T) was identified at exon 12, which is responsible for the elevated levels of HIF2α and erythropoietin (EPO) and subsequent development of paragangaliomas. However, this mutation was only found in the tumors from three different areas, not in the blood. So far, 13 cases of PCC/PGL with polycythemia have been reported. Among them, somatic mutations of HIF2α at exon 12 are responsible for 12 cases, and only 1 case was caused by germline mutation of HIF2α at exon 9. The HIF2α mutation-induced polycythemia with PCC/PGL is a rare syndrome with no treatment for cure. Comprehensive therapies for this disease include removal of the tumors and intermittent phlebotomies; administration of medications to control blood pressure and to prevent complications or death resulted from high concentration of red blood cell (RBC). Genetic test is strongly recommended for patients with early onset of polycythemia and multiple/recurrent PCC/PGL.

Janssen I, Wolf KI, Chui CH, et al.
Relevant Discordance Between 68Ga-DOTATATE and 68Ga-DOTANOC in SDHB-Related Metastatic Paraganglioma: Is Affinity to Somatostatin Receptor 2 the Key?
Clin Nucl Med. 2017; 42(3):211-213 [PubMed] Article available free on PMC after 01/03/2018 Related Publications
Pheochromocytomas/paragangliomas are somatostatin receptor 2-overexpressing tumors. Ga-DOTA-peptide imaging has recently shown excellent results in the detection of metastatic lesions in these tumors. However, currently used Ga-DOTA peptides show different somatostatin receptor affinities. Here, we report the remarkable differences in a patient who was imaged with Ga-DOTANOC and Ga-DOTATATE PET/CT within a 7-month period. The patient presented with a nearly negative Ga-DOTANOC PET/CT scan, whereas on Ga-DOTATATE PET/CT, multiple highly positive lesions were identified.

Soejima Y, Yoshizumi T, Ikegami T, et al.
Surgical Resection of Giant Pheochromocytomas Arising Behind the Retrohepatic Inferior Vena Cava.
Anticancer Res. 2017; 37(1):277-280 [PubMed] Related Publications
BACKGROUND: Surgical resection of retrocaval giant pheochromocytomas (PCs) and of extra-adrenal paragangliomas (EAPs) is a technically challenging procedure but data on these procedures are scarce. The purpose of this study was to present and evaluate our surgical results for such tumors.
PATIENTS AND METHODS: We retrospectively analyzed four consecutive patients who had surgery for giant retro-caval PCs and EAPs in terms of surgical technique, resectability of the tumor, requirement for bypass, and postoperative complications. A laparoscopic approach was not feasible in all cases because of the undesirable location of the tumors.
RESULTS: In all cases, the liver was completely mobilized from the right side to expose and control the supra- and infra-hepatic inferior vena cava. Resection of the tumors was feasible for all patients with a minimum titration of blood pressure during surgery. None of the cases required venous bypass. In the patient who had the largest tumor, the infra-hepatic inferior vena cava was transected temporally to obtain direct and maximum exposure of the tumor. None of the patients have had any postoperative complications and all are currently alive without recurrence and use of antihypertensive drugs.
CONCLUSION: Resection of retrocaval giant PCs and EAPs is a safe procedure. Temporal transection of the infra-hepatic inferior vena cava can offer excellent exposure, especially for an extremely large tumor, without compromising hepatic and systemic hemodynamics.

Avramovic N, Weckesser M, Velasco A, et al.
Long Distance Endovascular Growth of Jugulotympanic Paraganglioma Evident in 68Ga-DOTATATE PET but Concealed on CT.
Clin Nucl Med. 2017; 42(2):135-137 [PubMed] Related Publications
A 60-year-old woman was referred to contrast-enhanced CT for evaluation of jugular vein thrombosis incidentally detected by ultrasound. Contrast-enhanced CT showed an enhanced tumor of the right skull base highly suspicious of jugulotympanic paraganglioma. However, the jugular veins showed a nearly symmetric contrast enhancement without clear evidence of thrombosis. Consecutive Ga-DOTATATE PET/CT depicted high tumor uptake, which comprised the entire internal jugular vein. Endovascular growth of paraganglioma might be missed on contrast-enhanced CT because of high vascularization of the lesion. Ga-DOTATATE PET is suited for accurate determination of tumor extent.

Pęczkowska M, Cwikla J, Kidd M, et al.
The clinical utility of circulating neuroendocrine gene transcript analysis in well-differentiated paragangliomas and pheochromocytomas.
Eur J Endocrinol. 2017; 176(2):143-157 [PubMed] Related Publications
CONTEXT: Paragangliomas and pheochromocytomas (PPGLs) exhibit variable malignancy, which is difficult to determine by histopathology, amine measurements or tissue genetic analyses.
OBJECTIVE: To evaluate whether a 51-neuroendocrine gene blood analysis has clinical utility as a diagnostic and prognostic marker.
DESIGN: Prospective cohort study. Well-differentiated PPGLs (n = 32), metastatic (n = 4); SDHx mutation (n = 25); 12 biochemically active, Lanreotide treated (n = 4). Nine patients had multiple sampling. Age- and gender-matched controls and GEP-NETs (comparators).
METHODS: Circulating neuroendocrine tumor mRNA measured (qPCR) with multianalyte algorithmic analysis. Metabolic, epigenomic and proliferative genes as well as somatostatin receptor expression were assessed (averaged, normalized gene expression: mean ± s.e.m.). Amines were measured by HPLC and chromogranin A by ELISA. Analyses (2-tailed): Fisher's test, non-parametric (Mann-Whitney), receiver-operator curve (ROC) and multivariate analysis (MVA). All data are presented as mean ± s.e.m.
RESULTS: PPGL were NETest positive (100%). All exhibited higher scores than controls (55 ± 5% vs 8 ± 1%, P = 0.0001), similar to GEP-NETs (47 ± 5%). ROC analysis area under curve was 0.98 for differentiating PPGLs/controls (cut-off for normal: 26.7%). Mutation status was not directly linked to NETest. Genetic and molecular clustering was associated (P < 0.04) with NETest scores. Metastatic (80 ± 9%) and multicentric (64 ± 9%) disease had significantly (P < 0.04) higher scores than localized disease (43 ± 7%). Progressive disease (PD) had the highest scores (86 ± 2%) vs stable (SD, 41 ± 2%) (P < 0.0001). The area under the curve for PD from SD was 0.93 (cut-off for PD: 53%). Proliferation, epigenetic and somatostatin receptor gene expression was elevated (P < 0.03) in PD. Metabolic gene expression was decreased in SDHx mutations. Repeat NETest measurements defined clinical status in the 9 patients (6 SD and 3 PD). Amine measurement was non-informative. Multivariate analysis identified NETest >53% as an independent prognostic factor.
CONCLUSION: Circulating NET transcript analysis is positive (100% diagnostic) in well-differentiated PCC/PGL, scores were elevated in progressive disease irrespective of mutation or biochemical activity and elevated levels were prognostic.

Yeoh CJ, Ng SY, Goh BK
Pheochromocytoma Multisystem Crisis Triggered by Glucocorticoid Administration and Aggravated by Citrate Dialysis.
A A Case Rep. 2017; 8(3):58-60 [PubMed] Related Publications
Pheochromocytoma multisystem crisis is the most severe presentation of pheochromocytoma. We report on a 68-year-old survivor of pheochromocytoma multisystem crisis, whose clinical course was triggered inadvertently by a short innocuous course of oral dexamethasone to suppress inflammation and swelling after a left orbital floor fracture repair. He presented first with severe epigastric pain and headache, and subsequently experienced insults to neurological, cardiac, respiratory, hepatobiliary, renal, and immune system in his prolonged intensive care unit stay. We believe an episode of unexpected hypertensive crisis in the intensive care unit was set off iatrogenically during citrate protocol dialysis.

Yadav SK, Bothra S, Chekavar AS, et al.
A Rare Complication of Left Open Adrenalectomy.
Chirurgia (Bucur). 2016 Sept-Oct; 111(5):432-434 [PubMed] Related Publications
Chyle leakage after left open adrenalectomy is a quite rare complication. We encountered a young male patient who was operated for left adrenal pheochromocytoma, left laparoscopic adrenalectomy converted to open due to dense adhesions. Postoperatively patient developed chylous fluid drainage on day 2. He was managed conservatively with high protein and MCT oil diet. This case highlights the unusual complication of left adrenalectomy surgery and how it can be managed.

Imam T, Finny P, Choo-Kang A, Khan R
Phaeochromocytoma presenting as an acute coronary syndrome.
BMJ Case Rep. 2016; 2016 [PubMed] Related Publications
A 44-year-old Caucasian man presented to the emergency department in acute cardiogenic shock, with pulmonary oedema, secondary to an acute myocardial infarction and in a hyperosmolar hyperglycaemic state. The previous day he had undergone a colonoscopy, which revealed features of colitis, and was started on prednisolone. He had been previously diagnosed with type 2 diabetes, migraine and anxiety attacks. While awaiting a coronary angiogram he developed abdominal pain and a CT scan was performed and found a large right adrenal mass. Plasma-free metadrenaline levels were elevated. After 4 months, a right adrenalectomy was performed successfully. He made a good recovery with normalisation of his heart function and resolution of his diabetes. The diagnosis was delayed for years due to his episodic symptoms being attributed to other more common diagnoses. Although a rare diagnosis in itself, there are case reports of phaeochromocytoma initially presenting with an acute coronary syndrome.

van Zwet CJ, Rist A, Haeussler A, et al.
Extracorporeal Membrane Oxygenation for Treatment of Acute Inverted Takotsubo-Like Cardiomyopathy From Hemorrhagic Pheochromocytoma in Late Pregnancy.
A A Case Rep. 2016; 7(9):196-199 [PubMed] Related Publications
We describe the first case of a pregnant woman presenting with an acute inverted takotsubo-like cardiomyopathy caused by a postpartum diagnosed hemorrhagic pheochromocytoma, successfully treated with percutaneous venoarterial extracorporeal membrane oxygenation (va-ECMO). During admission, an emergency cesarean delivery had to be performed. The fetus needed resuscitation for 5 minutes. The mother was successfully resuscitated and treated with percutaneous va-ECMO for 7 days. Despite advances in diagnostic techniques during the past decade, in many cases, pheochromocytoma in pregnancy is still missed. This results in a maternal and fetal mortality rate of up to 30% in both.

Sedhai YR, Reddy K, Patel D, Lozada JA
Unusual case of pheochromocytoma presenting with diabetic ketoacidosis.
BMJ Case Rep. 2016; 2016 [PubMed] Related Publications
Pheochromocytoma is a rare catecholamine-secreting tumour that arises from chromaffin cells in the adrenal medulla or extra-adrenal sympathetic ganglia. It classically presents with paroxysmal headaches, hypertension, palpitations and sweating related to catecholamine excess. Diabetes is reported to be present in approximately one-third of patients with pheochromocytoma; however, diabetic ketoacidosis is an extremely rare complication. We present a case of an African-American male aged 30 years who initially presented with diabetic ketoacidosis and hypertensive urgency whose blood pressure and glycaemic control improved remarkably following tumour excision. We will discuss this unusual presentation of pheochromocytoma along with a management approach for such adrenal incidentalomas.

Kedia R, Hansen N, Goldner W
Nuclear Imaging in Metastatic Paraganglioma.
J Nucl Med Technol. 2016; 44(4):251-252 [PubMed] Related Publications
Paragangliomas associated with mutations of the SDHD gene can occasionally result in distant metastasis. Diagnosis can be difficult, and nuclear imaging is used to evaluate the case further. Not all tumors are alike; nuclear avidity may differ. We present a case in which metastatic paraganglioma caused by mutations of the SDHD gene was negative on (123)I-metaiodobenzylguanidine scintigraphy and positive on (111)In-labeled octreotide scintigraphy. This situation presents an opportunity for a novel therapeutic approach toward metastatic paraganglioma using targeted peptide receptor radionuclide therapy.

Belgioia L, Pupillo F, Bacigalupo A, Corvò R
Long-term survival in a patient with head and neck paraganglioma treated with tailored modalities for 20 years: a case report.
Tumori. 2016; 102(Suppl. 2) [PubMed] Related Publications
AIMS AND BACKGROUND: Primary paragangliomas of nasal cavity and paranasal sinus are rare conditions that could show aggressive behavior with local recurrence and metastasis development. The diagnosis of malignancy is challenging because there are no available histopathologic criteria. In these cases, the prognosis is usually poor.
METHODS: We report a case of a woman with malignant paranasal sinus paragangliomas.
RESULTS: The patient was treated with several surgical approaches, radiotherapy, and medical therapy for different recurrences.
CONCLUSIONS: Despite the malignant behavior of the disease, this patient is still alive many years after first diagnosis.

Hirai H, Midorikawa S, Suzuki S, et al.
Somatostatin-secreting Pheochromocytoma Mimicking Insulin-dependent Diabetes Mellitus.
Intern Med. 2016; 55(20):2985-2991 [PubMed] Article available free on PMC after 01/03/2018 Related Publications
We herein present the findings of a 42-year-old woman with either adrenal pheochromocytoma or intraadrenal paraganglioma that simultaneously secreted somatostatin, thus mimicking insulin-dependent diabetes mellitus. Pheochromocytoma was clinically diagnosed based on scintigraphy, elevated catecholamine levels, and finally a histopathological analysis of resected specimens. The patient had diabetic ketosis, requiring 40 U insulin for treatment. Following laparoscopic adrenalectomy, insulin therapy was discontinued and the urinary c-peptide levels changed from 5.5-9.0 to 81.3-87.0 μg/day. Histologically, somatostatin immunoreactivity was detected and the somatostatin levels were elevated in the serum-like fluid obtained from the tumor. Clinicians should be aware of the possible occurrence of simultaneous ectopic hormone secretion in patients with pheochromocytoma.

Nakamoto R, Nakamoto Y, Ishimori T, Togashi K
Clinical Significance of Quantitative 123I-MIBG SPECT/CT Analysis of Pheochromocytoma and Paraganglioma.
Clin Nucl Med. 2016; 41(11):e465-e472 [PubMed] Related Publications
PURPOSE: This retrospective study compared the diagnostic performances of quantitative versus visual analyses of I-MIBG scintigraphy in patients with suspected pheochromocytoma and paraganglioma (PPGL).
MATERIALS AND METHODS: SPECT images were obtained 6 and/or 24 h after MIBG injection from 68 patients with clinically suspected PPGL, with attenuation correction by low-dose unenhanced CT. Planar images were also obtained at each time point. SUVs of retroperitoneal tumors, including PPGLs, and physiological uptake by normal organs were measured using the SPECT images. The diagnostic performance of the quantitative assessment in differentiating PPGLs from other lesions or normal adrenal glands was assessed using receiver operating characteristic analysis. The planar scans and 6-h and 24-h SPECT/CT images were also assessed visually.
RESULTS: PPGLs showed a significantly higher SUVmax (mean ± SD = 9.97 ± 3.86) than other retroperitoneal lesions (3.85 ± 1.51) or normal adrenal glands (3.91 ± 1.20). At an optimal cut-off of 6.57, the sensitivity, specificity, and accuracy of the quantitative assessment for 6-h SPECT/CT in differentiating PPGLs was 78.6%, 96.3%, and 92.6%, respectively; the area under the curve was 0.878. The diagnostic performance did not significantly differ between the quantitative and visual analyses, but the specificity of the former tended to be higher at 6 h (96.3% vs. 90.7%) and at 24 h (91.2% vs. 82.4%).
CONCLUSIONS: The specificity, but not the sensitivity, of the quantitative approach was higher than that of visual assessment in differentiating PPGLs from other retroperitoneal pathologies and from physiological uptake in the normal adrenal gland.

Matsuda Y, Kimura N, Yoshimoto T, et al.
Dopamine-Secreting Paraganglioma in the Retroperitoneum.
Endocr Pathol. 2017; 28(1):36-40 [PubMed] Related Publications
Pheochromocytomas and paragangliomas, which exclusively produce dopamine, are very rare. Herein, we report for the first time a Japanese case of an exclusively dopamine-producing paraganglioma accompanied by detailed immunohistochemical analyses. A 70-year-old Japanese woman was referred to our hospital for functional examination of her left retroperitoneal mass. Her adrenal functions were normal, except for excessive dopamine secretion. After the tumorectomy, her dopamine level normalized. The histopathological diagnosis of the tumor was paraganglioma; this was confirmed by positive immunostaining of chromogranin A (CgA), tyrosine hydroxylase (TH), dopamine β-hydroxylase (DBH), and succinate dehydrogenase gene subunit B (SDHB). However, the immunostaining of CgA in the tumor cells showed peculiar dot-like staining located corresponding to Golgi complex in the perinuclear area, rather than the diffuse cytoplasmic staining usually observed in epinephrine- or norepinephrine-producing functional pheochromocytomas and paragangliomas. The immunohistochemical results suggested that the tumor cells had sparse neuroendocrine granules in the cytoplasm, resulting in inhibition of catecholamine synthesis from dopamine to norepinephrine in neurosecretory granules. This may be the mechanism responsible for exclusive dopamine secretion in the present case.

Powers JF, Pacak K, Tischler AS
Pathology of Human Pheochromocytoma and Paraganglioma Xenografts in NSG Mice.
Endocr Pathol. 2017; 28(1):2-6 [PubMed] Free Access to Full Article Related Publications
A major impediment to the development of effective treatments for metastatic or unresectable pheochromocytomas and paragangliomas has been the absence of valid models for pre-clinical testing. Attempts to establish cell lines or xenografts from human pheochromocytomas and paragangliomas have previously been unsuccessful. NOD-scid gamma (NSG) mice are a recently developed strain lacking functional B-cells, T-cells, and NK cells. We report here that xenografts of primary human paragangliomas will take in NSG mice while maintaining their architectural and immunophenotypic characteristics as expressed in the patients. In contrast to grafts of cell lines and of most common types of primary tumors, the growth rate of grafted paragangliomas is very slow, accurately representing the growth rate of most pheochromocytomas and paragangliomas even in metastases in humans. Although the model is therefore technically challenging, primary patient-derived xenografts of paragangliomas in NSG mice provide a potentially valuable new tool that could prove especially valuable for testing treatments aimed at eradicating the small tumor deposits that are often numerous in patients with metastatic paraganglioma.

Yamasaki M, Sato Y, Nomura T, et al.
Composite paraganglioma-ganglioneuroma concomitant with adrenal metastasis of medullary thyroid carcinoma in a patient with multiple endocrine neoplasia type 2B: A case report.
Asian J Endosc Surg. 2017; 10(1):66-69 [PubMed] Related Publications
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal-dominant cancer syndrome with major components of medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism. MEN2B is the most aggressive and rarest of the MEN2 variants. Pheochromocytoma in MEN2 is virtually always located in the adrenal medulla, but MEN2-associated extra-adrenal pheochromocytomas (paraganglioma) are rare. A 59-year-old man who has been diagnosed with MEN2B consulted our hospital for surgical treatment of a 10-mm left adrenal mass and a 30-mm retroperitoneal mass. He had paroxysmal elevations in blood pressure and in urinary metanephrine and vanillylmandelic acid values. Laparoscopic excision of the left adrenal gland and retroperitoneal mass was performed. We experienced an extremely rare case of composite paraganglioma-ganglioneuroma concomitant with adrenal metastasis of medullary thyroid carcinoma in a patient with MEN2B.

Muriana P, Bandiera A, Ciriaco P, et al.
A case of endobronchial paraganglioma.
Ann R Coll Surg Engl. 2017; 99(1):e28-e30 [PubMed] Related Publications
Paragangliomas are rare lung tumours; endobronchial localisation is even more rare. This report describes the case of a 59-year-old patient with a symptomatic endobronchial paraganglioma successfully resected by means of pulmonary lobectomy. Recognition of this uncommon tumour can lead to a correct diagnosis and therapeutic strategy.

Daniel E, Jones R, Bull M, Newell-Price J
Rapid-sequence MRI for long-term surveillance for paraganglioma and phaeochromocytoma in patients with succinate dehydrogenase mutations.
Eur J Endocrinol. 2016; 175(6):561-570 [PubMed] Related Publications
BACKGROUND: Patients with SDHx mutations need long-term radiological surveillance for the development of paragangliomas and phaeochromocytomas, but no longitudinal data exist. The aim of the study was to assess the performance of rapid-sequence non-contrast magnetic resonance imaging (MRI) in the long-term monitoring of patients with SDHx mutations.
METHODS: Retrospective study between 2005 and 2015 at a University Hospital and regional endocrine genetics referral centre. Clinical and imaging data of 47 patients with SDHx mutations (SDHB (36), SDHC (6) and SDHD (5)) who had surveillance for detection of paragangliomas by rapid-sequence non-contrast MRI (base of skull to pubic symphysis) were collected.
RESULTS: Twelve index cases (nine SDHB, one SDHC and two SDHD) and 35 mutation-positive relatives were monitored for a mean of 6.4 years (range 3.1-10.0 years). Mean age at the end of the study: SDHB 46.9 ± 17.6 years; SDHC 42.3 ± 24.4 years; SDHD 54.9 ± 10.6 years. On excluding imaging at initial diagnosis of index cases, 42 patients underwent 116 rapid-sequence MRI scans: 83 scans were negative and 31 scans were positive for sPGL/HNPGL in 13 patients. Most patients had multiple scans (n = number of patients (number of rapid-sequence MRI scans during screening)): n = 9 (2), n = 20 (3), n = 6 (4), n = 1 (6). Nine patients (three index) were diagnosed with new paragangliomas during surveillance and non-operated tumour size was monitored in nine patients. There were two false-positive scans (1.6%). Scans were repeated every 27 ± 9 months.
CONCLUSIONS: Biannual rapid-sequence non-contrast MRI is effective to monitor patients with SDHx mutations for detection of new tumours and monitoring of known tumours.

Chiang YL, Chen PC, Lee CC, Chua SK
Adrenal pheochromocytoma presenting with Takotsubo-pattern cardiomyopathy and acute heart failure: A case report and literature review.
Medicine (Baltimore). 2016; 95(36):e4846 [PubMed] Free Access to Full Article Related Publications
BACKGROUND: Pheochromocytoma is an endocrine tumor that causes hypertension, facial pallor, and headache. Pheochromocytoma patients rarely present with acute heart failure or cardiogenic shock.
METHOD: We discuss the case of a female patient with Takotsubo-pattern cardiomyopathy who presented with acute heart failure caused by pheochromocytoma.
RESULT: Treatment was adjusted based on the data of the pulse contour cardiac output system. After intensive hydration and medication for heart failure, the condition of the patient stabilized.
CONCLUSION: Before confirming the diagnosis, pulse contour cardiac output data could provide a direction for diagnosis and treatment.

Pandit R, Khadilkar K, Sarathi V, et al.
Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.
Eur J Endocrinol. 2016; 175(4):311-23 [PubMed] Related Publications
BACKGROUND: Genetic aetiology of pheochromocytoma (PCC) and paraganglioma (PGL) is increasingly being studied; however, Asian Indian data on this aspect are scarce.
OBJECTIVE: To study the prevalence of germline mutations and genotype-phenotype correlation in Asian Indian PCC/PGL patients.
DESIGN: In this study, 150 index patients (M:F, 73:77) with PCC/PGL were evaluated. Phenotypic data were collected. Germline mutations in five susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) were tested by sequencing and NF1 was diagnosed according to phenotype.
RESULT: Of the total population, 49 (32.7%) PCC/PGL patients had germline mutations (VHL: 23 (15.3%), RET: 13 (8.7%), SDHB: 9 (6%), SDHD: 2 (1.3%) and NF1: 2 (1.3%)). Amongst the 30 patients with familial and/or syndromic presentation, all had germline mutations (VHL: 14 (46.7%), RET: 13 (43.3%), SDHB: 1 (3.3%) and NF1: 2 (6.7%)). Out of 120 patients with apparently sporadic presentation, 19 (15.8%) had a germline mutation (VHL: 9 (7.5%), SDHB: 8 (6.7%) and SDHD: 2 (1.7%)). Mutation carriers were younger (29.9 ± 14.5 years vs 36.8 ± 14.9; P = 0.01) and had a higher prevalence of bilateral PCC (26.5% vs 2.9%, P < 0.001) and multifocal tumours (12.2% vs 0.96%, P = 0.06). Based on syndromic features, metastasis, location and number of tumours, around 96% mutations in our cohort could be detected by appropriately selected single gene testing.
CONCLUSION: Asian Indians with PCC/PGL differ from Western cohorts in having preponderance of VHL mutations in multifocal tumours and apparently sporadic unilateral PCC. Syndromic presentation, metastasis, location and number of PCC/PGL can be effectively used for guiding genetic prioritisation.

Chang CA, Pattison DA, Tothill RW, et al.
(68)Ga-DOTATATE and (18)F-FDG PET/CT in Paraganglioma and Pheochromocytoma: utility, patterns and heterogeneity.
Cancer Imaging. 2016; 16(1):22 [PubMed] Free Access to Full Article Related Publications
BACKGROUND: Pheochromocytomas (PCC) and paragangliomas (PGL) are neuroendocrine tumours arising from pluripotent neural crest stem cells and are associated with neurons of the autonomic nervous system. PCCs/PGLs are often hereditary and multifocal, and their biologic behaviour and metabolic activity vary making imaging of these tumours challenging. The imaging gold standard has been I-123 MIBG complemented by CT or MRI. PGLs being neuroendocrine tumours express somatostatin receptors enabling imaging with Ga-68 DOTA-coupled peptides such as DOTATATE. Imaging with F-18 FDG also provides additional information regarding metabolic activity and biologic aggressiveness of these tumours, or, in some situations, reflecting metabolic reprogramming of these tumours. We report our experience using both Ga-68 DOTATATE and F-18 FDG PET/CT imaging in patients with PGLs and PCCs.
METHODS: This was a retrospective review of 23 patients with proven PGL/PCC who underwent both DOTATATE and FDG PET/CT. Seven patients also had I-123 MIBG SPECT/CT and 1 patient had I-124 MIBG PET/CT. Lesional intensity and patterns of uptake were analysed.
RESULTS: DOTATATE and FDG were positive at most sites of disease (96.2 % vs 91.4 %), although uptake intensity was significantly higher on DOTATATE with a median SUV of 21 compared to 12.5 for FDG (p < 0.001). SUVmax on F-18 FDG was significantly higher (p < 0.001) in clinically aggressive cases. I-123/I-124 MIBG detected fewer lesions (30.4 %).
CONCLUSION: Overall, Ga-68 DOTATATE PET/CT detected similar number but has significantly greater lesion-to-background contrast compared to F-18 FDG PET/CT. Combined with high specificity, patient convenience and relatively low cost, DOTATATE PET/CT should be considered the ideal first line investigation for imaging PGL/PCC. Depending on DOTATATE findings and the clinical question, FDG and MIBG remain useful and, in selected cases, may provide more accurate staging, disease characterisation and guide treatment choices.

Sousa NV, Marques de Oliveira LC, Cortez PJ, et al.
A rare case of Ganglioneuroblastoma Encapsulated in Pheochromocytoma.
Acta Medica (Hradec Kralove). 2016; 59(2):67-9 [PubMed] Related Publications
Pheochromocytoma and Ganglioneuroblastoma are separate diseases and a rare combination in which the diagnosis can only be confirmed by pathological examination after tumor excision. We reported here a case of ganglioneuroblastoma encapsulated in pheochromocytoma. The patient is a woman, 73 years old, hypertensive, with hypothyroidism, associated for 15 years with hypercholesterolemia and hypertriglyceridemia, which had frequent complaints of low back pain. She underwent magnetic resonance and the findings were consistent with the diagnosis of pheochromocytoma. After surgery, anatomic, pathologic and immunohistochemistry analysis confirmed the diagnosis of pheochromocytoma composed by small ganglioneuroblastoma representation with the identification of small focus of infiltration of the adrenal capsule and adipose tissue by pheochromocytoma. This rare association can instigate the discussion of methods of diagnosis, more effective and more appropriate treatments for each patient.

Marić P, Milović N, Bancević V, et al.
Pheochromocytoma of the urinary bladder--A case report.
Vojnosanit Pregl. 2016; 73(6):584-7 [PubMed] Related Publications
INTRODUCTION: Pheochromocytoma of the urinary bladder is a rare tumor and presents less than 0.06% of all urinary bladder tumors.
CASE REPORT: We presented a 49-year-old female patient with a history of daily paroxysmal hypertension accompanied with flushing of the face and upper chest, palpitations and excessive sweating prior to micturition. Ultrasonography reported a 3 cm bladder wall tumor. The 131I-metaiodobenzylguanidine (131I-MIBG) scan showed a pathological isotope accumulation in the projection of the bladder. The patient underwent a partial cystectomy. One year following the operation the patient was normotensive and without recurrence.
CONCLUSION: The most efficient treatment option for bladder pheochromocytoma is surgical resection. The most important fact in the diagnostics is suspicion on this rare condition.

El-Rabadi K, Weber M, Mayerhofer M, et al.
Clinical Value of 18F-fluorodihydroxyphenylalanine Positron Emission Tomography/Contrast-enhanced Computed Tomography (18F-DOPA PET/CT) in Patients with Suspected Paraganglioma.
Anticancer Res. 2016; 36(8):4187-93 [PubMed] Related Publications
AIM: To evaluate (18)F-fluorodihydroxyphenylalanine-positron emission tomography/ contrast-enhanced computed tomography ((18)F-DOPA PET/CT) for the detection of paragangliomas (PARA) without any patient selection, such as genetic predisposition for the development of these tumors, history of metastatic PARA or hormonal status.
PATIENTS AND METHODS: In this retrospective study, 28 consecutive patients (15 women, 13 men; mean age=46.4 years; age range=19-73 years), who were referred to our PET/CT center for the detection of clinically suspected PARA, were included. Final diagnosis was confirmed by histological reports of surgically proven lesions and/or clinical follow-up (including laboratory results and/or PET/CT follow-up).
RESULTS: On a per-lesion basis (45 lesions) analysis, there was a sensitivity of 64.3% for CT, 73.8% for PET, 100% for PET/CT and a positive predictive value (PPV) of 93.1% for CT, 96.9% for PET and 100% for PET/CT. On a per-patient basis analysis, the sensitivity, specificity and accuracy for CT was 86.7%, 84.6% and 85.7%, respectively, and, for PET 80%, 100% and 89.3%, respectively, and, for PET/CT 100%.
CONCLUSION: Based on our data, (18)F-DOPA PET/CT is a "one-stop diagnostic modality" for the assessment of patients with suspected PARA.

Adesiyun OA, Adeoye PO, Ofoegbu CK, Afolayan EA
Neck trauma: a red-herring to diagnosis of chemodectoma.
Afr J Med Med Sci. 2015; 44(4):361-4 [PubMed] Related Publications
Chemodectoma, a neuroendocrine tumour of the paraganglionic cells in the carotid body remains an uncommon tumour. We report the first case from University of Ilorin Teaching Hospital, Ilorin, Nigeria. Though with a red herring history of trauma induced swelling, clinical and radiologic features were characteristic of chemodectoma. Histologic features of the excised lesion are presented.

Meseeha MG, Sattur S
Acute systolic heart failure and uncontrolled hypertension: what is the missing link?
Postgrad Med. 2016; 128(7):722-4 [PubMed] Related Publications
Pheochromocytoma is a rare tumor in adults, with an estimated annual incidence of 0.8 per 100,000 persons. Cardiomyopathy is an uncommon presentation of such a rare disease. Serious cardiovascular complications of these tumors are related to potent effects of secreted catecholamines. The mechanism of pheochromocytoma-related cardiomyopathy is not well understood but it is likely due to the effect of excess catecholamines and their oxidation products which have been found to have a direct toxic effect on the myocardium. We describe below a case of a 70-year old female with uncontrolled hypertension and new onset acute systolic heart failure, who on further evaluation was noted to have pheochromocytoma-related cardiomyopathy. Pheochromocytoma should be strongly considered in the differential diagnosis of non-ischemic cardiomyopathy for a patient with elevated blood pressures relative to severity of cardiac dysfunction.

Képénékian L, Mognetti T, Lifante JC, et al.
Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1.
Eur J Endocrinol. 2016; 175(4):335-44 [PubMed] Related Publications
OBJECTIVE: Pheochromocytoma (PHEO) may occur in 0.1-5.7% of patients presenting with a neurofibromatosis type 1 (NF1). Current recommendations are to explore only symptomatic patients. The objective of the study is to evaluate the prevalence and the interest of a systematic PHEO screening in this population.
DESIGN: A prospective study in a French tertiary center including consecutive NF1 patients older than 18 years.
METHODS: A systematic screening combining abdominal imaging and urinary fractionated metanephrines was proposed. In case of positivity of one or both exams, (123)I-metaiodobenzylguanidine scintigraphy or [(18)F]-fluoro-dihydroxyphenylalanine PET imaging was performed. The diagnosis of secreting PHEO was retained in case of elevated urinary metanephrines associated with positive scintigraphy and non-secreting PHEO when urinary metanephrines were normal with a positive scintigraphy.
RESULTS: Between January 2014 and August 2015, 234 patients were included and 156 patients (66.7%) completed both exams. In these 156 patients, 12 PHEOs were diagnosed, representing a prevalence of 7.7%. Of these, six PHEOs were secreting, with only two symptomatic patients. The tumor size of these PHEOs were bigger than that of non-secreting PHEO (25.2 ± 6.6 vs 14 ± 6.9 mm, P = 0.0165). One lesion was bilateral. Mean metanephrine and normetanephrine levels were 3.2 ± 2.6N and 2.8 ± 1N respectively. Three patients underwent surgery. The six patients with non-secreting PHEO were asymptomatic. One of them had bilateral lesion and one underwent surgery.
CONCLUSIONS: PHEO in NF1, whether or not secreting, are mostly asymptomatic. The current strategy to explore only symptomatic patients leads to an underestimation of prevalence with the risks inherent to the existence of an unrecognized PHEO.

Sundahl N, Van Slycke S, Brusselaers N
A rare case of clinically and biochemically silent giant right pheochromocytoma: case report and review of literature.
Acta Chir Belg. 2016; 116(4):239-242 [PubMed] Related Publications
Non-secreting pheochromocytomas are rare adrenal tumours. We report the case of a clinically and biochemically silent giant pheochromocytoma that presented as bilateral pulmonary embolisms. Successful surgical resection was performed. Multiple endocrine neoplasia 2 syndrome and neurofibromatosis type 1 were clinically excluded. Subsequent DNA analysis of the succinate dehydrogenase complex subunits B and D (SDHB and SDHD), and Von Hippel-Lindau (VHL) genes revealed no mutations.

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