Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update.

ABSTRACT:

Context

Over the last decade, our knowledge of the multiple endocrine neoplasia (MEN) type 2 syndromes MEN2A and MEN2B and familial medullary thyroid carcinoma (FMTC) has expanded greatly. In this manuscript, we summarize how recent discoveries have enhanced our understanding of the molecular basis of these diseases and led to improvements in the diagnosis and management of affected patients.

Evidence acquisition

We reviewed the English literature through PubMed from 2000 to the present, using the search terms medullary thyroid carcinoma, multiple endocrine neoplasia type 2, familial medullary thyroid carcinoma, RET proto-oncogene, and calcitonin.

Evidence synthesis

Over 70 RET mutations are known to cause MEN2A, MEN2B, or FMTC, and recent findings from studies of lar

SUBMITTER: Wells SA 

PROVIDER: S-EPMC5399478 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature