Objective: To analyze the disease types, clinical manifestations, efficacy and outcome of JAK2 V617F and BCR-ABL double-mutant myeloproliferative neoplasms (MPN), and provide a reference for the diagnosis, treatment and prognosis of MPN.
Methods: The clinical characteristics, diagnosis, therapeutic efficacy and outcome of JAK2 V617F and BCR-ABL double-mutant MPN were analyzed comprehensitively by combining a clinical case diagnosed and treated in our hospital with literature cases from CNKI and PubMed databases.
Results: A total of 38 related literatures were retrieved from the two databases by searching "JAK2 V617F" and "BCR-ABL" as key words from 1990 to 2019, and 59 cases were involved. Among all the 60 cases, 41 were males (68.3%) with a median age of 61 (32-77) years old, while 19 were females (31.7%) with a median age of 58 (21-82) years old. The BCR-ABL fusion gene and JAK2 V617F mutation were found simultaneously in 21 cases (35%), 19 cases (31.7%) with JAK2 V617F mutation were found during the treatment of Philadelphia chromosome (Ph)-positive chronic myelogenous leukemia (CML). Ph+CML was detectable in 20 cases (33.3%) during the treatment of JAK2 V617F mutation positive MPN. Polycythemia vera (PV) was the most common MPN coexisting with CML (30%), followed by essential thrombocythemia (ET) (26.7%) and primary myelofibrosis (PMF) (21.7%). In addition, there were 13 cases (21.7%) not classified in the literature. Among the 60 cases, 35 CML patients were clearly staged, including 31 in the chronic phase, 3 in the accelerated phase, and 1 in the blast crisis phase. As for the subtypes of BCR-ABL fusion gene, there were 30 cases with clear classification, including 28 cases of p210, 1 case of p190 and 1 case of p230.
Conclusion: As cases of BCR-ABL and JAK2 V617F double-mutant MPN are reported, simultaneous detection of JAK2 V617F mutation and BCR-ABL fusion gene in MPN patients is necessary to avoid misdiagnosis and missed diagnosis.
题目: JAK2 V617F突变和BCR-ABL融合基因双阳性骨髓增殖性肿瘤临床特征分析.
目的: 分析JAK2 V617F突变和BCR-ABL融合基因双阳性骨髓增殖性肿瘤（MPN）患者的疾病类型、临床表现、疗效及转归，为此类疾病患者的诊断、治疗、预后判断提供参考。.
方法: 结合于本院治疗的1例JAK2 V617F和BCR-ABL双阳性MPN患者及文献检索的资料，对JAK2 V617F突变和BCR-ABL融合基因双阳性MPN的临床特征、疗效和转归进行综合分析。.
结果: 本院收治患者为68岁女性。以"BCR-ABL"和"JAK2 V617F"为关键词在中国知网及PubMed数据库进行计算机文献检索，共检索出1990-2019年38篇相关文献，涉及59例患者。所有患者中，男性41例（68.3%），中位发病年龄为61（32-77）岁，女性19例（31.7%），中位发病年龄为58（21-82）岁。21例初诊时发现有BCR-ABL融合基因和JAK2 V617F突变(35%)，19例在费城染色体（Ph）阳性慢性粒细胞白血病（CML）治疗过程中发现存在JAK2 V617F突变（31.7%），20例存在JAK2 V617F突变的MPN患者在治疗过程中出现Ph+CML（33.3%）。真性红细胞增多症是最常见的与CML共存的MPN（30%）,其次是原发性血小板增多症（26.7%）和原发性骨髓纤维化（21.7%），另外有13例文献中未明确的MPN种类（21.7%）。60例患者中，CML明确分期的35例，其中慢性期31例，加速期3例，急变期1例。关于BCR-ABL融合基因的亚型，明确分型的30例，其中p210 28例，p190 1例，p230 1例。.
结论: BCR-ABL及JAK2 V617F双阳性MPN日益多发，有必要对MPN患者同时检测JAK2 V617F突变和BCR-ABL融合基因，以避免误诊漏诊。.