Objectives: 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.
目的： 探究中国年轻骨髓增殖性肿瘤（MPN）患者的临床和基因突变特征。 方法： 通过横断面研究，在全国范围内向MPN患者发放调查问卷，根据诊断时年龄分为年轻组（≤40岁）、中年组（41~60岁）和老年组（>60岁），在各疾病类型中比较三组的差异。 结果： 共收集到1 727份可供分析的问卷，其中年轻组453例（26.2%），包括原发性血小板增多症（ET）274例、真性红细胞增多症（PV）80例、骨髓纤维化（MF）99例（原发性MF 45例，PV后MF 20例，ET后MF 34例）；男性178例（39.3%），中位年龄31（18~40）岁。与中年、老年MPN受访者相比，年轻MPN受访者中未婚、高学历、无合并症、无合并用药、较低危险度分层占比较高（P<0.001）。年轻MPN受访者中以头痛为首发症状患者占比较高（ET：P<0.001；PV：P=0.007；MF：P=0.001），脾大的比例在初诊（PV：P<0.001）和调研时（ET：P=0.052；PV：P=0.063）最高，而血栓事件的发生率在初诊（ET：P<0.001；PV：P=0.011）和调研时（ET：P<0.001；PV：P=0.003）均最低。年轻MPN受访者JAK2突变比例最低（ET：P<0.001；PV：P<0.001；MF：P=0.013），CALR突变比例最高（ET：P<0.001；MF：P=0.015），非驱动基因突变（ET：P=0.042；PV：P=0.043；MF：P=0.004）和高分子风险（HMR）突变（ET：P=0.024；PV：P=0.023；MF：P=0.001）的检出率均最低。 结论： 与中、老年患者相比，年轻MPN患者有着特有的临床表现和基因突变特征。.
Keywords: Clinical manifestations; Genetic mutations; Myeloproliferative neoplasms; Next-generation sequencing.