[多发性骨髓瘤中的基因异常：在肿瘤发生中的作用及对生存的影响]

[Genetic abnormalities in multiple myeloma: role in oncogenesis and impact on survival].

作者信息

Decaux O, Lodé L, Minvielle S, Avet-Loiseau H

机构信息

Service de médecine interne, hôpital Sud, 16 boulevard de Bulgarie, BP 90347, 35203 Rennes cedex 02, France.

出版信息

Rev Med Interne. 2007 Oct;28(10):677-81. doi: 10.1016/j.revmed.2007.04.013. Epub 2007 May 25.

DOI:10.1016/j.revmed.2007.04.013

PMID:17559979

Abstract

PURPOSE

Recent development of interphase fluorescence in situ hybridization (FISH) allows analysis on non-proliferant plasma cells. We describe the most frequent genetic abnormalities in multiple myeloma and their prognostic value.

CURRENT KNOWLEDGE AND KEY POINTS

Most frequent genetic abnormalities are illegitimate rearrangements involving the IGH gene at 14q32 (60% of patients), hyperdiploidy (50 to 60% of patients), chromosome 13 deletion (40 to -50% of patients), chromosome 1q gain (30 to -40% of patients) chromosome 17 deletion (10% of patients). Some of these genetics abnormalities are observed in monoclonal gammopathy of undetermined significance (MGUS), a pre-malignant state. t(4;14) and t(14;16) translocations and chromosome 17 deletion negatively impact the overall survival. Patients with these genomic aberrations should be treated with specific treatment.

FUTURE PROSPECTS AND PROJECTS

Identification of genetic abnormalities is important for evaluation of prognosis and treatment protocol in multiple myeloma.

摘要

目的

近期间期荧光原位杂交（FISH）技术的发展使得对非增殖性浆细胞进行分析成为可能。我们描述了多发性骨髓瘤中最常见的基因异常及其预后价值。

当前知识与要点

最常见的基因异常是涉及14q32处IGH基因的非法重排（60%的患者）、超二倍体（50%至60%的患者）、13号染色体缺失（40%至50%的患者）、1号染色体获得（30%至40%的患者）、17号染色体缺失（10%的患者）。其中一些基因异常在意义未明的单克隆丙种球蛋白病（MGUS）这一癌前状态中也有观察到。t(4;14)和t(14;16)易位以及17号染色体缺失对总生存期有负面影响。有这些基因组畸变的患者应接受特定治疗。