摘要
目的:探讨多发性骨髓瘤(multiple myeloma,MM)细胞遗传学及分子遗传学特点。方法:86例初治MM患者的骨髓标本采用荧光原位杂交(fluorescence in situ hybridization,FISH)技术进行分子遗传学分析,其中20例同时进行染色体核型分析。结果:FISH检测显示,在68例中至少检测出一种分子遗传学异常,总检出率79. 07%。Ig H基因断裂重排、1q21位点扩增、D13S319、RB1、P53基因缺失的检出率分别为62. 79%、26. 74%、24. 42%、13. 95%和1. 16%,Ig H阳性率较其它几种异常的阳性率明显增高(P <0. 01)。68例中Ig H阳性占79. 41%,其中单一阳性59. 26%,合并1、2、3、4个探针阳性分别占24. 07%、11. 11%、5. 56%和0。单一阳性明显高于合并其它探针阳性(P <0. 01)。68例中1q21阳性33. 82%,其中单一阳性21. 74%,合并1、2、3、4个探针阳性分别占43. 48%、21. 74%、13. 04%和0,1q21更多的是与其它探针合并阳性(P <0. 01),以和Ig H合并阳性为主(P <0. 05)。68例中D13S319阳性30. 88%,其中单一阳性14. 29%,合并1、2、3、4个探针阳性分别为28. 57%、42. 86%、14. 29%和0。D13S319亦更多的与其它探针合并阳性(P <0. 01),以合并1个及2个探针阳性为主(P <0. 01)。68例中RB1阳性率为17. 65%,其中单一探针阳性0,合并1、2、3、4个探针阳性分别为25. 00%、50. 00%、25. 00%和0。RB1探针总是与其它探针合并阳性,其中以与D13S319探针合并阳性为主(P <0. 01)。68例中P53检出率为1. 47%(1/68),为1例P53/RB1/D13S319探针阳性患者。染色体核型示:正常17例,其中15例FISH检测阳性,核型异常3例,其中2例FISH检测阳性。FISH联合染色体核型分析的阳性率与单一染色体核型分析阳性率之间差异有统计学意义(P <0. 05)。结论:MM的遗传学异常具有明显的异质性,FISH技术的敏感性优于染色体核型分析技术,两者结合,可提高异常的检出率。
Objective: To explore the characteristics of cytogenetics and molecular genetics in patients with multiple myeloma( MM) .Methods: Fluorescence in situ hybridization( FISH) was used for molecular genetics analysis in 86 cases of newly diagnosed MM,at the same time the chromosome karyotype analysis was performed in 20 cases.Specimen were bone marrow cells.Results: FISH detection showed that 68 cases of MM ( 79.07%) had at least one type of the molecular genetic abnormalities.The positive rates of IgH rearrangement,1q21 amplification,D13S319 deletion,RB1 deletion and P53 deletion were 62.79%,26.74%,24.42% ,13.95% and 1.16%,respectively.The positive rate of IgH was significantly higher than that of any other probes( P<0.01) .The positive rate of IgH was 79.41% in 68 cases.Out of which the positive rate of IgH single and combined with 1,2,3,4 probes was 59.26%,24.07%,11.11%,5.56% and 0 respectively.The positive rate of IgH only was very signficantly higher than that of combined with any other probes( P<0.01) .The positive rate of 1q21 was 33.82% in 68 cases,Out of which the positive rates of 1q21 or combined with 1,2,3,4 probes was 21.74%,43.48%,21.74%,13.04% and 0 respectively,the 1q21 probe showed positive as combined with other probes( P<0.01) ,especially with IgH( P<0.05) .The positive rates of D13S319 were 30.88% in 68 cases of patients,out of which the positive rates of D13S319 single or combined with 1,2,3,4 probes was 14.29%,28.57%,42.86%,14.29% and 0 respectively,the D13S319 combined with other probes appeared more significant positive( P<0.01) ,especially with 1 or 2 probes ( P<0.01) .The positive rate of RB1 was 17.65% in 68 cases,the positive rate of RB1 singl or combined with 1,2,3,4 probes were 0,25%,50%,25% and 0,the RB1 appeared positive always combined with other probes,especially with D13S319 probe ( P<0.01) .The positive rate of P53 was 1.47%,as combined with RB1 and D13S319 probes.The chromosomal karyotyping showed that 3 cases carried abnormal chromosomal and 17 cases carried normal chromosome,Out of which 17 cases showed positive by FISH.There was a significant difference of sensitivity between FISH combined with chromosome karvotyping and single chromosome karvotype ( P<0.01) .Conclusion: The genetic abnormalies display obvious heterogenicity in MM.The sensitivity of FISH is higher than that of chromosomal karvotyping.If FISH and chromosome karvotyping are combined,the positive rate of abnormality can be raised.
作者
王存邦
吴静
杨珂
苏淼
张海英
潘耀柱
吴涛
葸瑞
白海
WANG Cun-Bang;WU Jing;YANG Ke;SU Miao;ZHANG Hai-Ying;PAN Yao-Zhu;WU Tao;XI Rui;BAI Hai(Department of Hematology,Lanzhou General Hospital,Chinese PLA,Lanzhou 730050,Gansu Province,China)
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2018年第6期1681-1687,共7页
Journal of Experimental Hematology
关键词
多发性骨髓瘤
染色体核型
细胞遗传学
multiple myeloma
chromosome karvotypes
fluorescence in situ hybridization
