Clinical and genetic characteristics of young patients with myeloproliferative neoplasms
10.3760/cma.j.issn.0253-2727.2023.03.004
- VernacularTitle:中国年轻骨髓增殖性肿瘤患者的临床和基因突变特征
- Author:
Mengyu ZHANG
1
;
Mei BAO
;
Dayu SHI
;
Hongxia SHI
;
Xiaoli LIU
;
Na XU
;
Minghui DUAN
;
Junling ZHUANG
;
Xin DU
;
Ling QIN
;
Wuhan HUI
;
Rong LIANG
;
Meifang WANG
;
Ye CHEN
;
Dongyun LI
;
Wei YANG
;
Gusheng TANG
;
Weihua ZHANG
;
Xia KUANG
;
Wei SU
;
Yanqiu HAN
;
Limei CHEN
;
Jihong XU
;
Zhuogang LIU
;
Jian HUANG
;
Chunting ZHAO
;
Hongyan TONG
;
Jianda HU
;
Chunyan CHEN
;
Xiequn CHEN
;
Zhijian XIAO
;
Qian JIANG
Author Information
1. 北京大学人民医院，北京大学血液病研究所，国家血液系统疾病临床医学研究中心，北京 100044
- Keywords:
Myeloproliferative neoplasms;
Clinical manifestations;
Genetic mutations;
Next-generation sequencing
- From:
Chinese Journal of Hematology
2023;44(3):193-201
- CountryChina
- Language:Chinese
-
Abstract:
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.
