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) |
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Pages (from-to) | 193-198 |
Number of pages | 6 |
Journal | Endocrine |
Volume | 28 |
Issue number | 2 |
DOIs | |
State | Published - Nov 1 2005 |
Externally published | Yes |
Keywords
- MEN2
- Pheochromocytoma genetics
- RET mutation
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Endocrinology