Familial medullary thyroid carcinoma: A rare germline mutation in the RET proto-oncogene

Fatima Maarouf; Amal Tazzite; Hind Dehbi

doi:10.71599/bhr.v2i1.78

Auteurs

Fatima Maarouf génétique médicale
Amal Tazzite 2 Laboratory of Cellular and Molecular Pathology, Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco 3 Higher Institute of Nursing Professions and Health Techniques of Casablanca, Morocco
Hind Dehbi 2 Laboratory of Cellular and Molecular Pathology, Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco 3 Higher Institute of Nursing Professions and Health Techniques of Casablanca, Morocco

DOI :

https://doi.org/10.71599/bhr.v2i1.78

Mots-clés :

Medullary thyroid carcinoma, RET proto-oncogene, Familial medullary thyroid carcinoma (FMTC).

Résumé

Medullary thyroid carcinoma (MTC) is an aggressive thyroid cancer that generally accounts for more than 10% of thyroid malignancies. Approximately 25% of MTC cases exhibit up hereditary traits. Dominantly inherited syndromes of MTC such as multiple endocrine neoplasia type 2A (MEN 2A), multiple endocrine neoplasia type 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC) are linked to gain-of-function alterations in the RET proto-oncogene. This latter encodes a receptor tyrosine kinase involved in several signal transduction pathways in neural precursor cells. Therefore, genetic screening for RET mutations facilitates early disease diagnosis and the possibility of prophylactic thyroidectomy for at-risk relatives. This study underscores the relevance of RET genetic analysis by describing a familial case of MTC with c.1597G>T (p.Gly533Cys) mutation in the RET gene.