白血病·淋巴瘤
白血病·淋巴瘤
백혈병·림파류
JOURNAL OF LEUKEMIA & LYMPHOMA
2011年
11期
648-651,658
,共5页
霍菲菲%刘欣%汪健%孙自敏%朱薇波%郑昌成%吴竞生%蔡晓燕%韩永胜%杨会志
霍菲菲%劉訢%汪健%孫自敏%硃薇波%鄭昌成%吳競生%蔡曉燕%韓永勝%楊會誌
곽비비%류흔%왕건%손자민%주미파%정창성%오경생%채효연%한영성%양회지
多发性骨髓瘤%原位杂交,荧光%基因异常
多髮性骨髓瘤%原位雜交,熒光%基因異常
다발성골수류%원위잡교,형광%기인이상
Multiple myeloma%In situ hybrdization,fluorescence%Genetic abnormality
目的 应用荧光原位杂交(FISH)技术检测多发性骨髓瘤(MM)常见基因异常.方法 采用1q21/RB1、D13S319/p53、IGH序列特异性基因探针,应用FISH技术对按照WHO诊断标准确诊的44例初诊MM患者进行检测,并与常规细胞遗传学技术(吉姆萨显带)检测结果及临床参数对比.结果 FISH技术检测44例初诊MM患者中32例(72.7％)基因异常,其中1q21扩增11例(25.0％),RB1缺失17例(38.6％),D13S319缺失16例(36.4％),p53缺失6例(13.6％),IGH基因重排19例(43.2％).检出1种异常者10例(22.7％),同时有2种异常者11例(25.0％),3种异常者8例(18.2％),4种异常者3例(6.8％).44例应用常规吉姆萨显带检测16例无分裂象,28例有分裂象者中检出异常核型2例(7.14％),FISH技术基因异常检出率明显高于常规吉姆萨显带技术,差异有统计学意义(P＜0.05).基因异常与临床参数比较结果显示,β2-微球蛋白( β2-MG)与IGH基因重排呈正相关(P＜0.05),骨髓浆细胞数与D13S319缺失呈正相关(P＜0.05),CRE与p53缺失及IGH基因重排呈正相关(P＜0.05),CRP与p53缺失呈正相关(P＜0.05).基因异常与MM分型、分期、年龄分组之间无明显相关性(P＞0.05).结论 MM最常见的基因异常是IGH基因重排以及RBI和D13S319缺失,其次是1q21扩增,p53缺失最少.FISH可检测出与预后密切相关的累及基因位点的微缺失,异常克隆检出率较常规细胞遗传学技术显著提高,FISH可作为MM患者的常规检查,以评估预后,指导临床治疗.
目的 應用熒光原位雜交(FISH)技術檢測多髮性骨髓瘤(MM)常見基因異常.方法 採用1q21/RB1、D13S319/p53、IGH序列特異性基因探針,應用FISH技術對按照WHO診斷標準確診的44例初診MM患者進行檢測,併與常規細胞遺傳學技術(吉姆薩顯帶)檢測結果及臨床參數對比.結果 FISH技術檢測44例初診MM患者中32例(72.7％)基因異常,其中1q21擴增11例(25.0％),RB1缺失17例(38.6％),D13S319缺失16例(36.4％),p53缺失6例(13.6％),IGH基因重排19例(43.2％).檢齣1種異常者10例(22.7％),同時有2種異常者11例(25.0％),3種異常者8例(18.2％),4種異常者3例(6.8％).44例應用常規吉姆薩顯帶檢測16例無分裂象,28例有分裂象者中檢齣異常覈型2例(7.14％),FISH技術基因異常檢齣率明顯高于常規吉姆薩顯帶技術,差異有統計學意義(P＜0.05).基因異常與臨床參數比較結果顯示,β2-微毬蛋白( β2-MG)與IGH基因重排呈正相關(P＜0.05),骨髓漿細胞數與D13S319缺失呈正相關(P＜0.05),CRE與p53缺失及IGH基因重排呈正相關(P＜0.05),CRP與p53缺失呈正相關(P＜0.05).基因異常與MM分型、分期、年齡分組之間無明顯相關性(P＞0.05).結論 MM最常見的基因異常是IGH基因重排以及RBI和D13S319缺失,其次是1q21擴增,p53缺失最少.FISH可檢測齣與預後密切相關的纍及基因位點的微缺失,異常剋隆檢齣率較常規細胞遺傳學技術顯著提高,FISH可作為MM患者的常規檢查,以評估預後,指導臨床治療.
목적 응용형광원위잡교(FISH)기술검측다발성골수류(MM)상견기인이상.방법 채용1q21/RB1、D13S319/p53、IGH서렬특이성기인탐침,응용FISH기술대안조WHO진단표준학진적44례초진MM환자진행검측,병여상규세포유전학기술(길모살현대)검측결과급림상삼수대비.결과 FISH기술검측44례초진MM환자중32례(72.7％)기인이상,기중1q21확증11례(25.0％),RB1결실17례(38.6％),D13S319결실16례(36.4％),p53결실6례(13.6％),IGH기인중배19례(43.2％).검출1충이상자10례(22.7％),동시유2충이상자11례(25.0％),3충이상자8례(18.2％),4충이상자3례(6.8％).44례응용상규길모살현대검측16례무분렬상,28례유분렬상자중검출이상핵형2례(7.14％),FISH기술기인이상검출솔명현고우상규길모살현대기술,차이유통계학의의(P＜0.05).기인이상여림상삼수비교결과현시,β2-미구단백( β2-MG)여IGH기인중배정정상관(P＜0.05),골수장세포수여D13S319결실정정상관(P＜0.05),CRE여p53결실급IGH기인중배정정상관(P＜0.05),CRP여p53결실정정상관(P＜0.05).기인이상여MM분형、분기、년령분조지간무명현상관성(P＞0.05).결론 MM최상견적기인이상시IGH기인중배이급RBI화D13S319결실,기차시1q21확증,p53결실최소.FISH가검측출여예후밀절상관적루급기인위점적미결실,이상극륭검출솔교상규세포유전학기술현저제고,FISH가작위MM환자적상규검사,이평고예후,지도림상치료.
Objective To explore the genetic abnormalities of multiple myeloma (MM) patients by fluorescence in situ hybridization (FISH).Methods With the application of FISH,sequence specific DNA probes (IGH,DI3S319/p53 and 1q21/RB1) were applied to detect 14q32 rearrangement,del(13q14),del (17p13) and gain of lq21.Forty-four MM patients were enrolled in this study.Results Thirty-two cases (72.7 ％) detected by FISH had genetic abnormality in 44 cases,lq21 amplification was observed in 11 cases (25.0 ％),while RB1 deletion in 17 cases (38.6 ％),D13S319 deletion in 16 cases (36.4 ％),p53 deletion in 6 cases (13.6 ％) and 14q32 translocation in 19 cases (43.2 ％).The patients with one abnormality was detected in 10 cases (22.7 ％),two abnormalities in 11 cases (25.0 ％),three abnormalities in 8 cases (18.2 ％),4 abnormalities in 3 cases (6.8 ％).28 were found to undergo split-phase by conventional cytogenetic in 44 patients.The patients with genetic abnormalities detected by conventional G-banding was 2 cases (7.14 ％),the difference with that in FISH was significant (P ＜0.05).Genetic abnormalities compared with clinical parameters showed that β2-MG in IGH gene abnormal patients were significantly higher than those without such abnormalities (P ＜0.05).Patients with bone marrow plasma cells of lq21 amplification were higher than those with normal karotypes(P ＜0.05),CRE was significantly higher among lq21 amplification and p53 deletion patients (P ＜0.05),CRP was significantly higher among p53 deletion patients (P ＜0.05).No significant difference was oberserved in relationship of the chromosome aberration and age,the chromosome aberration and stage.Conclusion The most common genetic abnormalities in MM is IGH rearrangement and absence of RB1 and D13S319,followed by lq21 amplification,the least is p53 deletion.FISH is a rapid and sensitive technique to refine chromosome aberrations in MM.The specific detection for genomic features of MM is proved to be correlative with its clinicopathologic characteristics and the prognosis.
