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A proportion of patients with polycythemia vera (PV) and essential thrombocythemia (ET) harbor non-driver mutations associated with poor prognosis. In this study, we analyzed the frequency of non-driver mutations in a large Japanese PV and ET cohort. Furthermore, we studied the relationship of these mutations and prognosis in Japanese patients. We enrolled 843 Japanese patients with PV or ET. Non-driver mutations were analyzed by target resequencing using next-generation sequencing. The association of the mutations with the prognosis was estimated using multivariable logistic regression analysis and log-rank test. Non-driver mutations were detected in 31.1% and 24.5% patients with PV and ET, respectively. Among them, ASXL1 mutations were identified as a risk factor for leukemic/myelofibrotic transformation in PV and ET patients (hazard ratio: 4.68, p = .006). The higher-risk groups of the mutation-enhanced international prognostic system (MIPSS)-PV and MIPSS-ET incorporating non-driver mutations exhibited significantly shorter overall survival compared with the low-risk group (p < .001). These results implicate the importance of studying non-driver mutations for predicting the prognosis and survival of Japanese PV and ET patients. © 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.


Soji Morishita, Yoshinori Hashimoto, Chiho Furuya, Yoko Edahiro, Tomonori Ochiai, Shuichi Shirane, Tadaaki Inano, Hajime Yasuda, Miki Ando, Marito Araki, Norio Komatsu. Non-driver gene mutation analysis in a large cohort of polycythemia vera and essential thrombocythemia. European journal of haematology. 2023 Feb;110(2):131-136

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PMID: 36208190

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