Multiple endocrine neoplasia type 2 (MEN 2) contains three subtypes: MEN2A, MEN2B and FMTC (familial medullary thyroid carcinoma). All three subtypes are associated with a high risk for medullary carcinoma of the thyroid (MTC). Mutations in the RET gene are responsible for more than 95% of all MEN2 cases and all MEN 2 subtypes are inherited in an autosomal dominant manner.
MEN2A has an increased risk for parathyroid adenoma or hyperplasia while both MEN2A and MEN2B have an increased risk for pheochromocytoma. Additional features in MEN2B include mucosal neuromas of the lips and tongue and neuromatosis of the gastrointestinal tract. In MEN2B medullary thyroid carcinoma (MTC) typically occurs in early childhood, while in MEN2A in early adulthood and middle age in FMTC.
We perform automated bi-directional fluorescent DNA sequencing of coding exons 10, 11, 13, 14, 15 and 16, including the intron/exon boundaries, of the RET gene, thus detecting more than 98% of pathological mutations associated with MEN2.
Please note that InterGenetics participates successfully in the EMQN external quality control (EQA) scheme for genetic testing of MEN2.