Phaeochromocytoma in multiple endocrine neoplasia type 2 A: survey of 100 cases

Casanova, S.; Rosenberg-Bourgin, Myriam; Farkast, D.; Calmettes, C; Feingold, N; Heshmatl, H. M.; Cohen, R.; Conte-Devolx, B.; Guillausseau, P. J.; Houdent, C; Bigorgne, J. C.; Boiteau, Véronique; Caron, J.; Modigliani, E

doi:10.1111/j.1365-2265.1993.tb00350.x

Cited by 90 publications

(51 citation statements)

References 22 publications

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“…It is commonly accepted that w50% of patients with MEN2 develop pheochromocytoma (PHEO) during their lifetime (2,3). Before the development of genetic screening, diagnosis of MEN2 was mainly clinical.…”

Section: Introductionmentioning

confidence: 99%

High penetrance of pheochromocytoma in multiple endocrine neoplasia 2 caused by germ line RET codon 634 mutation in Japanese patients

Imai

Uchino

Okamoto

et al. 2013

European Journal of Endocrinology

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Objective: The precise penetrance of pheochromocytoma (PHEO) in multiple endocrine neoplasia type 2 (MEN2) has not been reported in a large cohort. In this study, we aimed to clarify the codon-specific penetrance of PHEO in MEN2. Design: We established a study group designated the 'MEN Consortium of Japan' in 2008 and asked physicians and surgeons to provide clinical and genetic information on patients they had treated up to 2011. Methods: Data were collected on patients identified as carriers of the RET mutation or diagnosed with medullary thyroid carcinoma (MTC) and/or PHEO with family history from 52 institutions all over Japan. Results: Of 493 registered MEN2 patients, RET mutation data were available for 390. Of these, 144 developed PHEOs, while 246 did not. The penetrance of PHEO was 25% by age 30 years, 52% by age 50 years, and 88% by age 77 years in RET mutation carriers with a codon 634 mutation. All patients with a codon 918 mutation (MEN2B) developed PHEO by age 56 years. Less than 32% penetrance of PHEO was seen in patients with mutations at codons other than 634 and 918. Conclusions: Most patients with a codon 634 mutation develop PHEOs as well as MTC during their lifetime.

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Section: Introductionmentioning

confidence: 99%

High penetrance of pheochromocytoma in multiple endocrine neoplasia 2 caused by germ line RET codon 634 mutation in Japanese patients

Imai

Uchino

Okamoto

et al. 2013

European Journal of Endocrinology

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“…In contrast to sporadic pheochromocytoma, the adrenomedullary disease in patients with MEN-2 is commonly multicentric and bilateral. Similar to the incidence in non-MEN-2 patients, malignant pheochromocytoma is observed in less than 10% of cases (45,46).…”

Section: Pathologymentioning

confidence: 51%

“…Adrenomedullary disease is screened by annual measurement of urinary metanephrines and fractionated catecholamines (epinephrine, norepinephrine, dopamine), after the age of 6 years (45,54,60,62). Patients with MEN-2 tend to have a higher epinephrine : norepinephrine ratio.…”

Section: Biochemical Testingmentioning

confidence: 99%

Multiple endocrine neoplasia type 2: recent progress in diagnosis and management

Heshmati

Hofbauer

1997

European Journal of Endocrinology

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“…It is estimated that 30-50% of people affected by this syndrome have pheochromocytoma that is usually bilateral or multifocal [11,12]. Meanwhile, pheochromocytoma as a first manifestation of MEN 2A occurs in 9-27% of cases [11,13]. Mutation in codon 634 particularly predisposes to this tumour [11,14].…”

Section: Discussionmentioning

confidence: 99%

Przełom katecholaminowy jako pierwsza manifestacja rodzinnego obustronnego guza chromochłonnego w przebiegu mutacji protoonkogenu RET w kodonie C 634R

Zwolak

Rudzki

Dudzińska

et al. 2015

Endokrynologia Polska

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Introduction: Multiple endocrine neoplasia type 2 (MEN 2) is a genetic disorder caused by mutation in the RET proto-oncogene. MEN 2A includes medullary carcinoma of the thyroid, pheochromocytoma, and primary hyperparathyroidism. The authors present a case study of three family members with bilateral pheochromocytoma in the course of MEN 2A, a catecholamine crisis being the first manifestation of the syndrome in one of them. Case 1: A 30-year-old man without a history of hypertension or any other chronic medical problems was admitted to the Emergency Department because of a hypertensive crisis that was followed by cardiac arrest. A later diagnosis revealed bilateral pheochromocytoma and RET proto-oncogene mutation in codon 634. The patient underwent bilateral adrenalectomy and total thyroidectomy; the latter confirmed the presence of medullary carcinoma. Case 2: The patient underwent right adrenalectomy with the removal of a pheochromocytoma at the age of sixteen. Ten years later, a suspicion of pheochromocytoma in the remaining left adrenal was raised. Mutation in the RET proto-oncogene was confirmed as well. The patient first underwent left adrenalectomy and then she had total thyroidectomy. Postoperative histopathological examinations revealed pheochromocytoma and medullary carcinoma. Case 3: Radiological and biochemical examination confirmed pheochromocytoma. Therefore, the two adrenals were removed. As mutation in codon 634 was detected, the patient underwent total thyroidectomy as well. The presence of medullary carcinoma was confirmed.

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Phaeochromocytoma in multiple endocrine neoplasia type 2 A: survey of 100 cases

Cited by 90 publications

References 22 publications

High penetrance of pheochromocytoma in multiple endocrine neoplasia 2 caused by germ line RET codon 634 mutation in Japanese patients

High penetrance of pheochromocytoma in multiple endocrine neoplasia 2 caused by germ line RET codon 634 mutation in Japanese patients

Multiple endocrine neoplasia type 2: recent progress in diagnosis and management

Przełom katecholaminowy jako pierwsza manifestacja rodzinnego obustronnego guza chromochłonnego w przebiegu mutacji protoonkogenu RET w kodonie C 634R

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