伴Ph染色体阳性的急性早幼粒细胞白血病诊治反思

Thinking in Diagnosis and Treatment of Acute Promyelocytic Leukemia with Philadelphia Chromosome Positivity

目的探讨伴Ph染色体阳性急性早幼粒细胞白血病(acute promyelocytic leukemia,APL)的临床特征及诊治措施,以减少误诊误治。方法回顾性分析我院收治的1例骨髓形态、免疫组织化学及免疫表型极似急性粒单核细胞白血病且Ph染色体阳性APL的临床资料。结果本例因发热3周余就诊,根据骨髓形态学、免疫组织化学及免疫分型结果,初诊为急性粒单核细胞白血病,给予标准IDA方案(伊达比星加阿糖胞苷)化学治疗效果不佳。复查骨髓形态学并结合细胞遗传学检查,确诊为伴Ph染色体阳性APL,经维A酸(ATRA)联合三氧化二砷(ATO)治疗达完全缓解(CR),巩固治疗4个疗程。随访8个月仍处于CR,PML-RARA融合基因转阴,但BCR-ABL融合基因仍阳性。结论细胞遗传学检查应作为拟诊急性白血病患者的必要检查,可减少误诊,提高治疗效果。

Objective To explore the clinical features, diagnosis and treatment of acute promyelocytic leukemia （ APL） with philadelphia chromosome （ Ph） positivity in order to avoid misdiagnosis and mistreatment. Methods Clinical data of a patient with Ph-positive acute promyelocytic leukemia manifesting as acute myelomonocytic leukemia was retrospec-tively analyzed, and related literature was reviewed. Results The patient was admitted for fever over three weeks. Primary diagnosis was acute myelomonocytic leukemia after examinations of morphologic, immunophenotypic and histochemistry. But the standard IDA regimen was ineffective, which used idarubicin and cytarabine. APL with positive Ph was confirmed by cyto-genetics and morphologic studies. Complete remission was obtained after treatment with all-trans-retinoic acid （ ATRA） and arsenic trioxide （ ATO） . There was no evidence of recurrence for 8 months after 4 cycles of consolidation therapy. PML-RARA fusion gene was changed to be negative, but BCR-ABL fusion gene was still positive. Conclusion Cytogenetic examination for suspected acute leukemia patients is necessary to reduce misdiagnosis and improve the therapeutic effect.