m-bcr/abl融合基因型慢性粒细胞性白血病临床和实验室研究

Experimental study on chronic myeloid leukemia expressing m-bcr/abl fusion transcripts

目的研究2例表达m型(e1a2)bcr/abl融合基因慢性期慢性粒细胞性白血病(CML-CP)患者的临床及实验室特征。方法患者骨髓细胞分别用R带技术进行染色体核型分析,流式细胞术进行免疫分型,RT-PCR进行bcr/abl融合基因检测,治疗采用羟基脲、阿糖胞苷或羟基脲、HA(高三尖杉酯硷,阿糖胞苷)及干扰素方案。结果2例患者染色体核型均为:46,XY,t(9;22)(q34;q11);免疫分型:CD13、CD15、CD33阳性,其中例2同时表达CD10抗原(34.35%);RT-PCR分析例1初诊时M型bcr/abl融合基因阳性(b3a2),治疗后M型bcr/abl转阴而m型bcr/abl(e1a2)阳性,例2初诊时即为M型bcr/abl融合基因阴性而m型bcr/abl(e1a2)阳性;两例患者骨髓像及临床均表现为慢性期,但例2外周血白细胞计数增高不显著(15～47×109/L),脾脏不肿大。结论m-bcr/ablCML是罕见的CML分子亚型,具独特的临床和实验室特征,其发现对于临床诊断和生物学研究具有重要的意义。

objective To investigate the clinical and experimental characteristics in two cases of chronic myeloid leukemia（CML） expressing m-bcr/abl fusion transcripts. Methods Bone marrow samples from two patients with CML were been done chromosome analysis with R-banding technique, immunophenotynic test with flow cytometry and bcr/abl fusion transcrine with RT-PCR, respectively. Two patients were treated by hydroxyurea（Hu）, Ara-c or Hu, ttA, interferon alfa-2b. Results The chromosome analyses showed a Karyotype of 46XY, t（9;22）（q34;qll）; Immunophenotypy was positive for CD13, CD15 and CD33, one case also expressed the antigen of CD10（34.3%）. RT-PCR study suggested that the first patient expressed M-bcr/abl fusion transcripts （b3a2） at primary stage, but the M-bcr/abl turned negative and the m-bcr/abl turned positive after curing, while the second one didn＇t express M-bcr/abl but expressed the m-bcr/abl at primary stage. Conclusions The m-bcr/abl is a rare molecular subtype of CML, having uniquely clinical and experimental characteristics, and is important significance for clinical diagnosis and biological investigation.