11q23异常恶性血液病的临床和细胞遗传学研究  

Cytogenetics and clinical studies of hematologic malignancies with 11q23 abnormalities in China

作　　者：过宇[1] 薛永权[1] 谢新[1] 吴德沛[1] 李建勇[1] 陆定伟 蒋复高 耿美菊 

机构地区：[1]江苏省苏州医学院附属第一医院 [2]解放军100医院 [3]国家核医学重点实验室

出　　处：《中华医学遗传学杂志》2000年第2期72-75,共4页Chinese Journal of Medical Genetics

摘　　要：目的　评估 11q2 3异常与恶性血液病的临床、血液学和预后的相互联系。方法　采用骨髓直接法和 (或 )培养法制备染色体标本 ,用 R显带技术 ,对 6 0 0 0例恶性血液病进行核型分析。结果　 6 0 0 0例恶性血液病中发现 2 8例有 11q2 3异常 ,发生率为 0 .47%。异常类型有 7种 :t(4;11) (q2 1;q2 3) 10例 ;t(11;19) (q2 3;p13) 5例 ;t(9;11) (p12 ;q2 3) 2例 ;t(10 ;11) (p15 ;q2 3) 2例 ;t(6 ;11) (q2 7;q2 3) 1例 ;del(11) (q2 3) 7例 ;t(11;?) (q2 3;?) 1例。疾病类型为急性髓细胞白血病 14例 (M2 a3例、M42例、M5 a1例、M5 b8例 ) ;急性淋巴细胞白血病 10例 ;骨髓增生异常综合征 3例 (RAEB1例、CMML 2例 ) ;恶性组织细胞增生症 1例。 10例 t(4;11)均为急性淋巴细胞白血病。随访的 2 2例患者总完全缓解率为 5 9.9% ,中数生存期为 113天。结论　 11q2 3异常主要见于急性单核细胞系白血病和急性淋巴细胞白血病患者 ,其预后不良 ,同时伴有额外变化和缺乏正常核型细胞均对预后有不利影响 ,因而构成一种独特的临床 -细胞遗传学联系。Objective To evaluate the association between 11q23 abnormalities and the clinical, hematologic, prognostic aspects of hematologic malignancies. Methods A total of 6000 cases of hematologic malignancies from our hospital and near regions in China were investigated between October 1985 and November 1998. Chromosome preparations were made on bone marrow cells by using direct method and/or unstimulated short term cultures. Karyotypes were analyzed by R banding technique and expressed according to ISCN(1995). Results 11q23 abnormalities were found in 28 of 6000 cases with hematologic malignancies (0.47%).It may be separated into seven cytogenetic categories: t(4;11)(q21;q23)(ten cases),t(11;19)(q23;p13)(five cases),t(9;11)(p12;q23)(two cases), t(10;11)(p15;q23)(two cases),t(6;11)(q27;q23)(one case), del(11)(q23)(seven cases), and t(11;?)(q23;?)(one case).The diagnoses included acute myeloid leukemia in 14 cases (M 2a ,three; M 4,two; M 5a , one; M 5b , eight),acute lymphoblastic leukemia(ALL) in 10 cases,myelodysplastic syndrome in three cases and malignant histiocytosis in one case. All 10 cases with t(4;11) anomaly were ALL. Follow up data were available for 22 of them. Their median survival was 113 days. The patients may be grouped according to the presence or absence of additional abnormalities and/or normal karyotype. The median survival was 75 days for five patients with 11q23 anomaly only, 18 days for two patients with 11q23 and additional abnormalities, 135 days for 10 patients with 11q23 anomaly, additional abnormalities and normal karyotype,and 150 days for 5 patients with 11q23 anomaly and normal karyotype. Conclusion 11q23 abnormalities were mainly seen in ALL and acute monocytic leukemia. Their prognosis was very poor. Both additional abnormalities and lack of normal karyotype had adverse effects on the survival of patients. Thus, they represent a unique clinical cytogenetic association.

关 键 词：恶性血液病 白血病 AML ALL 细胞遗传学 预后 

分 类 号：R733[医药卫生—肿瘤]