初诊急性髓系白血病合并骨髓纤维化患者的临床特征、基因突变及预后分析

OBJECTIVE: This study aims to investigate the characteristics of gene mutation and clinical prognosis in de novo acute myeloid leukemia（AML）patients with myelofibrosis（MF）. METHODS: From January 1, 2016, to February 1, 2020, 103 newly diagnosed AML patients in Henan Provincial People's Hospital who simultaneously underwent bone marrow biopsy examination were included. They were divided into the AML-MF group（MF grades 1–3）and the AML without MF group（MF grade 0）, and the clinical features, gene alterations, chemotherapy efficacy, and prognosis were compared between the two groups retrospectively. RESULTS: ①MF was confirmed in 44.7% of AML patients（46/103）, of which 84.8％（39/46）were MF-1 and 15.2％（7/46）were MF-2/3, while MF was not confirmed in 55.3％（57/103）of AML patients. The median of WBC in the AML-MF group was significantly higher than in the AML without MF group［11.205（0.69–191.82）×10(9)/L vs 4.64（0.18–95.10）×10(9)/L，P＝0.024］. More patients in the AML-MF group had nucleated erythrocytes in the peripheral blood（43.5％ vs 24.6％,χ(2)＝4.119, P＝0.042）. All four AML-M(0) patients were in the AMLMF group, while AML without MF group had a higher proportion of AML-M(2)（P＝0.014）. ②FLT3-ITD and NPM1 mutations were more frequent in the AML-MF group（P＝0.021 and 0.039）, while CEBPA mutation was more frequent in the AML without MF group（P＝0.029）. ③The CR rate in the AML-MF group was significantly lower than in the AML without MF group（69.7％ vs 93.2％）（χ(2)=7.412, P＝0.006）. Multivariate analysis showed that MF, especially the grade of fibrosis, was an independent risk factor for CR in de novo AML. ④The 3-year OS of patients in the AML-MF group was significantly lower than in the AML without MF group（20.5％ vs 72.2％,χ(2)＝4.032, P＝0.045）. Subgroup analysis showed that OS and PFS of AML-MF1 and AML-MF 2/3 groups were also significantly worse than those of the AML without MF group（P＝0.001）and MF, especially MF≥2, was an independent marker for inferior OS and PFS in de novo AML（P＝0.021 and 0.044）. CONCLUSION: AML-MF has unique laboratory and clinical characteristics. MF is an independent risk factor for CR, OS, and PFS in AML. Evaluation of MF is very significant for therapy efficacy and prognosis judgment in de novo AML.