Disease characteristics
Multiple endocrine neoplasia type 2 is a group of medical disorders associated with tumors of the endocrine system. The tumors may be benign or malignant (cancerous). They generally occur in endocrine organs such as thyroid, parathyroid, and adrenals.
Gene and Mutations
Multiple endocrine neoplasia type 2 is an autosomal dominant genetic disorder with a high risk of medullary thyroid cancer. It is classified into three subtypes, MEN2A, familial medullary thyroid carcinoma (FMTC), and MEN2B. It is caused by mutations in the RET proto-oncogene, a gne involved in cell division. This assay detects disease-causing mutations in MEN2A, MEN2B, and FMTC cases. Mutation identification can be used to confirm clinical symptoms, screen individuals at risk, or distinguish familial from other types.
Symptoms & Methodology
Single or multiple thyroid nodules, have high blood pressure (sustained or episodic), rapid heart rate and elevated temperature. Complete sequencing of exons 10, 11, 13, 14, 15 and 16 of the RET proto-oncogene from the genomic DNA followed by mutation analysis. However the results should always be interpreted with clinical and familial data.