慢性粒细胞白血病的骨髓染色体核型分析及其临床意义

Chromosome karyotype analysis in chronic myelogenous leukemia cases and their clinical significance

目的探讨慢性粒细胞白血病(CML)患者骨髓染色体核型分析的临床意义。方法选取2013年—2016年在本院血液科诊治的CML住院患者109例,包括男性69例、女性40例,其中慢性期89例、加速期18例、急变期2例;采取患者骨髓标本行细胞短期培养,染色体标本制备包括骨髓标本的预处理、接种、培养、中期染色体的收获和制片以及采用G-显带技术显带,最后做核型分析。结果本组CML患者携带异常染色体核型的比例为100%(109/109);其中含特征性染色体重排t(9;22)(q34;q11)占比90.82%(99/109),复杂变异型t(9;15;22)(q34;q15;q11)占7.34%(8/109);同时合并染色体数量异常者占16.51%(18/109)、合并染色体部分缺失型2.75%(3/109)、单纯性数目异常1.83%(2/109)。加速期和急变期患者的染色体异常主要表现为特征性染色体重排合并数目异常。结论 CML患者无论治疗前后,定期做细胞遗传学染色体核型分析有益于为其疾病的诊断、病情发展和预后提供重要信息。CML患者在t(9;22)(q34;q11)基础上发生附加的染色体数目异常,与CML患者病程发展和预后密切相关。

Objective To analyze the cytogenetic characteristics of chronic myelogenous leukemia(CML) patients in different phases and explore the clinical significance in these chromosome abnormalities. Methods A cohort of 109 CML patients(69 males, 40 females) submitted to our hospital from 2010 to 2016 were studied. Among these cases, 89 were in chronic phase, 18 in acceleration phase, and 2 in blastic phase. Chromosome specimens were prepared by short-term culture of bone marrow cells. Karyotype analysis was performed on the specimens using standard G banding procedures. Results All CML cases showed abnormal karyotypes. Among 109 cases, the frequency of cases with t(9;22)(q34;q11) was 90.82%(99/109)and of those with t(9;15;22)(q34;q15;q11) was 7.34%(8/109). The frequency of cases with t(9;22)(q34;q11) accompanied with numerical chromosome abnormalities and structural chromosome abnormalities was 16.51%(18/109) and 2.75%(3/109), respectively. The remaining two cases showed pure numerical chromosome abnormalities(1.83%, 2/109). Moreover, patients in acceleration phase and blastic phase mainly showed t(9;22)(q34;q11) accompanied by numerical chromosome abnormalities. Conclusion Chromosome karyotype analysis is necessary for diagnosis, evolution and prognosis of CML patients. Abnormal chromosome karyotypes with t(9;22)(q34;q11) accompanied with numerical chromosome abnormalities(+8,+21,-7) may be associated with disease evolution and prognosis of CML.