A RET mutation with decreased penetrance in the family of a patient with a "sporadic" pheochromocytoma.
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 pro-phylactic 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.
Arum
Seth M
SM
Department of Medicine, Section of Endocrinology, Diabetes, and Nutrition, Boston University Medical Center, Boston, MA, USA.
Dahia
Patricia L M
PL
Schneider
Katherine
K
Braverman
Lewis E
LE
D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005820:Genetic Testing; D006801:Humans; D006965:Hyperplasia / Q000601:surgery; D008297:Male; D010375:Pedigree; D019683:Penetrance; D010673:Pheochromocytoma / Q000235:genetics*; D017354:Point Mutation; D000090063:Proto-Oncogene Mas; D013961:Thyroid Gland / Q000473:pathology; D013964:Thyroid Neoplasms / Q000517:prevention & control; D013965:Thyroidectomy