Unusual clinical manifestation of pheochromocytoma in a MEN2A patient (original) (raw)
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Pheochromocytoma in multiple endocrine neoplasia type 2: a prospective study
European Journal of Endocrinology, 2001
Objective: The aim of this prospective study is to update our knowledge of the chronology of pheochromocytoma occurrence in multiple endocrine neoplasia type 2 (MEN 2), and to better manage MEN 2 patients after the genetic diagnosis. Design: Eighty-seven non-index gene carrier MEN 2 patients were included in this prospective study: 84 patients with MEN 2A (from 52 families) and 3 with MEN 2B (from 3 families). Methods: Medullary thyroid carcinoma (MTC) was diagnosed by measuring plasma calcitonin in basal conditions or after pentagastrin stimulation. The search for pheochromocytoma consisted of clinical evaluation, 24 h determination of urinary catecholamines and adrenal imaging. The mean age at genetic diagnosis of MEN 2 was 14X0^7X0 years, the mean duration for the follow-up was 7X6^2X8 years. Results: All 87 patients had a MTC detected at the same time as the genetic diagnosis was made. Urinary catecholamine measurements led to the diagnosis of pheochromocytoma and a combination of imaging techniques enabled the correct localization of both unilateral or bilateral adrenal involvement. Pheochromocytoma was detected simultaneously with MTC in only seven patients, and seven others were detected throughout the follow-up. Of the 14 patients with pheochromocytoma, 11 had bilateral involvement: nine were initially bilateral and two became so during follow-up. Conclusion: This study demonstrates that in MEN 2, MTC is the lesion which appears earliest. Pheochromocytoma develops later during the evolution of the disease, and necessitates regular clinical and biological monitoring throughout follow-up. Determination of urinary and/or plasma catecholamines and metanephrines should be performed to detect pheochromocytoma. Imaging techniques lead to the detection of both unilateral and bilateral pheochromocytoma, thus making video-assisted laparoscopic adrenalectomy possible.
Metastatic pheochromocytoma in MEN 2A: A rare association
BMJ case reports, 2018
A 45-year-old woman was diagnosed as having multiple endocrine neoplasia type 2A in 2014. She had bilateral pheochromocytoma, medullary thyroid carcinoma and biopsy-proven cutaneous lichen amyloidosis in the interscapular area. She underwent bilateral adrenalectomy; following which, she achieved clinical and biochemical remission. She was planned for total thyroidectomy at a later date; however, she was lost to follow-up. She presented to us again in December 2016 with abdominal pain. Examination revealed hypertension with postural drop. Positron emission tomography scan showed Gaand fluorodeoxyglucose (FDG)-avid suprarenal, hepatic, peritoneal and mesenteric masses with abdominal lymph nodes. Twenty-four-hour urinary metanephrines/normetanephrines were elevated. Serum calcitonin was as high as it was 2-1/2 years ago. Ultrasonography-guided fine-needle aspiration cytology (FNAC) from the liver mass revealed neuroendocrine cells that did not stain for calcitonin. Hence, a diagnosis o...
Pheochromocytoma in Multiple Endocrine Neoplasia Type 2A
Clinical Nuclear Medicine, 2012
An 123 I metaiodobenzylguanidine (MIBG) planar image showed abnormal uptake in the left adrenal gland and thyroid in a 24-year-old woman with multiple endocrine neoplasia type 2A. 131 I MIBG showed abnormal uptake in the thyroid but not in the adrenal gland. Abdominal CT with 2-mm thin slices demonstrated a normal adrenal gland. Postoperative pathologic findings were consistent with medullary carcinoma in both thyroid lobes and a small 1-mm pheochromocytoma in the left adrenal gland. 123 I MIBG could clearly show the small pheochromocytoma, which was negative in thin-slice CT and equivocal in 131 I MIBG.
Phaeochromocytoma in multiple endocrine neoplasia type 2 A: survey of 100 cases
Clinical Endocrinology, 1993
SummaryOBJECTIVE We report clinical, biochemical, morphological and histological data of phaeochromocytoma in 40 French families and in apparently sporadic cases of multiple endocrine neoplasia (MEN) type 2 A (medullary thyroid carcinoma, phaeochromocytoma, with or without hyperparathyroidism).DESIGN This retrospective study was obtained from cases registered by the‘Groupe d'Etudes des Tumeurs a Calcitonine’ from 1968 to 1990. We analysed the cases having sufficiently precise data on phaeochromocytoma with Pigas Software.PATIENTS Characteristics of phaeochromocytoma In 100 patients with MEN 2 A were reviewed. Phaeochromocytoma was bilateral in 51 %. The disease was inherited in 94 patients from 40 families (40 probands, 54 relatives), and was apparently sporadic In six.RESULTS In this series, diagnostic circumstances were highly suggestive of phaeochromocytoma in 39.8% of the cases, whereas in 43.2%, diagnosis was made through systematic investigations of patients, either before...
Indian Journal of Endocrinology and Metabolism, 2013
The aim of this study was to describe a young man with probably the largest pheochromocytoma associated with MEN 2A, described till date. The patient, a non-vegetarian, fi fth of eight siblings, married, having fi ve children, presented with episodes of diffi cult-to-control hypertension requiring over fi ve antihypertensives. He was referred to us with an abdominal CT scan that revealed a 16 cm left-sided adrenal mass. Biochemical testing confi rmed a catecholamine secreting pathology. Histopathology confi rmed the mass as a pheochromocytoma weighing 1.8 kg. Further evaluation suggested a parathormone-dependent hypercalcemia and a left-sided thyroid mass. Histopathology confi rmed parathyroid hyperplasia and medullary carcinoma of the thyroid mixed with papillary carcinoma of thyroid. Putting all the fi ndings together showed that the patient was suffering from multiple endocrine neoplasia 2. Multiple endocrine neoplasia 2A is a rare syndrome. The case is unique in the way it presented, with all the three tumors at the same time. The management was bold and addressed all the three lesions in the same hospital admission. We are also reporting the largest described case of pheochromocytoma from India.
Pheochromocytoma in MEN 2A Syndrome. Study of 54 Patients
World Journal of Surgery, 2008
Background Pheochromocytoma occurs in nearly 50% of MEN 2A (multiple endocrine neoplasia, type 2A) cases. Many issues related to this tumor are still the subject of debate: the diagnostic management in patients who have had positive genetic study results (RET mutation), variations related to mutation, the best surgical option, and the real relapse rate during long-term follow-up. The aim of this study is to present our experience with this unusual disease, looking for answers to some of these questions. Patients and methods Of 169 patients belonging to 19 MEN 2A families, 54 (32%) presented with pheochromocytoma. The following variables have been studied: (1) clinical and diagnostic data [age, mutation, clinical features, results of catecholamines and catabolites in a 24-h urine sample, computerized tomography (CT) scan and iodine-131 metaiodobenzylguanidine (MIBG) scintigraphy results, and the means of diagnostic, clinical, or genetic screening]; (2) surgical treatment; and (3) follow-up and recurrence. The mean follow-up time was 92.5 months (range: 12-120 months). Results The mean age of the 54 patients was 37.9 years (range: 14-71 years); 33 were women. Most (96.3%) mutations were found in exon 11. The most frequent mutations were Cys634Tyr (in 33 cases [61.1%]) and Cys634Arg (in 14 [25.9%]). The diagnosis of pheocromocytoma was made after the diagnosis of MTC in 26 cases (48.2%), simultaneously in 21 (38.9%), and prior in the 7 remaining cases (12.9%). At the time of diagnosis 28 patients (51.8%) were asymptomatic and 26 (48.2%) had clinical features related to pheochromocytoma. In 6 patients (11.1%), the values of catecholamines and catabolites in urine were normal. In the cases with high values, the most useful isolated determination was that of metanephrines (82%), followed by adrenaline (76%). The CT scan did not provide a correct diagnosis in 6 patients with bilateral lesions, and one patient with a bilateral tumor was not diagnosed by MIBG. The combination of CT scan and MIBG diagnosed 100% of cases. The pheochromocytoma was bilateral in 27 cases, with a total number of 81 pathological glands detected. A laparascopic approach was used in 30 cases and a laparotomy in 24. The mean tumor size was 4.5 cm (range: 1-18 cm). Five patients with unilateral resection relapsed (18.5%), and the mean relapse time was 43.2 months (range: 12-120 months). There was a greater frequency of pheochromocytoma in those subjects who had the Cys634Arg mutation (p \ 0.03). In addition, the Cys634Arg mutation is more frequent in bilateral cases. There are no prognostic factors for recurrence. Conclusions Pheochromocytoma in MEN 2A is related to the type of mutation, which can be early onset and is frequently asymptomatic. Its diagnosis requires catecholamines determinations as well as a CT scan. Correct diagnosis of bilaterality is established by CT and MIBG. Laparoscopic adrenalectomy is the treatment of choice.
Bilateral Pheochromocytomas in MEN2A Syndrome: A Two-Institution Experience
World journal of surgery, 2015
Bilateral pheochromocytoma (PHEO) is more frequently found in patients with multiple endocrine neoplasia 2A carrying a RET germline mutation located in codon 634 (C634). However, it is unclear whether different amino acid substitutions within C634 cause differences in bilateral PHEOs expression. We aimed to answer this by pooling data from two Asian institutions. Sixty-seven patients had confirmed C634 germline mutation. Age-dependent penetrance of bilateral PHEO was calculated from date of birth to the date when bilateral PHEO was first diagnosed or when the contralateral gland became a PHEO (if the patient already had one adrenal gland removed). Age-dependent penetrance was estimated by the Kaplan-Meier method and compared by log-rank test. The 4 different amino acid substitutions included C634R (arginine) (n = 19, 28.4 %), C634Y (tyrosine) (n = 36, 38.8 %), C634G (glycine) (n = 4, 6.0 %), and C634W (tryptophan) (n = 8, 11.9 %). The age-related penetrance of PHEO was similar betwe...
Journal of Internal Medicine, 2005
Pacak K, Ilias I, Adams KT, Eisenhofer G (National Institutes of Health, Bethesda, MD, USA; and University of Patras, Rion-Patras, Greece). Biochemical diagnosis, localization and management of pheochromocytoma: focus on multiple endocrine neoplasia type 2 in relation to other hereditary syndromes and sporadic forms of the tumour (Minisymposium). J Intern Med 2005; 257: 60-68.