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[高危多发性骨髓瘤的细胞遗传学异常]

[Cytogenetic abnormalities in high-risk multiple myeloma].

作者信息

Ishida Tadao

出版信息

Nihon Rinsho. 2015 Jan;73(1):28-32.

Abstract

Multiple myeloma is a genetically complex disease. Myeloma can be divided into hyperdiploid and non-hyperdiploid subtypes. Non-hyperdiploid subtype is mainly composed of cases harboring IgH translocations, generally associated with more aggressive clinical features and shorter survival. From a comprehensive FISH tests, the lesions associated with short progression-free survival and overall survival in multivariate analysis were del(17p13), abnormalities of chromosome 1(1p deletion and 1q amplification) and an adverse immunoglobulin heavy chain gene translocation group incorporating t(4;14), t(14;16) and t(14;20). Furthermore, the high frequency of mutations in the ERK pathway (NRAS in 24%, KRAS in 27% and BRAF in 4%) indicates that the ERK pathway is crucial for myeloma development.

摘要

多发性骨髓瘤是一种基因复杂的疾病。骨髓瘤可分为超二倍体和非超二倍体亚型。非超二倍体亚型主要由携带免疫球蛋白重链(IgH)易位的病例组成,通常与更具侵袭性的临床特征和较短的生存期相关。综合荧光原位杂交(FISH)检测显示,多变量分析中与无进展生存期和总生存期缩短相关的病变包括17号染色体短臂13区缺失(del(17p13))、1号染色体异常(1p缺失和1q扩增)以及包含t(4;14)、t(14;16)和t(14;20)的不良免疫球蛋白重链基因易位组。此外,细胞外信号调节激酶(ERK)通路的高频突变(NRAS突变率为24%,KRAS为27%,BRAF为4%)表明ERK通路对骨髓瘤的发展至关重要。

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