原发性骨髓纤维化转急性髓系白血病一例并文献复习

 目的　提高对原发性骨髓纤维化（PMF）诊断、治疗及疾病转化的认识。方法　报告1例PMF转为急性髓性白血病（AML）的过程以及基因突变特点，并作相关文献复习。结果　患者符合WHO 2008年PMF诊断标准，自初诊至转化为AML共2.5年。疾病转化前后JAK2 V617F基因突变始终阳性，小剂量化疗疗效维持时间短。结论　PMF转化为AML后JAK2 V617F基因突变阳性，药物治疗难以控制病情进展。

The transformation of primary myelofibrosis into acute myeloid leukemia: a case report and review of literatures

Objective To improve the recognition of diagnosis, treatment and leukemia transformation of primary myelofibrosis (PMF). Methods One case with PMF which transformed into acute myeloid leukemia (AML) was reported and the literatures on this topic were reviewed. Results The patient was diagnosed according to the 2008 version of the WHO classification of PMF leukemia transformation was diagnosed after 2.5 years. The JAK2 V617F gene mutation was detectable both before and after leukemia transformation. The outcome of low dose chemotherapy could keep a short time. Conclusion JAK2 V617F gene could remain detectable after leukemia transformation in PMF patients. It is difficult to control the disease progress by low dose chemotherapy.