Somatic mutations in the RET protooncogene in Japanese and Chinese sporadic medullary thyroid carcinomas  

作　　者：ShanLiang MisaNakamura YashiNakamura JingXuefeng ToyoharuYokoi KennichiKakudo ShouNanhai JiangXihongJian 

机构地区：[1]Second Department of Pathology,Wakayama Medical College,27-Kyubancho,Wakayama City,Wakaya-ma,640Japan M.D.

出　　处：《中国现代普通外科进展》1998年第1期54-57,共4页Chinese Journal of Current Advances in General Surgery

摘　　要：Objective Despite advances in the understanding of the genotype - phenotype correlation in multiple endocrine neoplasia type 2A and 2B (MEN 2A, MEN 2B), and familial medullary thyroid carcinoma (FMTC), the frequency and prognostic relevance of RET protoonco-gene mutations in sporadic medullary thyroid carcinomas (MTCs) remain controversial. Methods To study somatic mutations in the RET protooncogene in Japanese and Chinese sporadic MTCs and to comparatively analyze the correlation between RET mutation and tumor differentiation, we investigated somatic mutations in the RET protooncogene in 20 Japanese and 20 Chinese sporadic MTCs by the polymerase chain reaction - restriction fragment length polymorphism (PCR- RFLP) method. Results Of the 40 sporadic MTCs, 13 had a point mutation in codon 918 of exon 16, a frequency of 32.5%. There was no significant difference in the frequency between Japanese and Chinese sporadic MTCs, as 3096 of the Japanese and 35% of the Chinese sporadic MTCs contained this mutation.objective Despite advances in the understanding of the genotype - phenotype correlation in multiple endocrine neoplasia type 2A and 2B (MEN 2A, MEN 2B), and familial medullary thyroid carcinoma (FMTC), the frequency and prognostic relevance of RET protoonco-gene mutations in sporadic medullary thyroid carcinomas (MTCs) remain controversial. Methods To study somatic mutations in the RET protooncogene in Japanese and Chinese sporadic MTCs and to comparatively analyze the correlation between RET mutation and tumor differentiation, we investigated somatic mutations in the RET protooncogene in 20 Japanese and 20 Chinese sporadic MTCs by the polymerase chain reaction - restriction fragment length polymorphism (PCR- RFLP) method. Results Of the 40 sporadic MTCs, 13 had a point mutation in codon 918 of exon 16, a frequency of 32.5%. There was no significant difference in the frequency between Japanese and Chinese sporadic MTCs, as 3096 of the Japanese and 35% of the Chinese sporadic MTCs contained this mutation. We did not observe any correlation between the presence or absence of codon 918 mutation and tumor differentiation in either Japanese or Chinese sporadic MTCs. Conclusion Our findings indicate that the frequency of RET somatic mutations is similar in Japanese and Chinese sporadic MTCs, and the presence or absence of RET mutation does not correlate with the differentiation of sporadic MTCs.

关 键 词：甲状腺髓样癌 分子生物学 基因突变 RET PROTOONCOGENE 

分 类 号：R736.1[医药卫生—肿瘤]