Searchable abstracts of presentations at key conferences in endocrinology

ea0029p1837 | Thyroid cancer | ICEECE2012

A novel tandem germline RET mutations on the same allele in a patient with MEN 2B

Nakao K. , Usui T. , Ikeda M. , Mori Y. , Kawashima S. , Nanba K. , Tamanaha T. , Tagami T. , Naruse M. , Yamamoto T. , Shimatsu A.

Multiple endocrine neoplasia type2 (MEN 2) (OMIM 171400) is an autosomal dominant inherited cancer syndrome caused by activating mutations in the RET proto-oncogene. MEN 2 is classified into three subtypes: MEN 2A, MEN 2B and familial medullary thyroid carcinoma(FMTC). MEN 2B accounts for 5–10% of MEN2 cases. More than 95% of MEN 2B patients carry M918T mutation of RET, and 2–3% harbor A883F mutation. There has been three reports of cases with MEN 2B phenotype caused...