中国年轻骨髓增殖性肿瘤患者的临床和基因突变特征

OBJECTIVE: To investigate the clinical and genetic features of young Chinese patients with myeloproliferative neoplasms (MPN). METHODS: In this cross-sectional study, anonymous questionnaires were distributed to patients with MPN patients nationwide. The respondents were divided into 3 groups based on their age at diagnosis: young (≤40 years), middle-aged (41–60 years), and elderly (>60 years). We compared the clinical and genetic characteristics of three groups of MPN patients. RESULTS: 1727 assessable questionnaires were collected. There were 453 (26.2％) young respondents with MPNs, including 274 with essential thrombocythemia (ET), 80 with polycythemia vera (PV), and 99 with myelofibrosis. Among the young group, 178 (39.3％) were male, and the median age was 31 (18–40) years. In comparison to middle-aged and elderly respondents, young respondents with MPN were more likely to present with a higher proportion of unmarried status (all P<0.001), a higher education level (all P<0.001), less comorbidity(ies), fewer medications (all P<0.001), and low-risk stratification (all P<0.001). Younger respondents experienced headache (ET, P<0.001; PV, P＝0.007; MF, P＝0.001) at diagnosis, had splenomegaly at diagnosis (PV, P<0.001), and survey (ET, P＝0.052; PV, P＝0.063). Younger respondents had fewer thrombotic events at diagnosis (ET, P<0.001; PV, P＝0.011) and during the survey (ET, P<0.001; PV, P＝0.003). JAK2 mutations were found in fewer young people (ET, P<0.001; PV, P<0.001; MF, P＝0.013); however, CALR mutations were found in more young people (ET, P<0.001; MF, P＝0.015). Furthermore, mutations in non-driver genes (ET, P＝0.042; PV, P＝0.043; MF, P＝0.004) and high-molecular risk mutations (ET, P＝0.024; PV, P＝0.023; MF, P＝0.001) were found in fewer young respondents. CONCLUSION: Compared with middle-aged and elderly patients, young patients with MPN had unique clinical and genetic characteristics.