目的 探讨伴有PDGFRB重排的儿童急性淋巴细胞白血病（acute lymphoblastic leukemia, ALL）的临床特征及预后。 方法 回顾性分析2020年1月—2024年12月郑州大学第一附属医院儿童医院初诊初治的7例伴有PDGFRB重排的ALL患儿临床特点、实验室检查结果、治疗及生存情况。 结果 PDGFRB重排的ALL患儿共7例，占同期诊断ALL的1.0%（7/673），其中男3例，女4例，中位诊断年龄为8岁（1~12岁）。1例为急性T淋巴细胞白血病，6例为急性B淋巴细胞白血病；4例EBF1⁃PDGFRB融合基因阳性，1例ROCK1⁃PDGFRB融合基因阳性，1例CCDC88C⁃PDGFRB融合基因阳性，1例SSBP2⁃PDGFRB融合基因阳性；6例患儿合并基因突变，包括IKZF1、EBF1、PAX5、CDKN2A和CDKN2B，1例合并ETV6⁃RUNX1融合基因阳性，1例合并STIL⁃TAL1融合基因阳性；7例患儿染色体核型均正常。7例患儿均接受化疗，1个疗程完全缓解率为100%，微小残留病阴性率57%（4/7），PDGFRB基因的转阴率为43%（3/7）。3例患儿缓解后行异基因造血干细胞移植，现均无病存活，其余4例患儿中2例死亡。 结论 伴PDGFRB重排的ALL患儿发病率较低，多在急性B淋巴细胞白血病中检出，发病时年龄偏大，其融合基因伴侣具有多样性，可合并多种基因突变；诱导缓解后微小残留病及基因转阴率低，造血干细胞移植或可提高此类患儿的预后。

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.