摘要
目的:探讨我国多发性骨髓瘤(multiple myloma,MM)常见的染色体异常及其与各项血清学指标和疗效的关系,旨在筛选有效预测疾病预后的指标,为个体化治疗提供依据。方法:运用荧光原位杂交技术(fluorescence in situ hybridization,FISH)对31例MM患者进行del(13q)、14q32易位、del(17p13)、1q21扩增等细胞遗传学异常检测,其中del(13q)的检测采用了D13S319、RB1两种探针,14q32易位的检测采用IgH探针,del(17p13)的检测采用P53探针,1q21扩增的检测采用1q21探针。分析细胞遗传学异常与患者临床特征、疗效之间的相关性。结果:MM患者13号染色体缺失、14q32易位、1q21异常、17p13缺失的检出率分别为45%、68%、50%、35%;35%的患者同时检出13号染色体部分缺失和14q32易位,79%del(13q)者伴有14q32易位,其中D13S319探针检测阳性者100%伴有14q32易位。31例MM患者诱导治疗后有21例患者达到了轻微反应(欧洲血液和骨髓移植协作组EBMT疗效标准)以上的疗效,总反应率为67.7%,未发现del(13q)、14q32易位、del(17p13)和1q21扩增阳性患者与细胞遗传学异常阴性患者在总反应率上存在差异。结论:国人MM患者的常见染色体异常是del(13q)、14q32相关的易位、1q21异常、del(17p13),其中del(13q)与14q32相关的易位具有密切相关性。
Objective： To investigate with multiple myeloma in China and th features. Methods： In interphase fluore the common chromosome abnormalities of the patients e relationships of cytogenetic abnormalities and cli scence in-situ hybridization （FISH） analysis,a pan probes including D13S319 （13q14. 3）,RBI（RB1 gene）,IgH （14q32）,P53（17p13）,1q21（ gene） was used to study the cytogenetic abnormalities of 31 patients with multiple myeloma; the cli of the in 1q2 nical el of 1q21 and nical implications of cytogenetic abnormalities were investigated. Results： The frequencies partial deletion of chromosome 13,translocation involving the 14q32 region,abnormalities 1 and deletion of 17p13 were 45%, 68%, 50%,and 35% in the study, respectively. The abnormalities of both the partial deletion of chromosome 13 and translocation involving the 14q32 region were found in 35% of the patients. 79% of the patients with del （13q） had 14q32 translocations simultaneously. All the patients with positive detection of probe D13S319 were found to have translocation of 14q32 at the same time. There were correlations between the partial deletion of chromosome 13 and translocation involving the 14q32 region. The overall response rate of induction treatment was 67.7 %. No significant difference was found in patients with positive or negative cytogenetic abnormalities of del （13q）, 14q32 translocation, del （17p13）, and lq21 abnormalities. Conclusions： 13q deletion, IgH rearrangement, chromosome 1 abnormality and 17p13 deletion are the common cytogenetic abnormalities of MM patients in China. There is a significant correlation between the presence of 14q32 translocations and chromosome 13 deletion in MM patients.
出处
《浙江大学学报（医学版）》
CAS
CSCD
北大核心
2009年第5期459-464,共6页
Journal of Zhejiang University(Medical Sciences)
关键词
多发性骨髓瘤/遗传学
原位杂交
荧光
细胞遗传学
染色体畸变
预后
Multiple myeloma/genet
In situ hybridization, fluorescence
Cytogenetics
Chromosome aberrations
Prognosis
