骨髓增生异常综合征转为急性嗜酸粒细胞白血病1例并文献复习

Acute eosinophilic leukemia transformed from myelodysplastic syndrome:a case report and literature review

目的观察急性嗜酸粒细胞白血病(AEL)的形态特征、遗传特征、免疫表型及分子标记特征以提高对AEL的认识。方法对我院收治的1例难治性血细胞减少伴多系发育异常(MDS-RCMD)转为AEL患者的病历资料进行回顾性总结并复习相关文献。结果该例MDS-RCMD患者12个月后转为AEL;骨髓原始细胞占10.4%,嗜酸粒细胞占70.8%,其中嗜酸性早、中、晚幼粒细胞占69.6%;外周血嗜酸粒细胞占13.5%;骨髓原始细胞伴有复杂染色体异常、CD34、CD117、HLD-DR、CD33、CD38、CD13等阳性表达;FI1L1/PDGFRα和ETV6/PDGFRα融合基因阴性。按AML治疗2个月后患者死亡。结论该例AEL患者FI1L1/PDGFRα和ETV6/PDGFRα基因重排阴性,伊马替尼治疗无效。

Objective To summarize and explore the morphological characteristics,genetic alterations,immunophenotype and characteristics of molecular marker of acute eosinophilic leukemia（ AEL）,and improve the awareness for AEL. Methods A case of refractory hematopoietic dysplasia（ MDS-RCMD） transformed to AEL in our hospital was retrospectively reviewed. Results The MDS-RCMD patient transformed to AEL in 12 months after diagnosis. In his special bone marrow 10. 4% was blasts,while 70. 8% of bone marrow cells were eosinophils including 69. 3% of promyelocyte,myelocyte and metamyelocyte. Eosinophils accounted for 13. 5% in his peripheral blood. The blasts in bone marrow expressed CD34,CD117,HLA-DR,CD33,CD38 and CD13,and accompanied by complex chromosomal abnormalities. FI1 L1/PDGFRα and ETV6/PDGFRβ fusion gene were negative. The patient died two months later following treating with AML regimen. Conclusion The AEL patient with negative FI1 L1/PDGFRα and ETV6/PDGFRβ gene rearrangement,imatinib treatment is ineffectual.