摘要
目的探讨快速、敏感、有效揭示11q23/MLL 基因重排的方法,确定11q23/MLL 异常在成人急性白血病(AL)中的发生情况及其临床特征,指导 AL 风险治疗。方法 112例成人 AL 患者骨髓细胞经24h 短期培养按常规方法制备染色体标本,R 显带行核型分析;LSI MLL 双色分离信号 DNA探针行间期荧光原位杂交(FISH)筛选异常信号,有异常信号者行中期 FISH 确定 11q23/MLL 基因重排。结果 112例 AL 患者 FISH 揭示9例11q23/MLL 易位(检出率8.0%),其中常规细胞遗传学分析(CCA)只检出4例(检出率3.6%)。3例 CCA 示 del(11)(q23)者 FISH 揭示2例为11q23/MLL 易位,1例为11号染色体长臂末端缺失。在1例正常核型、1例11q+和1例无11q23明显异常者,FISH 揭示为11q23/MLL 易位。除9例易位外,FISH 揭示8例存在 MLL 基因扩增,包括多倍体、均匀染色区(hsr)和双微染色体(dmin)。AL 伴11q23/MLL 异常者多诊断为 B 系祖细胞急性淋巴细胞白血病(pro-B ALL)、急性单核细胞白血病(AMoL)或急性双表型白血病(BAL)。结论使用 MLL 双色分离信号 DNA 探针行 FISH 确定11q23/MLL 异常是快速敏感的方法,其检出率高于 CCA,有效揭示11q23/MLL 易位和扩增。临床诊断 pro-B ALL、AMoL 或 BAL,尤其正常核型者应行 FISH 以确定11q23/MLL异常。
Objective To explore a rapid, sensitive and effective method for identifying 11q23/MLL gene rearrangements and investigate the incidence and clinical features of adult acute leukemia （AL） patients with 11q23/MLL abnormalities. Methods Bone marrow samples from 112 adult AL patients were prepared by short-term （24 hours） unstimulated culture, and karyotyped by R-banding. The abnormal signals were screened by interphase-fluorescence in situ hybridization （FISH） with dual-color break-apart 11q23/MLL-specific probe, and the 11q23/MLL gene rearrangements were determined by metaphase-FISH. Results Of the 112 patients,9 （8.0%） with 11q23/MLL translocations were revealed by FISH, among which only 4 （ 3.6% ） was revealed by CCA. Three patients were reported by CCA 1o have del（ 11 ） （ q23 ） , while by FISH assay two of them were 11 q23/MLL translocation and one was true deletion of 11 q23 telemoric terminus. Furthermore by FISH assay 11 q23/MLL transloeations were identified in one each patient with normal karyotype, with 11q ＋ and without overt 11q23 abnormality. Eight patients with MLL gene amplification including polysome, homogenous staining region （hsr） and double minute chromosome （dmin） were also disclosed by FISH. AL patients with 11 q23/MLL abnormalities were frequently diagnosed as pro-B acute lymphoblastic leukemia （pro-B ALL） , acute monocytic leukemia （AMoL） or biphenotypic acute leukemia （BAL）. Conclusion FISH with dual-color break-apart 11q23/MLL -specific probe is a rapid and sensitive method to delect 11 q23/MLL abnormalities, as compared with CCA. FISH also effectively discloses translocations and amplifications involving l lq23/MLL,and should be performed in patients diagnosed as pro-B ALL,AMoL or BAL, with CCA normal karyotype.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
2006年第10期682-686,共5页
Chinese Journal of Hematology
基金
天津市科技攻关项目(05YESZSF02400)
