BCR-ABL阴性骨髓增殖性肿瘤患者JAK2、CALR、MPL基因突变的临床分析
Clinical characteristics of JAK2, CALR and MPL gene mutations in BCR ABL negative myeloproliferative neoplasms patients

邢学仰.BCR-ABL阴性骨髓增殖性肿瘤患者JAK2、CALR、MPL基因突变的临床分析[J].内科急危重症杂志,2019,25(2):98-102

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DOI：10.11768/nkjwzzzz20190203

中文关键词: 骨髓增殖性肿瘤 JAK2V617F突变 CALR突变 MPL突变

英文关键词:

基金项目:汕头市科技计划项目（汕府科\[2017\]119号）

作者	单位	E-mail
邢学仰	汕头大学医学院第一附属医院	suyzst@126.com

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中文摘要:

目的:研究BCR-ABL阴性骨髓增殖性肿瘤（MPN)患者JAK2V617F、CALR及MPL基因突变情况，并比较不同类型基因突变及突变均阴性患者部分临床参数的差异。方法:收集227例BCR-ABL阴性 MPN患者各类型基因突变情况、相关检验结果及影像学检查。结果:JAK2V617F突变总检出率、CALR基因突变总检出率、MPL基因突变总检出率分别为71.4%，11.0%，2.6%。真性红细胞增多症(PV)患者中未检测到CALR、MPL基因突变。有1例原发性血小板增多症（ET）患者有两种基因突变共存（JAK2V617F+，CALR+）。在PV患者中，JAK2V617F突变阳性组年龄、白细胞计数、血小板计数、脾肿大发生率均高于JAK2V617F突变阴性组（均P<0.05)。在ET患者中，JAK2V617F突变阳性组年龄、白细胞计数、血红蛋白浓度均高于CALR突变阳性组及3种基因突变均阴性组，脾肿大及血栓发生率高于CALR突变阳性组；而与MPL突变阳性组相比，仅表现为血红蛋白浓度增高(P<0.05)。在原发性骨髓纤维化（PMF）患者中，仅发现JAK2V617F突变阳性组白细胞计数高于CALR突变阳性组。结论：不同MPN亚型基因突变的发生频率、分布、血栓形成风险不同，导致独特的临床表征。CALR阳性患者较JAK2V617F阳性患者更年轻、骨髓增殖水平更低、血栓事件风险更低，这提示危险分层更低、预后较好。这为MPN的诊断及个体化治疗提供证据。

英文摘要:

Objective: To study the JAK2,CALR and MPL gene mutations in patients with BCR-ABL-negative myeloproliferative neoplasms (MPN), and to compare their clinical characteristics of different types of gene mutations and negative gene mutations. Methods: All types of gene mutations in BCR-ABL-negative MPN patients were collected, including the related laboratory and imaging findings. Results: The total detection rate of JAK2V617F, CALR and MPL mutations was 71.4%, 11.0% and 2.6% respectively. CALR and MPL genes were not found in polycythaemia vera (PV) patients and two gene mutations (JAK2V617F, CALR) coexisted in one essential thrombocythaemia (ET) patient. In PV patients, the age was older, leukocyte counts and platelet counts were greater, and the incidence of splenomegaly was higher in JAK2V617F mutation positive group than in JAK2V617F mutation negative group (all P<0.05). There was no significant difference in hemoglobin level and incidence of thrombotic events between two groups (P>0.05). In ET patients, the age was older, white blood cell counts were greater, and the level of hemoglobin was higher in JAK2V617F mutation positive group than in CALR mutation positive group and all negative groups, and the incidence of splenomegaly and thrombotic events in JAK2V617F mutation positive group was higher than in CALR mutation positive group. As compared with the MPL mutation positive group, the hemoglobin level was increased in JAK2V617F mutation positive group (P<0.05). In PMF patients, the leukocyte counts were greater in JAK2V617F mutation positive group than in CALR mutation positive group. Conclusion: Different subtypes of MPNs had different profiles of drivers gene mutations, leading to the unique clinical characteristics. CALR-positive patients were younger than JAK2V617F-positive patients, and the bone marrow proliferation level and the risk of thrombus events were also lower, which suggested that the risk stratification is lower and the prognosis is better.