四川西昌地区原发性骨髓纤维化患者CALR、JAK2基因表达与预后的关系

Association between CALR,JAK2 gene expressions and prognosis in patients with primary myelofibrosis in Xichang,Sichuan

目的:研究四川西昌地区原发性骨髓纤维化患者CALR、JAK2基因突变与原发性骨髓纤维化(primary myelofibrosis,PMF)患者预后的关系。方法:选取2015年12月至2018年12月于西昌市人民医院接受治疗的PMF患者122例,分别检测CALR、JAK2基因的突变情况;根据CALR、JAK2基因的突变情况将患者分为CALR突变组30例,CALR正常组92例;JAK2突变组85例和JAK2正常组37例;分别比较各组患者血栓形成率、脾大发生率、白血病转化率;采用国际预后积分系统(International Prognostic Scoring System,IPSS)积分及动态国际预后积分系统(Dynamic International Prognostic Scoring System,DIPSS)积分评价各组预后。结果:CALR突变组血栓形成率和白血病转化率分别为16.67%和13.33%,CALR正常组为14.13%和9.79%;JAK2突变组血栓形成率和白血病转化率分别为20.00%和15.29%,JAK2正常组为13.51%和5.41%,差异均无统计学意义(均P>0.05);CALR突变组脾大发生率为63.33%,显著高于CALR正常组的27.17%,JAK2突变组脾大发生率为65.88%,显著高于JAK2正常组的21.62%,差异有统计学意义(P<0.05);CALR突变组IPSS积分和DIPSS积分均显著高于CALR正常组(P<0.05),JAK2突变组IPSS积分和DIPSS积分均显著高于JAK2正常组(P<0.05),且JAK2突变组IPSS积分和DIPSS积分均显著高于CALR突变组(P<0.05)。结论:四川西昌地区PMF患者CALR、JAK2基因突变者比CALR、JAK2基因未突变患者的预后差;相比JAK2基因突变,CALR基因突变的白血病转化率更低、预后较好。

Objective:To study the association between CALR,JAK2 gene mutations and prognosis of primary myelofibrosis(PMF)patients in Xichang,Sichuan.Methods:A total of 122 PMF patients treated in Xichang People’s Hospital from December 2015 to December 2018 were enrolled.The gene mutations of CALR and JAK2 were detected.According to the gene mutations of CALR and JAK2,they were divided into a CALR mutation group(30 cases)and a CALR normal group(92 cases),or a JAK2 mutation group(85 cases)and a JAK2 normal group(37 cases).The thrombosis rate,incidence of splenomegaly and conversion rate of leukemia were compared among all groups.The prognosis of patients in each group was assessed by the scores of International Prognostic Scoring System(IPSS)and Dynamic International Prognostic Scoring System(DIPSS).Results:The difference in thrombosis rate and conversion rate of leukemia between CALR mutation group and CALR normal group was not statistically significant(16.67%,13.33%vs 14.13%,9.79%)(P>0.05).The difference in thrombosis rate and conversion rate of leukemia between JAK2 mutation group and JAK2 normal group was not statistically significant(20.00%,15.29%vs 13.51%,5.41%)(P>0.05).The incidence of splenomegaly in CALR mutation group was significantly higher than that in CALR normal group(63.33%vs 27.17%),which was significantly higher in JAK2 mutation group than JAK2 normal group(65.88%vs 21.62%)(P<0.05).The scores of IPSS and DIPSS in CALR mutation group were significantly higher than those in CALR normal group(P<0.05),which were significantly higher in JAK2 mutation group than JAK2 normal group(P<0.05).The scores of IPSS and DIPSS in JAK2 mutation group were significantly higher than those in CALR mutation group(P<0.05).Conclusion:The prognosis in PMF patients with CALR and JAK2 gene mutations is worse than that without mutation in Xichang,Sichuan.Compared with JAK2 gene mutation,conversion rate of leukemia is lower and prognosis is better in patients with CALR gene mutation.