Multiple Endocrine Neoplasia 2a: Case Report and Review of Literature

Abstract

Multiple endocrine neoplasia is a hereditary, autosomal dominant disease. It is created predominantly by RET germline mutations and is considered rare, with a frequency of 1 in 30,000 people. In particular, medullary thyroid cancer associated to this pathology presents at a younger age in relation to sporadic cases. Pheochromocytoma is linked to metastatic disease in only 4% of cases and it is a disease which requires high clinical suspicion. The age of presentation when related to multiple endocrine neoplasia is lower than that of the general population, 38 and 47 years of age respectively. RET proto-oncogene mutation on Codon 634 in exon 11 is the most frequent genetic alteration, present in 85% of cases of MEN2A. Its penetrance for pheochromocytoma is 25% at 30 years and 88% at 77. The objective of this article is to present a case of a patient with MEN2A with bilateral pheochromocytoma and medullary thyroid cancer, discovered in a hypertensive man as an incidental finding.