31例12p染色体畸变血液病患者细胞遗传学和临床分析

为研究12p染色体异常的细胞遗传学和临床特点，收集临床病例并将患者骨髓细胞进行24小时短期培养后，按常规方法制备染色体标本，用G显带技术进行核型分析。结果表明：31例中12p平衡易位16例，12p缺失10例，add(12p)6例，inv(12)1例。按复杂核型分类法，16例12p易位中简单畸变6例，复杂畸变6例，高度复杂畸变4例。10例12p缺失以高度复杂畸变为主，计有7例，简单畸变仅1例。31例中急性白血病21例，骨髓增生异常综合征3例，慢性粒细胞白血病4例，慢粒急淋变、非霍奇金淋巴瘤骨髓浸润、多发性骨髓瘤各1例。有完整随访资料的患者14例，其中8例急性白血病患者仅进行常规化疗，3例获得完全缓解，该8例患者中位生存时间5．5月。结论12p染色体畸变累及多种血液系统恶性疾病，核型多为复杂畸变，病人缓解率低、生存时间短。

Cytogenetic and Clinical Characteristics in 31 Cases of Blood Diseases with Aberrations at Short Arm of Chromosome 12

To investigate the cytogenetic and clinical characteristics in patients with abnormalities at the short arm of chromosome 12, chromosome specimens were prepared by 24 hour culture of bone marrow cells and undergone karyotype analysis by G banding technique. The results showed that aberration at the short arm of chromosome 12 were detected in 16 cases with 12p balanced translocation, in 10 cases with 12p deletion, 6 cases with 12p addition, and in 1 case with inversion 12. By complex karyotype classification, 12p translocation included 6 simple aberrations, 6 complex aberrations, and 4 highly complex aberrations; while 12p deletion were mainly composed of highly complexity of aberration. Patients consisted of acute leukemia, myelodysplastic syndrome, chronic myelogenous leukemia and so on. Clinical follow up data were available in 14 patients, in which 8 cases of acute leukemia were treated with conventional chemotherapy only. Three of them attained complete remission, and the median survival time in 8 patients was 5.5 months. In conclusion, the aberrations at short arm of chromosome 12 were involved in a broad spectrum of haematological malignancies, and the karyotypes showed most complexity of aberration with low remission rate and short survival in clinic.