1号染色体克隆性异常在恶性血液病中的发生及其临床意义  

Genesis and clinic significance of chromosome 1 abnormality in hematologic malignancies

作　　者：吴蔚[1] 顾健[1] 王红[1] 马莉[1] 汪中强[1] 倪军[1] 

机构地区：[1]江苏省苏北人民医院扬州市血液学研究所实验室,225001

出　　处：《白血病．淋巴瘤》2012年第6期353-355,共3页Journal of Leukemia & Lymphoma

摘　　要：目的分析1号染色体克隆性异常在恶性血液病中的发生频率、类型，并了解其临床和生物学意义。方法对256例恶性血液病患者细胞遗传学R显带核型分析结果进行回顾性分析，将累及1号染色体的异常核型及临床资料进行总结，并结合文献复习。结果256例中涉及1号染色体异常的恶性血液病25例（9．8％），分别见于急性淋巴细胞白血病（ALL）-L2、急性非淋巴细胞白血病（ANLL）-M2、骨髓增生异常综全征（MDS）、多发性骨髓瘤（MM）、淋巴瘤骨髓浸润、慢性粒细胞加速急变期、浆细胞白血病、慢性粒单核细胞白血病。1号染色体与其他染色体之间易位11例，其中t（1；19）3例，t（1；14）2例，1号染色体部分增加或缺失7例，增加1条完整或部分缺失的1号染色体7例，1q等臂染色体3例。t（1；19）见于B淋巴细胞增殖性疾病，t（1；14）见于急性T淋巴细胞白血病。随访涉及1号染色体异常的20例患者，临床疗效差，生存期短。结论发生1号染色体克隆性异常的恶性血液病主要见于急性白血病、MDS、MM，非特异性的异常多见，特异性的异常主要是与其他染色体之间的易位和1q三体。具有重现性的异常有t（1；19）、t（1；14），均与白血病免疫表型相关；而1q三体和1q21扩增分别对MDS和MM的治疗、预后有指导意义。Objective To analyze the frequency, type of chromosome 1 clonal abnormalities in hematologic malignancies, and to understand the clinical and biological significance of its occurrence. Methods Retrospectively analyzed of 256 cases of patients with hematologic malignancies cytogenetic R banding karyotype analysis results. Summarized the abnormal chromosome1 karyotype and clinical data summary and combined with literature review. Results There were 25 samples with clonal disorder of chromosome 1 in 256 cases of patients with malignant hematologic disease, accounting for 9.8 percent of the total samples, including ALL-L2, ANLL-M2, MDS, MM, lymphoma with bone marrow involvement, CML with accelerated phase and blast crisis, plasma cell leukemia and chronic myelogenous monocytic leukemia. The types of the clonal disorder included chromosome 1 translocation with other chromosomes [including 3 cases with t（1;19）,and 2 cases with t（1;4）],there were 7 cases with chromosome 1 the increase or missing partly, and 7cases with increasing a full or partial deletion of chromosome 1, and also 3 cases with isochromosome of lq. t（1 ; 19） can be found in B lymphocyte proliferative diseases, while t（1;14） was found in T-ALL. The clinical efficacy and short survival were found in 20 patients with chromosome 1 clonal abnormalities. Conclusion Chromosome 1 clonal abnormalities in hematologic malignancies is common in acute leukemia, MDS, MM, and atypical abnormality is more than typical abnormality.It is common in chromosome 1 translocation with other chromosomes,lq-trisomy .The recurrent chromosome abnormalities is t （1;19） and t （1;14）, which is related with the leukemia immune phenotype .lq-triso/ny and amplification of lq21 is effective in the therapy and guide the prognosis of MDS and MM.

关 键 词：血液肿瘤 R显带 1号染色体 

分 类 号：R733[医药卫生—肿瘤]