Search of the p.M918T Mutation in the RET Oncogene in Mexican Adult Patients with Medullary Thyroid Carcinoma

• Published in: Experimental and clinical endocrinology & diabetes Vol. 125; no. 4; p. 218
• Main Authors: Ruiz-Garcia, Erika, Vidal-Millan, Silvia, Lopez-Yañez, Alicia, Torres, José Antonio Posada, Guadarrama-Orozco, Jorge Alberto, Lino-Silva, Leonardo Saul, Meneses-Garcia, Abelardo, Astudillo-de la Vega, Horacio, Garcia, Martin Granados
• Format: Journal Article
• Language: English
• Published: Germany 01.04.2017
• Subjects: Adolescent; Adult; Amino Acid Substitution; Carcinoma, Neuroendocrine - epidemiology; Carcinoma, Neuroendocrine - genetics; DNA Mutational Analysis; Female; Gene Frequency; Humans; Male; Methionine - genetics; Mexico - epidemiology; Middle Aged; Mutation, Missense; Proto-Oncogene Proteins c-ret - genetics; Threonine - genetics; Thyroid Neoplasms - epidemiology; Thyroid Neoplasms - genetics; Young Adult
• ISSN: 1439-3646
• DOI: 10.1055/s-0042-121661

Inherited mutations in the RET proto-oncogene, which encodes a receptor tyrosine kinase, predispose individuals to the multiple endocrine neoplasia type 2 (MEN 2) cancer syndromes. The major component tumor of these syndromes is medullary thyroid carcinoma (MTC). To date, somatic mutations in RET have been identified in tumors from individuals with MEN 2 finding. RET M918T mutation is present in 95% of the MEN2B cases, and approximately 50% of sporadic MTCs harbor this mutation. We performed a mutational analysis in 17 cases of Medullary thyroid carcinoma, the somatic missense mutation at codon 918 of RET was found in 2 of the 17 MTCs, and one case presented MEN2 phenotype including MTC. The percentage of RET M918T mutation is similar in Mexican MTC patients to other series, although other mutations could be implicated in our population.