Zhao Xi-chen, Li Cheng-wen, Dai Yun, Liu Xu-ping, Qin Shuang, Liu Shi-he, Mi Ying-chang, Wang Jian-xiang
Institute of Hematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
Zhonghua Xue Ye Xue Za Zhi. 2006 Oct;27(10):682-6.
To explore a rapid, sensitive and effective method for identifying 11 q23/MLL gene rearrangements and investigate the incidence and clinical features of adult acute leukemia (AL) patients with 11 q23/MLL abnormalities.
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 11 q23/MLL-specific probe, and the 11 q23/MLL gene rearrangements were determined by metaphase-FISH.
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 to have del( 11) ( q23) , while by FISH assay two of them were 11 q23/MLL translocation and one was true deletion of I lq23 telomeric terminus. Furthermore by FISH assay II q23/MLL translocations were identified in one each patient with normal karyotype, with 11 q + and without overt 11 q23 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).
FISH with dual-color break-apart I q23/MLL -specific probe is a rapid and sensitive method to detect 11 q23/MLL abnormalities, as compared with CCA. FISH also effectively discloses translocations and amplifications involving 11 q23/MLL,and should be performed in patients diagnosed as pro-B ALL,AMoL or BAL, with CCA normal karyotype.
探索一种快速、灵敏且有效的方法来鉴定11q23/MLL基因重排，并研究伴有11q23/MLL异常的成人急性白血病（AL）患者的发病率及临床特征。
对112例成人AL患者的骨髓样本进行短期（24小时）非刺激培养，并采用R显带技术进行核型分析。使用双色分离型11q23/MLL特异性探针通过间期荧光原位杂交（FISH）筛选异常信号，通过中期FISH确定11q23/MLL基因重排。
112例患者中，FISH检测发现9例（8.0%）存在11q23/MLL易位，其中细胞遗传学分析（CCA）仅检测出4例（3.6%）。CCA报告3例患者存在del(11)(q23)，而FISH检测显示其中2例为11q23/MLL易位，1例为11q23端粒末端真正缺失。此外，FISH检测还在1例核型正常、1例11q+且无明显11q23异常的患者中分别鉴定出11q23/MLL易位。FISH还发现8例患者存在MLL基因扩增，包括多核糖体、均匀染色区（hsr）和双微体染色体（dmin）。伴有11q23/MLL异常的AL患者常被诊断为前B细胞急性淋巴细胞白血病（前B-ALL）、急性单核细胞白血病（AMoL）或双表型急性白血病（BAL）。
与CCA相比，使用双色分离型11q23/MLL特异性探针的FISH是检测11q23/MLL异常的快速、灵敏方法。FISH还能有效揭示涉及11q23/MLL的易位和扩增，对于诊断为前B-ALL、AMoL或BAL且CCA核型正常的患者应进行FISH检测。
