原创《Ph阴性MPN患者J*2、CALR或MPL基因突变检测临床分析》：关于免费基因突变论文范文在这里免费下载与阅读,为您的基因突变相关论文写作提供资料。
[摘 要] 目的 了解Ph陰性骨髓增殖性肿瘤（MPN）患者J*2、CALR或MPL基因突变情况及相关临床特症,加强对MPN疾病的认识.方法 回顾性分析2014年1月—2017年1月菏泽市立医院就诊的105例Ph阴性MPN患者的临床资料、实验室检查及治疗、预后情况.结果 105例 Ph阴性 MPN 患者中,中位发病年龄65岁,约半数患者无症状,大多首发以头痛、眩晕、疲乏、视力障碍、肢端麻木等神经症状、出血、血栓形成、腹痛、脾大等症状为主.39 例真性红细胞增多症（PV）患者中30例J*2V 617F 突变（突变率77%）,42 例原发性血小板增多症（ET）患者中22例J*2V617F 突变（突变率52%）,11例 CALR 突变（突变率26%）,1例MPL W515L/K突变（突变率2%）.24例原发性骨髓纤维化（PMF）患者中18例携带有 J*2 V617F 突变（突变率75%）.PV患者中,J*2 V617F野生型血小板、白细胞数低于J*2 V617F突变阳性者,差异有统计学意义（均P<0.05）； ET患者中J*2 V617F 突变阳性患者血红蛋白浓度、白细胞计数、血管事件发生率、危险度分层高于CALR突变阳性患者 （P<0.05）.MPN治疗主要包括：抗血栓治疗,放血疗法,细胞减少治疗.并发症主要为骨髓造血衰竭及血栓形成、出血等.结论 J*2 V617F、CALR、MPL突变基因检测对MPN诊断、分类及预后有直接影响.对于PV和PT,治疗主要是预防血栓、出血等并发症,减缓疾病的进展；PMF治疗目标是对生存影响的评估.
[关键词] 肿瘤性增殖；骨髓； 原发；基因；WHO
[中图分类号] R4 [文献标识码] A [文章编号] 1674-0742（2018）01（b）-0024-04
[Abstract] Objective To know the clinical related features of J*2, CALR or MPL genic mutation of negative Ph patients with MPN and enhance the awareness of MPN disease. Methods The clinical data, laboratory examination and treatment and prognosis of 105 cases of Ph negative MPN patients diagnosed in our hospital from January 2014 to January 2017 were retrospectively analyzed. Results Of 105 cases with Ph negative MPN patients, the median onset age was 65 years old, and about half of patients had no symptoms and the major symptoms of most patients were headache, dizziness, fatigue, vision disorder, acroanesthesia, bleeding, thrombosis, abdominal pain and splenomegaly, of 39 cases of PV patients, 30 cases were with J*2V617F mutation （mutation rate 77%）, of 42 cases of ET patients, 22 cases were with J*2 V617F mutation （mutation rate 52%）, 11 cases were with CALR mutation （mutation rate 26%）, 1 case was with MPL W515L/K mutation （ mutation rate 2%）, of 24 cases of PMF patients, 18 cases were with J*2 V617F mutation （mutation rate 75%）, of PV patients, the J*2 V617F wild type platelets and white blood cell count were lower than those of J*2 V617F mutation positive patients, and the differences were statistically significant（P<0.05）, of ET patients, the hemoglobin concentration, leucocyte count, incidence rate of vascular events and risk stratification of J*2 V617F mutation positive patients were higher than those of CALR mutation positive patients（P<0.05）, and the major MPN treatment included： antithrombosis therapy, bloodletting therapy and cytopenia therapy, and the major complications were bone marrow hematopoietic failure and thrombosis and hemorrhage. Conclusion The J*2 V617F, CALR, MPL mutation gene test has a direct effect on MPN diagnosis, classification and prognosis, and the treatment of PV and PT is to prevent the complications such as thrombosis and hemorrhage, relieve the progression of diseases and the PMF treatment goal is the evaluation of survival effect.
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