甲状腺乳头状癌中RAS点突变的患病率；K-RAS密码子31处的一种新突变。

Prevalence of RAS point mutations in papillary thyroid carcinoma; a novel mutation at codon 31 of K-RAS.

作者信息

Cyniak-Magierska A, Brzeziańska E, Januszkiewicz-Caulier J, Jarzab B, Lewiński A

机构信息

Department of Endocrinology and Metabolic Diseases, Medical University of Lodz, Polish Mother's Memorial Hospital - Research Institute, Lodz, Poland.

出版信息

Exp Clin Endocrinol Diabetes. 2007 Oct;115(9):594-9. doi: 10.1055/s-2007-981670.

DOI:10.1055/s-2007-981670

PMID:17943694

Abstract

The aim of this study was to assess the incidence of point mutations in RAS oncogenes of papillary thyroid carcinoma (PTC). Tumour specimens were obtained from 29 PTCs. The fragments of exons 1 and 2 of RAS oncogenes family (H- RAS, K- RAS, N- RAS) were amplified and then, point mutations were detected by SSCP and/or by RFLP analysis. Several DNA samples were directly sequenced to confirm the results. Two mutations were found in this study (GAA/CAA at codon 31 of K- RAS and CAA/CAC at codon 61 of N- RAS oncogene). These data confirm the results of previous studies, showing that RAS mutations are more rarely found in PTC than in follicular neoplasms. The influence of a novel mutation at codon 31 of K- RAS oncogene on the development of PTC needs further studies.

摘要

本研究的目的是评估甲状腺乳头状癌（PTC）中RAS癌基因点突变的发生率。从29例PTC中获取肿瘤标本。对RAS癌基因家族（H-RAS、K-RAS、N-RAS）的外显子1和2片段进行扩增，然后通过单链构象多态性（SSCP）和/或限制性片段长度多态性（RFLP）分析检测点突变。对几个DNA样本进行直接测序以确认结果。本研究发现了两个突变（K-RAS基因第31密码子处的GAA/CAA和N-RAS癌基因第61密码子处的CAA/CAC）。这些数据证实了先前研究的结果，表明RAS突变在PTC中比在滤泡性肿瘤中更少见。K-RAS癌基因第31密码子处新突变对PTC发生发展的影响需要进一步研究。