Arabatzis Taxiarhia J, Desai Biren, Baril Sandra, Rasul Susan, Tekle-Yohannes Girmay, Miller Michal Ann
Department of Internal Medicine-Pediatrics, Janet Weis Children's Hospital, Danville, PA, USA.
Department of Pediatrics, Janet Weis Children's Hospital, Danville, PA, USA.
BMC Pediatr. 2025 Feb 28;25(1):151. doi: 10.1186/s12887-024-05093-3.
Here we describe the case of an infant incidentally diagnosed with congenital KMT2A-rearranged (KMT2A-r) B-cell ALL on Day of Life 4. He received the first dose of intrathecal methotrexate on DOL 5, and induction systemic therapy on DOL 6. He demonstrated morphologic remission at the end of induction but had positive bone marrow. Minimal residual disease (MRD) was 1.4%. He experienced isolated CNS disease after consolidation and immunotherapy. At 8 months of age he underwent hematopoietic stem cell transplantation (HSCT). At 14 months of age he had medullary and CNS relapse, and at 16 months of age underwent CD19 CAR-T therapy. At 6 years of age he remains in remission with tolerable developmental delays and a good quality of life.
在此，我们描述了一例在出生后第4天偶然诊断为先天性KMT2A重排（KMT2A-r）B细胞急性淋巴细胞白血病（ALL）的婴儿病例。他在出生后第5天接受了第一剂鞘内注射甲氨蝶呤，并在出生后第6天开始诱导全身治疗。诱导治疗结束时他达到形态学缓解，但骨髓检查仍为阳性。微小残留病（MRD）为1.4%。巩固治疗和免疫治疗后他出现了孤立性中枢神经系统疾病。8个月大时他接受了造血干细胞移植（HSCT）。14个月大时他出现髓系和中枢神经系统复发，16个月大时接受了CD19嵌合抗原受体T细胞（CAR-T）治疗。6岁时他仍处于缓解状态，伴有可耐受的发育迟缓，生活质量良好。
