摘要
目的:应用荧光原位杂交(FISH)技术,以骨髓细胞涂片和骨髓活检病理组织为标本,检测多发性骨髓瘤(MM)患者分子细胞遗传学异常情况。方法:在确诊的58例初发MM患者中对48例患者取骨髓细胞进行CD138磁珠分选浆细胞后滴片、10例取骨髓制成病理组织石蜡切片,采用多个探针(d13s319、RB1、p53、1q21、IgH、IgH/FGFR3、IgH/MAF)对两种不同类型标本进行FISH检测。结果:对骨髓细胞和病理组织两种标本进行FISH检测后都出现可供分析的荧光信号,58例MM患者中,有30例检测出分子遗传学异常,总检出率为51.7%(30/58),其中d13s319缺失17例(占29.3),RB1缺失17例(占29.3),P53缺失7例(占12%),1q21扩增16例(占27.6%),IgH重排12例(20.7%),对IgH重排患者进一步检测发现IgH/FGFR3融合6例(占10.3%),IgH/MAF融合1例(占1.7%)。在这30例遗传学异常患者中,仅有7例患者检出1种异常,占23.3%(7/30),其余23例患者均具有2-5种遗传学异常,占76.7%(23/30)。结论:半数以上MM患者都存在染色体改变,而且大部分均为复杂畸变,利用不同类型标本进行FISH检测,可以扩大FISH的应用范围,为MM预后判断提供更多的分子细胞遗传学信息。
Objective: To detect the molecular cytogenetic abnormalities in different bone marrow samples of multiple myeloma by using fluorescence in situ hybridization( FISH) technology. The bone marrow cells from 48 cases of MM were taken for sorting the plasma cells using CD138 magnetic beads,and the biopsy tissue from 10 cases of MM was taken and embedded in parafin,then the 2 kinds of samples were detected by using FISH. D13s319 /RB1,1q21 /P53,IgH,IgH /FGFR3,IgH /MAF probes were detected in 58 patients with new diagnosed multiple myeloma( MM) by FISH technology. Results: Fluorescent signals were both seen in 2 different types of bone marrow samples and cytogenetic aberrations were detected in 30 /58( 51. 7%) patients,29. 3%( 17 out of 58) cases had both D13S319 and RB1 deletion. The positive rates of P53 deletion,1q21 amplification and IgH rearrangement were 12%,27. 6% and20. 7%,respectively. Only 7 cases( 23. 3%) had one cytogenetic abnormality,other 23( 76. 7%) cases all had 2 to 5kinds of different abnormalities. Conclusion: More than half of MM patients have cytogenetic change,and most of them are complex chromosomal abnormality. The different kinds of samples can expand the useful extension of FISH technology and acquire more cytogenetic information for clinician.
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2015年第5期1352-1356,共5页
Journal of Experimental Hematology
关键词
荧光原位杂交技术
多发性骨髓瘤
分子细胞遗传学异常
Fluorescence in situ hybridization technology
multiple myeloma
Molecular cytogenetic abnormalities
