Yan Jiao, Ding Ya-Wen, Wang Peng-Yu, Wu Yi-Peng, Zhang Hui-Chao, Liu Li-Hong
Department of Hematology,The Fourth Hospital of Hebei Medical University, Shijiazhuang 050011, Hebei Province, China.
Cinical Laboratory, The Fourth Hospital of Hebei Medical University, Shijiazhuang 050011, Hebei Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2021 Oct;29(5):1540-1547. doi: 10.19746/j.cnki.issn.1009-2137.2021.05.026.
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.
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.
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). PhCML 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.
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.
分析JAK2 V617F和BCR-ABL双突变骨髓增殖性肿瘤（MPN）的疾病类型、临床表现、疗效及转归，为MPN的诊断、治疗及预后提供参考。
结合我院诊治的1例临床病例及中国知网（CNKI）和PubMed数据库中的文献病例，综合分析JAK2 V617F和BCR-ABL双突变MPN的临床特征、诊断、治疗效果及转归。
以“JAK2 V617F”和“BCR-ABL”为关键词，检索1990年至2019年两个数据库，共检索到38篇相关文献，涉及59例病例。60例患者中，男性41例（68.3%），中位年龄61（32 - 77）岁；女性19例（31.7%），中位年龄58（21 - 82）岁。21例（35%）同时检测到BCR-ABL融合基因和JAK2 V617F突变；19例（31.7%）在费城染色体（Ph）阳性慢性髓性白血病（CML）治疗过程中发现JAK2 V617F突变。20例（33.3%）在JAK2 V617F突变阳性MPN治疗过程中检测到PhCML。真性红细胞增多症（PV）是与CML共存最常见的MPN（30%），其次是原发性血小板增多症（ET）（26.7%）和原发性骨髓纤维化（PMF）（21.7%）。此外，有13例（21.7%）在文献中未分类。60例患者中，35例CML患者分期明确，其中慢性期31例，加速期3例，急变期1例。BCR-ABL融合基因亚型明确分类的有30例，其中p210型28例，p190型1例，p230型1例。
随着BCR-ABL与JAK2 V617F双突变MPN病例的报道，对MPN患者同时检测JAK2 V617F突变和BCR-ABL融合基因很有必要，以避免误诊和漏诊。
