Wang Yan-Fang, Wang Hua, Xi Lian-Yong, Zhang Zhen-Hao, Wang Jing, Dong Fei, Ke Xiao-Yan
Department of Hematology, Peking University Third Hospital, Beijing 100191, China.
Department of Hematology, Peking University Third Hospital, Beijing 100191, China.E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2018 Oct;26(5):1389-1395. doi: 10.7534/j.issn.1009-2137.2018.05.022.
To detect the molecular cytogenetic abnormalities of multiple myeloma (MM) by using microrray-based comparative genomic hybridization (array-CGH) technology and to investigate its value of application in MM.
The whole-genoine copy number variants (CNV) of bone marrow samples acquired from 20 cases of newly diagnosed MM patients were detected by genome-wide hybridization and scanning by CytoScan 750K Array (Affymetrix). At the same time, the chromosome abnormalities of bone marrow cells were detected by karyotype analysis and FISH using 9 specific probes: D13S319, RB1, p53, 1q21, IgH, IgH/CCND1, IgH/FGFR3, IgH/MAF, IgH/MAFB.
Among the 20 MM patients, the incidence of chromosome abnormalities detected by karyotype analysis, FISH and array-CGH were 15%, 65% and 90%, respectively. The types of CNV detected by array-CGH included the gain (106), loss (156) or UPD (23). There were many different CNVs in every chromosomes except chromosome 5, 9, 18, 21 and Y. Comparison of chromosome abnormalities detected by FISH and array-CGH showed that, the positive ratio of del (13q) was 35% and 40% respectively; the positive ratio of amp (1q) was 40% and 50% respectively; the positive ratio of del (17p) was both 15%. FISH detection showed 8 cases with IgH rearrangement, meansahile the array-CGH detection showed that 4 cases had amp (11q13) (CCND1 gene), 3 cases had amp (16q23) (MAF gene), 1 case had amp (4p16) (FGFR3 gene) and 2 cases had amp (20q12) (MAFB gene). Besides, many other new chromosome abnormalities were found.
More than half of MM patients have cytogenetic changes, and most of them are complex chromosomal abnormalities. By using array-CGH, more chromosome abnormalities can be detected and more cytogenetic information can be provided for clinician.
应用基于微阵列的比较基因组杂交技术（array-CGH）检测多发性骨髓瘤（MM）的分子细胞遗传学异常，并探讨其在MM中的应用价值。
采用CytoScan 750K芯片（Affymetrix）对20例新诊断MM患者的骨髓样本进行全基因组杂交和扫描，检测全基因组拷贝数变异（CNV）。同时，采用核型分析和荧光原位杂交（FISH）技术，使用9种特异性探针（D13S319、RB1、p53、1q21、IgH、IgH/CCND1、IgH/FGFR3、IgH/MAF、IgH/MAFB）检测骨髓细胞的染色体异常。
20例MM患者中，核型分析、FISH和array-CGH检测到的染色体异常发生率分别为15%、65%和90%。array-CGH检测到的CNV类型包括增益（106）、缺失（156）或单亲二倍体（23）。除5号、9号、18号、21号染色体和Y染色体外，各染色体均存在多种不同的CNV。FISH和array-CGH检测到的染色体异常比较显示，del（13q）的阳性率分别为35%和40%；amp（1q）的阳性率分别为40%和50%；del（17p）的阳性率均为15%。FISH检测显示8例IgH重排，同时array-CGH检测显示4例有amp（11q13）（CCND1基因），3例有amp（16q23）（MAF基因），1例有amp（4p16）（FGFR3基因），2例有amp（20q12）（MAFB基因）。此外，还发现了许多其他新的染色体异常。
半数以上MM患者存在细胞遗传学改变，且大多为复杂染色体异常。应用array-CGH可检测到更多染色体异常，为临床医生提供更多细胞遗传学信息。
