骨髓增生异常综合征转化的急性红白血病出现Ph染色体1例及文献复习

One case of acute erythroleukemia evolved from myelodysplastic syndrome presenting as positive Philadelphia chromosome and review of the literature

目的:介绍1例骨髓增生异常综合征(MDS)转化的急性红白血病患者,复发后出现了Ph染色体及BCR-ABL融合基因。方法:对1例20岁的男性MDS-RAEB2患者进行持续细胞形态学、遗传学及分子生物学监测。结果:患者转化为急性红白血病(M6型),染色体正常男性核型,RT-PCR阴性,诱导缓解后短时间内复发,再诱导缓解后定期巩固治疗,1年后第2次复发,再诱导化疗未缓解,染色体46,XY,t(9,22),BCR-ABL融合基因阳性。结论:极少数情况下,MDS患者在疾病进展中会出现Ph染色体。

Objective：The Ph chromosome is found in the majority of CML cases,in approximately 15%~33% adult acute lymphoblastic leukemia,and in 2% acute myeloblastic leukemia cases.In MDS,however,the Ph chromosome is rarely involved.We describe a patient with acute erythroleukemia evolved from myelodysplastic syndrome（MDS） and the presenting as positive Philadelphia chromosome（Ph） after relapse.Method：The patient was a 20-year-old man who was diagnosed as refractory anemia with excess of blasts.Result：MDS progressed to acute erythrocytic leukemia later and chromosome analysis showed normal karyotypes.The karyotypes at second relapse showed： 46,XY,t（9,22） / and BCR-ABL fusion gene were positively detected by RT-PCR.Conclusion：Philadelphia chromosome and BCR-ABL fusion gene might be involved in the progression of MDS in some very rare cases.