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Multiple endocrine neoplasia type 2 and related genetic conditions

Shern L. Chew, Charis Eng

Abstract

Several mutations of the protooncogene RET cause multiple endocrine neoplasia type 2A and type 2B, familial medullary thyroid carcinoma, and Hirschsprung disease and are associated with some sporadic papillary and medullary thyroid carcinomas. This review covers the molecular pathology of RET in relation to those diseases. In addition, the molecular biology of RET is discussed. Finally, recent studies affecting the care of patients with multiple endocrine neoplasia type 2A and 2B are reviewed together with the role of genetic testing in these conditions.

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Key concepts: Multiple endocrine neoplasia type 2, Multiple endocrine neoplasia, Medullary cavity, Thyroid carcinoma, Medullary carcinoma, Proto-Oncogene Proteins c-ret, Endocrine system, Pheochromocytoma