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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Arum, S.M., Dahia, P.L.M., Schneider, K. et al. A RET mutation with decreased penetrance in the family of a patient with a “sporadic” pheochromocytoma. Endocr 28, 193–198 (2005). https://doi.org/10.1385/ENDO:28:2:193
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DOI: https://doi.org/10.1385/ENDO:28:2:193