Objective: To analyze the mutation characteristics of myeloproliferative neoplasm (MPN) patients with Fanconi anemia (FA) signaling pathway gene mutation. Methods: MPN patients with FA signaling pathway gene mutations (mutation group) diagnosed in the Second Hospital of Tianjin Medical University from September 2017 to October 2024 were retrospectively included. MPN patients without FA signaling pathway gene mutations (non-mutation group) were included by propensity score matching (1∶6 pairing). The patients were followed up to January 31, 2025. The clinical characteristics of the both groups were compared, and the influencing factors of survival time of MPN patients were analyzed by multivariate Cox regression model. Results: There were 22 patients in the mutation group, 8 males and 14 females, with an age [M (Q1, Q3)] of 65 (30, 81) years, including 6, 10 and 6 patients with polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF), respectively; PV patients had the highest proportion of both BRCA2 and FANCD2 mutations (both are 2/6), ET patients had the highest proportion of BRCA2 mutations (3/10), and PMF patients had the highest proportion of FANCD2 mutations (4/6). There were 132 patients in the non-mutation group, 48 males and 84 females, aged 65 (32, 85) years. The proportions of splenomegaly [45.5% (10/22) vs 14.4% (19/132)], secondary myelofibrosis [27.3% (6/22) vs 9.8% (13/132)], secondary myelodysplastic syndrome (MDS) [4.5% (1/22) vs 0], and secondary acute myeloid leukemia (AML) patients [4.5 (1/22) vs 0] in the mutation group were higher than those in the non-mutation group (all P<0.05); There were no statistica differences in age, sex, initial blood routine hemoglobin, hematocrit, white blood cell count, platelet count, chromosome karyotype abnormalities, thrombosis, secondary cancer, and the proportion of deceased patients between the two groups (all P>0.05). The median follow-up time was 4 (2, 9) years. The 10-year overall survival rate of the mutation group was lower than that of the non-mutation group (82.4% vs 96.2%, P=0.037). FA signaling pathway gene mutation (HR=2.646, 95%CI: 0.316-22.178, P=0.017) was the influencing factor of survival time of MPN patients. Conclusions: The common FA signaling pathway gene mutations in MPN patients are BRCA2, FANCD2; FA signaling pathway gene mutation is an influencing factor for survival of MPN patients. 目的： 分析伴范可尼贫血（FA）信号通路基因突变骨髓增殖性肿瘤（MPN）患者突变特征及预后的影响因素。 方法： 回顾性纳入2017年9月至2024年10月于天津医科大学第二医院诊断为伴FA信号通路基因突变的MPN患者（突变组），使用倾向性评分匹配（1∶6配对）纳入不伴FA信号通路基因突变的MPN患者（非突变组），随访至2025年1月31日，比较2组患者的临床特征，采用多因素Cox回归模型分析MPN患者生存时间的影响因素。 结果： 突变组22例，男8例，女14例，年龄［M（Q1，Q3）］为65（30，81）岁，其中真性红细胞增多症（PV）、原发性血小板增多症（ET）和原发性骨髓纤维化（PMF）患者分别有6、10和6例；PV患者BRCA2和FANCD2突变比例均最高（均为2/6），ET患者BRCA2突变比例最高（3/10），PMF患者FANCD2突变比例最高（4/6）。非突变组132例，男48例，女84例，年龄65（32，85）岁。突变组脾大［45.5%（10/22）比14.4%（19/132）］、继发骨髓纤维化［27.3%（6/22）比9.8%（13/132）］、继发骨髓增生异常综合征（MDS）［4.5%（1/22）比0］、继发急性髓系白血病（AML）患者［4.5%（1/22）比0］的比例均高于非突变组（均P<0.05）；2组年龄、性别、初诊时血常规血红蛋白、红细胞压积、白细胞计数、血小板计数、染色体核型异常、血栓栓塞、继发第二肿瘤、死亡患者比例等差异均无统计学意义（均P>0.05）。中位随访时间为4（2，9）年，突变组10年总生存率低于非突变组（82.4%比96.2%，P=0.037）。FA信号通路基因突变（HR=2.646，95%CI：0.316~22.178，P=0.017）是MPN患者生存时间的影响因素。 结论： MPN患者常见的FA信号通路基因突变为BRCA2、FANCD2；FA信号通路基因突变是MPN患者生存时间的影响因素。.
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arXiv · 2026-04-07
arXiv · 2026-04-26