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

Erika Ruiz-Garcia; Silvia Vidal-Millan; Alicia Lopez-Yañez; José Antonio Posada Torres; Jorge Alberto Guadarrama-Orozco; Leonardo Saul Lino-Silva; Abelardo Meneses-Garcia; Horacio Astudillo-de la Vega; Martin Granados Garcia

doi:10.1055/s-0042-121661

Experimental and Clinical Endocrinology & Diabetes, Table of Contents

Exp Clin Endocrinol Diabetes 2017; 125(04): 218-222
DOI: 10.1055/s-0042-121661

Article

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

Authors

Erika Ruiz-Garcia

¹Translational Medicine Laboratory, National Cancer Institute, Mexico City, Mexico City
Silvia Vidal-Millan

²Molecular Diagnostic Laboratory, National Cancer Institute, Mexico City
Alicia Lopez-Yañez

¹Translational Medicine Laboratory, National Cancer Institute, Mexico City, Mexico City
José Antonio Posada Torres

³Head and Neck Cancer Deparment, National Cancer Institute, Mexico City
Jorge Alberto Guadarrama-Orozco

¹Translational Medicine Laboratory, National Cancer Institute, Mexico City, Mexico City
Leonardo Saul Lino-Silva

⁴Onco-Pathology Department, National Cancer Institute, Mexico City
Abelardo Meneses-Garcia

¹Translational Medicine Laboratory, National Cancer Institute, Mexico City, Mexico City
Horacio Astudillo-de la Vega

⁵Traslational Cancer Research Unit, Centro Medico Nacional Siglo XXI IMSS
Martin Granados Garcia

³Head and Neck Cancer Deparment, National Cancer Institute, Mexico City

Abstract

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.

Key words

Thyroid cancer - medullary thyroid cancer - NEM2B - RET mutations - 918 codon of exon 16 at RET gene

Full Text

References

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