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非霍奇金淋巴瘤中的BRAF突变

BRAF mutations in non-Hodgkin's lymphoma.

作者信息

Lee J W, Yoo N J, Soung Y H, Kim H S, Park W S, Kim S Y, Lee J H, Park J Y, Cho Y G, Kim C J, Ko Y H, Kim S H, Nam S W, Lee J Y, Lee S H

机构信息

Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Socho-gu, Seoul 137-701, Korea.

出版信息

Br J Cancer. 2003 Nov 17;89(10):1958-60. doi: 10.1038/sj.bjc.6601371.

DOI:10.1038/sj.bjc.6601371
PMID:14612909
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2394455/
Abstract

Ras proteins control signalling pathways that are key regulators of several aspects of normal cell growth and malignant transformation. BRAF, which encodes an RAF family member in the downstream pathway of RAS, is somatically mutated in a number of human cancers. The activating mutation of BRAF is known to play a role in tumour development. As there have been no data on the BRAF mutation in non-Hodgkin's lymphoma (NHL), we analysed the genomic DNAs from 164 NHLs by polymerase chain reaction (PCR)-based single-strand conformation polymorphism (SSCP) for the detection of somatic mutations of BRAF (exons 11 and 15). Overall, we detected BRAF mutations in four NHLs (2.4%). Whereas most BRAF mutations in human cancers involved V599 of BRAF, all of the four BRAF mutations in the NHLs involved other amino acids (one G468A, two G468R and one D593G). To our knowledge, this is the first report on BRAF mutation in NHL, and the data indicate that BRAF is occasionally mutated in NHL, and suggest that BRAF mutation may contribute to the tumour development in some NHLs.

摘要

Ras蛋白控制着信号通路,这些信号通路是正常细胞生长和恶性转化多个方面的关键调节因子。BRAF在RAS下游通路中编码一种RAF家族成员,在多种人类癌症中发生体细胞突变。已知BRAF的激活突变在肿瘤发展中起作用。由于尚无关于非霍奇金淋巴瘤(NHL)中BRAF突变的数据,我们通过基于聚合酶链反应(PCR)的单链构象多态性(SSCP)分析了164例NHL的基因组DNA,以检测BRAF(第11和15外显子)的体细胞突变。总体而言,我们在4例NHL中检测到BRAF突变(2.4%)。人类癌症中的大多数BRAF突变涉及BRAF的V599,而NHL中的4例BRAF突变均涉及其他氨基酸(1例G468A、2例G468R和1例D593G)。据我们所知,这是关于NHL中BRAF突变的首次报告,数据表明BRAF在NHL中偶尔发生突变,并提示BRAF突变可能在某些NHL的肿瘤发展中起作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71ea/2394455/f2b2da41302b/89-6601371f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71ea/2394455/f2b2da41302b/89-6601371f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71ea/2394455/f2b2da41302b/89-6601371f1.jpg

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