Nawal Habak Author

Case Report Open Access

A Case of MEN2A Associated with a C634R De-novo Mutation of the RET Gene at Algiers

Author(s):

Ammar Chikouche, Nadia Ould Bessi, Nawal Habak and Mebarek Boudissa

Introduction
Multiple endocrine neoplasia type 2A (MEN2A) is characterized by the association of medullary thyroid carcinoma (MTC) with pheochromocytoma and hyperparathyroidism. MEN2A represents 60% of MEN2 which is also subdivided into MEN2B (5%) and medullary thyroid cancer of the family (FMTC) which represents 35%. MEN2A is a rare hereditary disease, with autosomal dominant inheritance. Specific mutations of the RET protooncogene are associated with this disease.

Case Presentation and methods

The index case was an 18-year-old female patient with medullary thyroid cancer, without other clinical abnormalities. A blood sample taken from an EDTA tube was sent to the molecular biology laboratory accompanied by a request f... view more»

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