Zhang M Y, Bao M, Shi D Y, Shi H X, Liu X L, Xu N, Duan M H, Zhuang J L, Du X, Qin L, Hui W H, Liang R, Wang M F, Chen Y, Li D Y, Yang W, Tang G S, Zhang W H, Kuang X, Su W, Han Y Q, Chen L M, Xu J H, Liu Z G, Huang J, Zhao C T, Tong H Y, Hu J D, Chen C Y, Chen X Q, Xiao Z J, Jiang Q
Peking University People's Hospital, Beijing 100044, China.
Nanfang Hospital, Southern Medical University, Guangzhou 510080, China.
Zhonghua Xue Ye Xue Za Zhi. 2023 Mar 14;44(3):193-201. doi: 10.3760/cma.j.issn.0253-2727.2023.03.004.
To investigate the clinical and genetic features of young Chinese patients with myeloproliferative neoplasms (MPN). 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. 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 <0.001) , a higher education level (all <0.001) , less comorbidity (ies) , fewer medications (all <0.001) , and low-risk stratification (all <0.001) . Younger respondents experienced headache (ET, <0.001; PV, =0.007; MF, =0.001) at diagnosis, had splenomegaly at diagnosis (PV, <0.001) , and survey (ET, =0.052; PV, =0.063) . Younger respondents had fewer thrombotic events at diagnosis (ET, <0.001; PV, =0.011) and during the survey (ET, <0.001; PV, =0.003) . JAK2 mutations were found in fewer young people (ET, <0.001; PV, <0.001; MF, =0.013) ; however, CALR mutations were found in more young people (ET, <0.001; MF, =0.015) . Furthermore, mutations in non-driver genes (ET, =0.042; PV, =0.043; MF, =0.004) and high-molecular risk mutations (ET, =0.024; PV, =0.023; MF, =0.001) were found in fewer young respondents. Compared with middle-aged and elderly patients, young patients with MPN had unique clinical and genetic characteristics.
为研究中国年轻骨髓增殖性肿瘤（MPN）患者的临床和遗传特征。在这项横断面研究中，向全国范围内的MPN患者发放了匿名问卷。根据诊断时的年龄，将受访者分为3组：年轻组（≤40岁）、中年组（41 - 60岁）和老年组（>60岁）。我们比较了三组MPN患者的临床和遗传特征。共收集到1727份可评估问卷。其中有453名（26.2%）年轻的MPN受访者，包括274例原发性血小板增多症（ET）患者、80例真性红细胞增多症（PV）患者和99例骨髓纤维化患者。在年轻组中，178名（39.3%）为男性，中位年龄为31（18 - 40）岁。与中年和老年受访者相比，年轻的MPN受访者更可能呈现出未婚比例更高（均<0.001）、教育水平更高（均<0.001）、合并症更少、用药更少（均<0.001）以及低风险分层（均<0.001）的情况。年轻受访者在诊断时出现头痛（ET，<0.001；PV，=0.007；MF，=0.001），诊断时有脾肿大（PV，<0.001），以及在调查中（ET，=0.052；PV，=0.063）。年轻受访者在诊断时（ET，<0.001；PV，=0.011）和调查期间（ET，<0.001；PV，=0.003）发生血栓事件的情况较少。JAK2突变在年轻人中较少见（ET，<0.001；PV, <0.001；MF，=0.013）；然而，CALR突变在年轻人中更常见（ET，<0.001；MF，=0.015）。此外，非驱动基因突变（ET，=0.042；PV，=0.043；MF，=0.004）和高分子风险突变（ET，=0.024；PV，=0.023；MF，=0.001）在年轻受访者中也较少见。与中年和老年患者相比，年轻的MPN患者具有独特的临床和遗传特征。
