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基质辅助激光解吸电离飞行时间质谱在检测结直肠癌K-ras基因突变中的应用

[Application of matrix assisted laser desorption ionization-time of flight-mass spectrometry in detecting K-ras gene mutation of colorectal cancer].

作者信息

Xing Jia-di, Zhang Lian-hai, Li Jing-jing, Li Zi-yu, Su Xiang-qian, Ji Jia-fu

机构信息

Peking University Cancer Hospital and Institute, Beijing, China.

出版信息

Zhonghua Wei Chang Wai Ke Za Zhi. 2013 Jan;16(1):80-3.

Abstract

OBJECTIVE

To investigate the clinical value of matrix assisted laser desorption ionization-time of flight-mass spectrometry (MALDI-TOF-MS) in detecting K-ras gene mutation.

METHODS

Sixty-one paraffin-embeded specimens of colorectal cancer were selected. MALDI-TOF-MS and regular sequencing were used to test the mutation of codon 12 and 13 in K-ras exon 2.

RESULTS

Only 47 specimens could be detected successfully in regular sequencing, while all the specimens were tested successfully in MALDI-TOF-MS. Fourteen specimens had K-ras mutation in regular sequencing (30.0%), while 22 specimens had mutation in MALDI-TOF-MS (36.1%). Six specimens with mutation were found in MALDI-TOF-MS but were wild-type in regular sequencing. Same mutation types from 14 specimens were confirmed by both regular sequencing and MALDI-TOF-MS. MALDI-TOF-MS was able to detect the mutation in 2 specimens that was not identified in regular sequencing.

CONCLUSIONS

MALDI-TOF-MS is a feasible approach of K-ras gene mutation testing in colorectal cancer, which is less demanding in terms of specimen quality and is more sensitive as compared to regular sequencing.

摘要

目的

探讨基质辅助激光解吸电离飞行时间质谱(MALDI-TOF-MS)检测K-ras基因突变的临床价值。

方法

选取61例结直肠癌石蜡包埋标本,采用MALDI-TOF-MS和常规测序检测K-ras基因第2外显子12和13密码子的突变情况。

结果

常规测序仅成功检测47例标本,而MALDI-TOF-MS成功检测所有标本。常规测序中14例标本存在K-ras突变(30.0%),MALDI-TOF-MS检测出22例标本存在突变(36.1%)。MALDI-TOF-MS检测出6例突变标本在常规测序中为野生型。常规测序和MALDI-TOF-MS确认14例标本的突变类型相同。MALDI-TOF-MS能检测出常规测序未发现的2例标本的突变。

结论

MALDI-TOF-MS是检测结直肠癌K-ras基因突变的一种可行方法,对标本质量要求较低,比常规测序更敏感。

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