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Current prognostication in myelofibrosis (MF) is based on clinicopathological features and mutations in a limited number of driver genes. The impact of other genetic mutations remains unclear. We evaluated for mutations in a myeloid panel of 54 genes using next-generation sequencing. Multivariate Cox regression analysis was used to determine prognostic factors for overall survival (OS) and leukaemia-free survival (LFS), based on mutations of these genes and relevant clinical and haematological features. One hundred and one patients (primary MF, N = 70; secondary MF, N = 31) with a median follow-up of 49 (1-256) months were studied. For the entire cohort, inferior OS was associated with male gender (P = 0.04), age > 65 years (P = 0.04), haemoglobin < 10 g/dL (P = 0.001), CUX1 mutation (P = 0.003) and TP53 mutation (P = 0.049); and inferior LFS was associated with male gender (P = 0.03), haemoglobin < 10 g/dL (P = 0.04) and SRSF2 mutations (P = 0.008). In primary MF, inferior OS was associated with male gender (P = 0.03), haemoglobin < 10 g/dL (P = 0.002), platelet count < 100 × 10 9 /L (P = 0.02), TET2 mutation (P = 0.01) and CUX1 mutation (P = 0.01); and inferior LFS was associated with haemoglobin < 10 g/dL (P = 0.02), platelet count < 100 × 10 9 /L (P = 0.02), TET2 mutations (P = 0.01) and CUX1 mutations (P = 0.04). These results showed that clinical and haematological features and genetic mutations should be considered in MF prognostication.

To find out risk factors of incidences of long-term complications of thrombosis, myelofibrosis with myeloid metaplasia (MMM) and evolution into malignance in Chinese PV patients, we evaluated 320 PV patients referred to our center from April 1984 to June 2005 by Kaplan-Meier estimation and Cox proportional hazards models. A total of 250 events of thrombosis were observed in 138 (43.13%) patients. Advanced age, prior thrombosis and hemoglobin out of control were statistically significant risk factors of incidences of thrombotic events. A total of 43 patients progressed into MMM at a median time of 84 (7-240) months, higher white blood cell (WBC) count, splenomegaly, receiving alkylating agent and hydroxycarbamide were associated with the progression into MMM. During the follow-up time, 11 and 2 patients died of fatal complications of thrombosis and acute myeloid leukaemia (AML), respectively. These results suggest that advanced age, prior thrombosis and hemoglobin out of control contributed to relatively high incidence of thromboembolism; higher WBC count, splenomegaly, receiving alkylating agent and hydroxycarbamide were risk factors of evolution to MMM. The main poor factors that influenced the survival of Chinese PV patients were incidences of thromboembolism and evolution into AML.