迁延26年原发性骨髓纤维化转化为急性巨核细胞白血病一例分析及文献复习

Acute megakaryocytic leukemia transformed from idiopathic myelofibrosis after 26 years： a case report and review

目的探讨原发性骨髓纤维化转化为急性巨核细胞白血病患者临床表现、实验室检查特点及骨髓纤维化的预后因素。方法对病程迁延26年原发性骨髓纤维化转化为急性巨核细胞白血病老年患者1例临床资料进行分析，转变前后进行骨髓细胞形态学、细胞遗传学及JAK2V617F点突变检测；使用标准去甲氧柔红霉素＋阿糖胞苷、高三尖杉酯碱＋阿糖胞苷、米托蒽醌＋阿糖胞苷等方案序贯治疗。结果转变前后检测患者JAK2V617F点突变均为阳性，染色体均为正常核型。先后予以标准去甲氧柔红霉素＋阿糖胞苷、米托蒽醌＋阿糖胞苷、高三尖杉酯碱＋阿糖胞苷、吡柔比星＋阿糖胞苷等方案序贯治疗达到完全缓解后，至今生存良好。结论染色体核型与骨髓纤维化的预后相关，核型正常的骨髓纤维化转变为M7经合理化疗后仍能达到完全缓解。

Objective To investigate the clinical data and laboratory features of acute megakaryocytic leukemia transformed from idiopathic myelofibrosis after 26 years in one case and the prognostic factors of myelofibrosis. Methods A case of acute megakaryocytic leukemia （M7） transformed from idiopathic myelofibrosis after 26 years was reported, and the clinical data was analyzed. Bone marrow cytology, cytogenetic and mutation detection in JAK2V617F were detected before and after transformation. Standard chemotherapeutic protocols including idarubicin plus cytarabine （ IDA）, homoharringtonine and cytarabine （ HA）, mitoxantrone and cytarabine （ MA）, pirarubicin plus cytarabine （TA） sequential therapies were performed. Results JAK2V617F mutation and normal karyotype were found before and after the transformation. This patient was treated with standard chemotherapeutic protocols of IDA, HA, MA and TA sequential therapies until getting complete remission, and he lived well till now. Conclusions Chromosome karyotype is related to the prognosis of IMF. Acute megakaryocytic leukemia （M7） with the normal karyotype transformed from the IMF can achieve complete remission by rational consecutive chemotherapy.