Objective: To explore the clinical and laboratory characteristics of SF3B1 gene mutations in myeloproliferative neoplasms (MPN) patients. Methods: The clinical data of 273 MPN patients who were diagnosed MPN and treated in the Second Hospital of Tianjin Medical University from November 2017 to March 2023 were retrospectively analyzed. There were 133 males and 140 females, with a median age M(Q1,Q3)of 56(46, 67) years. The molecular biology and cytogenetic characteristics were detected by second-generation sequencing (NGS) and R+G banding techniques, and the clinical and laboratory characteristics of patients with SF3B1 gene mutation were analyzed. Results: SF3B1 gene mutations were found in 13 patients (4.8%, 13/273).The types of SF3B1 mutations included missense (92.3%, 12/13) and nonsense mutations (7.7%, 1/13).Compared to the non-mutant cohort, patients in SF3B1 mutant cohort had older ages [68(51, 76) vs 56(45, 66)years,P=0.025], higher proportion of splenomegaly [46.2%(6/13) vs 15.8%(41/259),P=0.014]and secondary tumor [23.1%(3/13)vs 3.8%(10/260), P=0.018]with higher proportion of bone marrow blast [0.5%(0, 1.5%) vs 0(0, 0.5%),P=0.002] and lower hemoglobin[(104±36) vs (137±40) g/L,P=0.004] and hematocrit [31%(22%, 40%) vs 41%(35%, 52%),P=0.003]. All of the 10 patients in the SF3B1 mutant cohort whose ring sideroblast (RS) could be evaluated showed no RS formation. The overall survival, thrombosis-free survival and leukemia free survival of MPN patients in SF3B1 mutant cohort were 4.0 (2.0, 6.0), 2.0 (0.5, 4.5) and 4.0 (2.0, 6.0) years, respectively, while patients in the non-mutant cohort were 6.0 (3.0, 10.0), 5.0 (1.0, 8.0), 6.0 (3.0, 10.0) years, respectively, there were no statistical significance between two groups (Z=3.69, 1.66, 2.05, all P>0.05).The secondary tumor free survival of SF3B1 mutant cohort patients was 4.0 (2.0, 6.0) years, which was lower than that of non-mutant cohort patients [5.5 (3.0, 10.0) years, Z=18.18, P<0.001). Conclusions: MPN patients with SF3B1 gene mutations are older, more prone to splenomegaly and secondary tumors. They also have a higher proportion of bone marrow blast, lower hemoglobin and hematocrit, and show no RS formation.
目的： 探讨伴SF3B1基因突变骨髓增殖性肿瘤（MPN）患者的临床与实验室特征。 方法： 回顾性分析2017年11月至2023年3月天津医科大学第二医院273例MPN患者临床资料，其中男133例，女140例，年龄M（Q1，Q3）为56（46，67）岁。采用二代测序技术、R+G显带技术检测MPN患者分子生物学及细胞遗传学特征，分析SF3B1基因突变患者的临床与实验室特征。 结果： 共13例（4.8%，13/273）患者检测出SF3B1基因突变。SF3B1突变类型包括错义突变12例（92.3%，12/13）、无义突变1例（7.7%，1/13）。与非突变组比较，SF3B1突变组年龄较大［68（51，76）比56（45，66）岁，P=0.025］，脾大比例［46.2%（6/13）比15.8%（41/259），P=0.014］、出现第二肿瘤比例［23.1%（3/13）比3.8%（10/260），P=0.018］、骨髓形态学原始细胞比例［0.5%（0，1.5%）比0（0，0.5%），P=0.002］均较高，而血红蛋白［（104±36）比（137±40）g/L，P=0.004］及红细胞压积［31%（22%，40%）比41%（35%，52%），P=0.003］均较低。SF3B1突变组可评估环形铁粒幼细胞（RS）的10例患者均无RS生成。SF3B1突变组MPN患者总生存期、无血栓生存期、无白血病生存期分别为4.0（2.0，6.0）、2.0（0.5，4.5）、4.0（2.0，6.0）年，非突变组患者分别为6.0（3.0，10.0）、5.0（1.0，8.0）、6.0（3.0，10.0）年，差异均无统计学意义（Z=3.69、1.66、2.05，均P>0.05）。SF3B1突变组患者无第二肿瘤生存期为4.0（2.0，6.0）年，低于非突变组患者的5.5（3.0，10.0）年，差异有统计学意义（Z=18.18，P<0.001）。 结论： SF3B1基因突变MPN患者年龄较大，易发生脾大和第二肿瘤，骨髓原始细胞比例较高，血红蛋白及红细胞压积较低，无RS生成。.