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
Translational Medicine Laboratory, National Cancer Institute, Mexico City, Mexico City.
Molecular Diagnostic Laboratory, National Cancer Institute, Mexico City.
Exp Clin Endocrinol Diabetes. 2017 Apr;125(4):218-222. doi: 10.1055/s-0042-121661. Epub 2017 Feb 6.
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.
原癌基因RET编码一种受体酪氨酸激酶,该基因的遗传性突变会使个体易患2型多发性内分泌肿瘤(MEN 2)癌症综合征。这些综合征的主要组成肿瘤是甲状腺髓样癌(MTC)。迄今为止,在患有MEN 2的个体的肿瘤中已鉴定出RET的体细胞突变。RET M918T突变存在于95%的MEN2B病例中,约50%的散发性MTC携带此突变。我们对17例甲状腺髓样癌进行了突变分析,在17例MTC中的2例中发现了RET第918密码子的体细胞错义突变,其中1例表现出包括MTC在内的MEN2表型。墨西哥MTC患者中RET M918T突变的百分比与其他系列相似,尽管我们的人群中可能涉及其他突变。