ABSTRACT
Multiple Endocrine Neoplasia type 2A (MEN 2A) is an autosomal dominant disease including medullary thyroid carcinoma (MTC), pheochromocytoma and primary hyperparathyroidism. Germline mutations in the RET proto-oncogene are well documented as the genetic cause of multiple endocrine neoplasia type 2A (MEN2A) and familial medullary thyroid carcinoma (FMTC). Herein, we report a rare mutation of the RET gene (D631Y) in a Turkish family with MEN 2A. The presented case was diagnosed as pheochromocytoma and has got RET gene homozygote mutation, with no clinical evidence of MTC at the time of diagnosis. Four siblings of the patient were asymptomatic and each has got heterozygote mutation of D631Y (c.1891G›T). Three years after bilateral adrenalectomy due to pheochromocytoma, the patient was diagnosed with MTC and underwent total thyroidectomy.
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