Objective To report clinical and laboratory features of a rare case who was primary myelofibrosis (PMF) with positive JAK2 V617F terminating in T-acute lymphoblastic leukemia (T-ALL).Methods A rare case of PMF terminating in ALL was found, the quantity and quality of JAK2 gene mutation were defined by PCR methods, collected the clinical dates. Results The JAK2 V617F gene mutations were all positive pre and post-blast, the mutant rates respectively were 71.21% and 83.56 %. The interval from PMF to leukemia was 22 months, and from leukemia to death was 27 days. Conclusion PMF with positive JAK2 V617F terminating in ALL is a rare case, clinical prognosis is poor and survival time is short.%目的 报道1例罕见的JAK2 V617F基因突变阳性原发性骨髓纤维化(PMF)患者转白血病前后的临床及实验室特征.方法 发现1例PMF转T系急性淋巴细胞白血病(T-ALL)的患者,PCR方法检测患者转白血病前后的JAK2基因突变并进行定量检测,采集患者临床各指标.结果 患者转白血病前后均为JAK2 V617F基因突变阳性,突变率分别为71.21%、83.56%.患者从诊断为PMF到转白血病的时间为22个月,转白血病到死亡的时间为27 d.结论 JAK2V617F基因突变阳性的PMF转为T-ALL为罕见病例,临床预后差,生存时间短.
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