A RET mutation with decreased penetrance in the family of a patient with a "sporadic" pheochromocytoma

Seth M. Arum; Patricia L.M. Dahia; Katherine Schneider; Lewis E. Braverman

doi:10.1385/ENDO:28:2:193

A RET mutation with decreased penetrance in the family of a patient with a "sporadic" pheochromocytoma

Seth M. Arum, Patricia L.M. Dahia, Katherine Schneider, Lewis E. Braverman

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Abstract

We present the case of a 38-yr-old man with a sporadic, multifocal pheochromocytoma and paraganglioma who was discovered to carry a Y791F germline mutation in exon 13 of the RET proto-oncogene. This mutation was found in his 65-yr-old mother and his 86-yr-old maternal grandmother. Neither of them had either biochemical evidence of pheochromocytoma or medullary thyroid carcinoma. The patient had a prophylactic thyroidectomy, which revealed mild C-cell hyperplasia. This case brings to discussion several issues: (1) the benefit of screening patients with apparently sporadic pheochromocytomas for genetic mutations; (2) the management of patients and families with "lower- risk" RET mutations; and (3) the possibility that lower-penetrance RET mutations may contribute to the list of causes of familial pheochromocytomas.

Original language	English (US)
Pages (from-to)	193-198
Number of pages	6
Journal	Endocrine
Volume	28
Issue number	2
DOIs	https://doi.org/10.1385/ENDO:28:2:193
State	Published - Nov 1 2005
Externally published	Yes

Keywords

MEN2
Pheochromocytoma genetics
RET mutation

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Endocrinology

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abstract = "We present the case of a 38-yr-old man with a sporadic, multifocal pheochromocytoma and paraganglioma who was discovered to carry a Y791F germline mutation in exon 13 of the RET proto-oncogene. This mutation was found in his 65-yr-old mother and his 86-yr-old maternal grandmother. Neither of them had either biochemical evidence of pheochromocytoma or medullary thyroid carcinoma. The patient had a prophylactic thyroidectomy, which revealed mild C-cell hyperplasia. This case brings to discussion several issues: (1) the benefit of screening patients with apparently sporadic pheochromocytomas for genetic mutations; (2) the management of patients and families with {"}lower- risk{"} RET mutations; and (3) the possibility that lower-penetrance RET mutations may contribute to the list of causes of familial pheochromocytomas.",

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AU - Braverman, Lewis E.

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AB - We present the case of a 38-yr-old man with a sporadic, multifocal pheochromocytoma and paraganglioma who was discovered to carry a Y791F germline mutation in exon 13 of the RET proto-oncogene. This mutation was found in his 65-yr-old mother and his 86-yr-old maternal grandmother. Neither of them had either biochemical evidence of pheochromocytoma or medullary thyroid carcinoma. The patient had a prophylactic thyroidectomy, which revealed mild C-cell hyperplasia. This case brings to discussion several issues: (1) the benefit of screening patients with apparently sporadic pheochromocytomas for genetic mutations; (2) the management of patients and families with "lower- risk" RET mutations; and (3) the possibility that lower-penetrance RET mutations may contribute to the list of causes of familial pheochromocytomas.

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A RET mutation with decreased penetrance in the family of a patient with a "sporadic" pheochromocytoma

Abstract

Keywords

ASJC Scopus subject areas

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