中国当代儿科杂志2026，Vol.28Issue(3)：324-329,6.DOI:10.7499/j.issn.1008-8830.2506103
伴有PDGFRB重排的儿童急性淋巴细胞白血病7例临床分析
Clinical analysis of 7 cases of childhood acute lymphoblastic leukemia with PDGFRB rearrangement
陶冶晴 1崔丁丁 1贾晓佩 1连安娜 1祁文静 1朱平 1王春美 1盛光耀1
作者信息
- 1. 郑州大学第一附属医院儿童医院血液肿瘤科,河南 郑州 450052
- 折叠
摘要
Abstract
Objective To investigate the clinical characteristics and prognosis of childhood acute lymphoblastic leukemia(ALL)with PDGFRB rearrangement.Methods A retrospective analysis was conducted of 7 childhood ALL patients with PDGFRB rearrangement who were diagnosed and initiated on therapy at the Children's Hospital,The First Affiliated Hospital of Zhengzhou University from January 2020 to December 2024,assessing clinical features,laboratory findings,treatment,and survival.Results Seven children with PDGFRB-rearranged ALL were identified,accounting for 1.0%(7/673)of ALL cases during the same period.There were 3 males and 4 females,with a median age at diagnosis of 8 years(range:1-12 years).One case was T-acute lymphoblastic leukemia(T-ALL)and 6 cases were B-acute lymphoblastic leukemia(B-ALL).Fusion partners included EBF1-PDGFRB in 4 cases,ROCK1-PDGFRB in 1 case,CCDC88C-PDGFRB in 1 case,and SSBP2-PDGFRB in 1 case.Six patients had concurrent gene mutations,including IKZF1,EBF1,PAX5,CDKN2A,and CDKN2B.One patient was positive for the ETV6-RUNX1 fusion gene,and one for the STIL-TAL1 fusion gene.All 7 patients had normal karyotypes.All patients received chemotherapy,achieving a 100%complete remission rate after one course.Minimal residual disease(MRD)negativity rate was 57%(4/7),and PDGFRB fusion transcript became negative in 3/7(43%).Three patients underwent allogeneic hematopoietic stem cell transplantation in remission and remain disease-free,while 2 of the 4 non-transplanted patients died.Conclusions PDGFRB-rearranged ALL in children is uncommon,is most often detected in B-ALL,and presents at a relatively older age.Fusion partners are diverse and frequently co-occur with additional gene mutations.Despite high initial remission,MRD negativity and molecular clearance rates remain suboptimal,and allogeneic hematopoietic stem cell transplantation may improve prognosis.关键词
急性淋巴细胞白血病/PDGFRB基因重排/预后/儿童Key words
Acute lymphoblastic leukemia/PDGFRB rearrangement/Prognosis/Child引用本文复制引用
陶冶晴,崔丁丁,贾晓佩,连安娜,祁文静,朱平,王春美,盛光耀..伴有PDGFRB重排的儿童急性淋巴细胞白血病7例临床分析[J].中国当代儿科杂志,2026,28(3):324-329,6.
