急性淋巴细胞白血病 (ALL) 中的 PDGFRB 融合很少见。作者鉴定了 28 名 PDGFRB 阳性儿童 ALL。他们分析了这种疾病的特征、结果和预后因素。 这项多中心回顾性研究纳入了 2015 年 4 月至 2022 年 4 月根据 CCCG-ALL-2015 和 CCCG-ALL-2020 方案新诊断的 PDGFRB 融合 ALL 的 6457 名儿童患者中国20家医院。在这些患者中，有 3451 名患者接受了 PDGFRB 融合筛查。在 3451 名接受 PDGFRB 检测的病例中，儿童 PDGFRB 阳性 ALL 仅占 0.8%。这些患者包括 21 名男性和 7 名女性以及 24 名 B-ALL 和 4 名 T-ALL；中位年龄为 10 岁；基线时白细胞计数中位数为 29.8 × 109/L。只有一名患者出现嗜酸性粒细胞增多。 3 名患者存在 IKZF1 缺失，3 名患者存在染色体 5q31-33 异常，1 名患者存在复杂核型。 3年无事件生存率（EFS）、总生存率（OS）和累积复发率（CIR）分别为33.1%、65.5%和32.1%，中位随访时间为25.5个月。 20 名患者接受化疗加酪氨酸激酶抑制剂 (TKI) 治疗，8 名患者未接受 TKI 治疗。完全缓解（CR）率分别为 90.0% 和 63.6%，但 EFS、OS 或 CIR 没有差异。单变量分析显示，诱导后 IKZF1 缺失或可测量残留病 (MRD) ≥0.01% 的患者预后较差 (p < .05)。儿科 PDGFRB 阳性 ALL 的预后较差，且与高风险特征相关。化疗联合TKI可以提高CR率，为降低MRD水平和移植提供机会。 MRD≥0.01%是一个强有力的不良预后因素，基于MRD的分层治疗可能会提高这些患者的生存率。PDGFRB融合的小儿急性淋巴细胞白血病患者与年龄较大、白细胞计数高等高危临床特征相关诊断时、诱导治疗后可测量的高残留病灶以及白血病复发的风险增加。化疗加酪氨酸激酶抑制剂可以提高完全缓解率，并为儿科 PDGFRB 阳性急性淋巴细胞白血病 (ALL) 患者提供降低可测量残留病 (MRD) 水平和移植的机会。 MRD 水平也是儿科 PDGFRB 阳性 ALL 患者的一个强有力的预后因素。© 2024 美国癌症协会。

PDGFRB fusions in acute lymphoblastic leukemia (ALL) is rare. The authors identified 28 pediatric PDGFRB-positive ALL. They analyzed the features, outcomes, and prognostic factors of this disease.This multicenter, retrospective study included 6457 pediatric patients with newly diagnosed PDGFRB fusion ALL according to the CCCG-ALL-2015 and CCCG-ALL-2020 protocols from April 2015 to April 2022 in 20 hospitals in China. Of these patients, 3451 were screened for PDGFRB fusions.Pediatric PDGFRB-positive ALL accounted for only 0.8% of the 3451 cases tested for PDGFRB. These patients included 21 males and seven females and 24 B-ALL and 4 T-ALL; the median age was 10 years; and the median leukocyte count was 29.8 × 109/L at baseline. Only one patient had eosinophilia. Three patients had an IKZF1 deletion, three had chromosome 5q31-33 abnormalities, and one suffered from a complex karyotype. The 3-year event-free survival (EFS), overall survival (OS), and cumulative incidence of relapse (CIR) were 33.1%, 65.5%, and 32.1%, respectively, with a median follow-up of 25.5 months. Twenty patients were treated with chemotherapy plus tyrosine-kinase inhibitors (TKIs) and eight were treated without TKI. Complete remission (CR) rates of them were 90.0% and 63.6%, respectively, but no differences in EFS, OS, or CIR. Univariate analyses showed patients with IKZF1 deletion or measurable residual disease (MRD) ≥0.01% after induction had inferior outcomes (p < .05).Pediatric PDGFRB-positive ALL has a poor outcome associated with high-risk features. Chemotherapy plus TKIs can improve the CR rate, providing an opportunity for lower MRD levels and transplantation. MRD ≥0.01% was a powerful adverse prognostic factor, and stratified treatment based on MRD may improve survival for these patients.Pediatric acute lymphoblastic leukemia patients with PDGFRB fusions are associated with high-risk clinical features such as older age, high white blood cell count at diagnosis, high measurable residual disease after induction therapy, and increased risk of leukemia relapse. Chemotherapy plus tyrosine-kinase inhibitors can improve the complete remission rate and provide an opportunity for lower measurable residual disease (MRD) levels and transplantation for pediatric PDGFRB-positive acute lymphoblastic leukemia (ALL) patients. The MRD level was also a powerful prognostic factor for pediatric PDGFRB-positive ALL patients.© 2024 American Cancer Society.