APL伴嗜碱性粒细胞明显增多1例并文献复习

Acute promyelocytic leukemia with significantly increased basophils:a case report and literature review

目的探讨急性早幼粒细胞白血病(APL)伴嗜碱性粒细胞增多患者的诊断、治疗及预后。方法回顾性分析该院收治的1例APL伴嗜碱性粒细胞增多患者的临床资料,并对相关文献进行复习。结果该患者以全血细胞减少入院,血常规显示白细胞计数(WBC)1.69×109/L、红细胞计数(RBC)1.98×1012/L、血红蛋白(Hb)70 g/L、血小板计数(PLT)20×109/L、中性粒细胞(NEU)33.20%,淋巴细胞49.70%,单核细胞11.00%,嗜碱性粒细胞5.30%。凝血相关检查结果显示,D-二聚体(D-Di)18.23 mg/L、纤维蛋白降解产物(FDP)70.20 mg/L,纤维蛋白原(Fib)3.72 g/L。骨髓细胞形态及细胞化学染色显示粒系异常增生,以异常早幼粒细胞为主(46.00%),可见蝴蝶型核,内外浆,偶见柴捆Auer小体,嗜碱性粒细胞明显增多(28.00%);外周血分类异常早幼粒细胞占35.00%,嗜碱性粒细胞占27.00%;过氧化物酶(POX)染色异常早幼粒细胞呈强阳性,嗜碱性粒细胞呈阴性。流式细胞仪检测显示异常表型的早幼粒细胞占全部细胞的56.00%,该群细胞表达CD13、CD33、CD64,部分表达人类白细胞抗原DR(HLA-DR)、CD15dim、CD117、CD56、CD34。染色体核型分析显示异常核型46,XY,t(15;17)(q24;q21)/46,idem,der(12),可见克隆性异常t(15;17),荧光原位杂交(FISH)检测早幼粒细胞白血病-视黄酸受体α(PML-RARα)融合基因阳性,伴融合基因阳性的间期核占78.00%;ASXL1突变频率为46.80%,组蛋白-赖氨酸N-甲基转移酶(KMT2D)突变频率为51.70%。诊断为APL伴嗜碱性粒细胞数量增多,予以亚砷酸、视黄酸及柔红霉素等治疗,至今患者骨髓完全缓解及PML/RARα融合基因持续阴性达11个月。结论伴嗜碱性粒细胞增多的APL的诊断需结合多项实验室检查,本病例中嗜碱性粒细胞可能是从伴t(15;17)易位的早幼粒细胞分化而来,并且与染色体异常相关。

Objective To investigate the diagnosis,treatment and prognosis of acute promyelocytic leukemia(APL)with basophilia increase.Methods One patient with APL complicating basophilia admitted in this hospital was retrospectively analyzed and the relevant literatures were reviewed.Results The patient was admitted to the hospital due to pancytopenia,the blood routine showed WBC 1.69×109/L,RBC count 1.98×1012/L,Hb 70 g/L,PLT count 20×109/L,neutrophils 33.20%,lymphocytes 49.70%,monocytes 11.00%and basophils 5.30%.The coagulation related detection results showed D-dimer(D-Di)18.23 mg/L,FDP 70.20 mg/L and Fib 3.72 g/L.The bone marrow cellular morphology/histochemical staining showed the abnormal proliferation of granulocyte system,which was dominated by abnormal promyelocytes(46.00%),the butterfly type,internal and external cytoplasm could be seen,the faggot Auer body was occasionally seen,the basophilic granulocytes were significantly increased(28.00%);the peripheral blood classification was abnormal,promyelocytes accounted for 35.00%and basophilic granulocytes accounted for 27.00%;the POX staining abnormal promyelocytes showed the strongly positive,and basophilis showed negative.The flow cytometry detection results showed that the abnormal phenotype promyelocytes accounted for 56%of whole cells,this group of cells expressed CD13,CD33 and CD 64,and partially expressed HLA-DR,CD15dim,CD117,CD 56 and CD34.The chromosome karyotyping analysis showed abnormal karyotype 46,XY,t(15;17)(q24;q21)/46,idem,der(12),the clone abnormal t(15;17)could be seen.The fluorescence in situ hybridization(FISH)detection showed that PML-RARαfusion gene positive,the interphse nucleus with fusion gene positive accounted for 78.00%;ASXL1 mutation frequency was 46.80%,KMT2D mutation frequency was 51.70%.This patient was diagnosed as APL complicating basophilia and treated by arsenious acid,retinoic acid,daunorubicin,etc.This patient had complete bone marrow remission until now and the PML/RARαfusion gene was persistently negative for 11 months.Conclusion The diagnosis of APL with basophilia increase needs to be combined with multiple laboratory tests.In this case,basophils may be differentiated from promyelocytic cells with t(15;17)translocation,moreover which is correlated to chromosome abnormalities.