Elsabagh Eman, Gallant Rachel, Goldberg Lior, Sharma Aditya, Martin Paul L, Driscoll Timothy A, Bauchat Andrea, Kurtzberg Joanne, Spencer LaTarsha, Aguayo-Hiraldo Paibel I, Kapoor Neena, Mahadeo Kris M, Abdel-Azim Hisham
Department of Pediatrics, Division of Transplantation and Cellular Therapy, Duke University, Durham, NC, United States.
Division of Pediatric Hematology-Oncology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, United States.
Front Oncol. 2025 Jun 3;15:1541192. doi: 10.3389/fonc.2025.1541192. eCollection 2025.
Allogeneic hematopoietic cell transplantation (HCT) is a potentially curative treatment for most children with juvenile myelomonocytic leukemia (JMML), but overall survival remains poor at 50%. Given its rarity and heterogeneity, there is no standard HCT conditioning regimen for JMML.
Retrospective study of consecutive patients with JMML who underwent HCT using a busulfan/ melphalan backbone conditioning regimen (n=17) at two academic centers.
The median age at HCT was 1.9 (range 0.7-6.0) years. At a median follow up of 7.6 (range 2.9-21.5) years, 100% disease-free (DFS) and overall survival (OS), with prompt immune reconstitution were observed. This cyclophosphamide-sparing approach was associated with no transplant related mortality.
Given excellent clinical outcomes at extended follow-up, prospective studies are needed to confirm our findings in this ultra-rare disease.
异基因造血细胞移植（HCT）对大多数青少年型粒单核细胞白血病（JMML）患儿来说是一种可能治愈的治疗方法，但总体生存率仍低，仅为50%。鉴于其罕见性和异质性，目前尚无针对JMML的标准HCT预处理方案。
对在两个学术中心接受以白消安/美法仑为主的预处理方案进行HCT的连续JMML患者（n = 17）进行回顾性研究。
HCT时的中位年龄为1.9岁（范围0.7 - 6.0岁）。在中位随访7.6年（范围2.9 - 21.5年）时，观察到无病生存率（DFS）和总生存率（OS）均为100%，且免疫功能迅速重建。这种避免使用环磷酰胺的方法未出现与移植相关的死亡。
鉴于长期随访的良好临床结果，需要进行前瞻性研究以证实我们在这种超罕见疾病中的发现。
