[Mutation characteristics and prognosis of patients with Fanconi anemia signaling pathway gene mutation myeloproliferative neoplasm].

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.