伴t(1;9;22)亚二倍体罕见核型异常慢性粒细胞白血病急变  

Clinical and Laboratory Study of a Case of Chronic Myelogenous Leukemia Blastic Transformation with Rare Hypodiploid t(1;9;22)

作　　者：周箭[1,2] 郭海鹰[1,2] 陈蓉[1,2] 郑琳[1,2] 王小渝[1,2] 

机构地区：[1]重庆医科大学附属成都第二临床学院 [2]成都市第三人民医院血液科,成都610031

出　　处：《华西医学》2011年第9期1290-1293,共4页West China Medical Journal

摘　　要：目的观察慢性粒细胞性白血病(chronic myelogenous leukemia,CML)急变(blast crisis,BC)患者罕见染色体异常的临床及实验室特点。方法 2010年2月1例患者因咳嗽和高热来我院就诊,采用常规方法检查患者骨髓细胞,应用R显带技术和荧光原位杂交技术分析骨髓细胞核型。结果患者具有CML-BC的典型临床及实验室特点,同时核型出现不典型t(1;9;22)合并亚二倍体罕见核型异常,临床表现病情进展快,对伊马替尼疗效差,生存期短。结论慢性粒细胞性白血病患者在急变期出现伴不典型Ph染色体的亚二倍体复杂核型为高危核型,此类患者可能存在对伊马替尼的耐药,如能取得血液学缓解应尽早接受异基因骨髓造血干细胞移植,争取获得长期疗效。Objective To report a case of chronic myelogenous leukemia （CML） blastic transformation into acute myelogenous leukemia with rare atypical hypodiploid t （1;9;22） complex chromosome abnormalities, and to analyze its clinical and laboratory characteristics. Methods A 47-year-old man was referred to our hospital due to cough and high fever in February 2010. We collected and analyzed the patient＇s clinical materials, and performed chromosomal karyotype analysis with R-banding and fluorescence in situ hybridization （FISH）. Results The patient demonstrated typical clinical and laboratory characteristics of blastic crisis of chronic myelogenous leukemia （CML-BC） and displayed rare atypical hypodiploid t（1;9; 22） complex chromosome abnormalities. Meanwhile, the disease was rapidly progressive, with poor response to imatinib and had short overall survival. Conclusions CML-BC patients with hypodiploidy complex chromosome abnormalities are in high risk. They may show drug-resistance to imatinib. Thus, for this type of patients, once the hematological remission is achieved, allogeneic stem cell transplant should be performed as soon as possible to get better opportunity for long-term survival.

关 键 词：慢性粒细胞性白血病 急变 核型 亚二倍体 

分 类 号：R733.7[医药卫生—肿瘤]