Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.
Pediatr Blood Cancer. 2011 Jul 15;57(1):160-2. doi: 10.1002/pbc.23073. Epub 2011 Mar 8.
Central nervous system (CNS) involvement is an independent risk factor for poor event-free survival and relapse confined to the CNS. Knock-out mice deprived of RAG2, the protein involved in DNA repair, developed leukemic infiltration within leptomeninges. Therefore, we hypothesized that DNA repair deficiencies in humans, such as Nijmegen breakage syndrome (NBS), may constitute a risk factor for CNS dissemination of acute lymphoblastic leukemia (ALL). Having analyzed the incidence of CNS2/CNS3 status at diagnosis of ALL in two independent cohorts from the Polish Pediatric Leukemia/Lymphoma Study Group, we noticed that among children with NBS CNS involvement was significantly frequent.
中枢神经系统（CNS）受累是无事件生存和局限于 CNS 复发的独立危险因素。缺乏参与 DNA 修复的 RAG2 蛋白的敲除小鼠在软脑膜内发展出白血病浸润。因此，我们假设人类的 DNA 修复缺陷，如范可尼贫血（NBS），可能构成急性淋巴细胞白血病（ALL）CNS 播散的危险因素。通过分析来自波兰儿科白血病/淋巴瘤研究组的两个独立队列中 ALL 诊断时 CNS2/CNS3 状态的发生率，我们注意到 NBS 患儿的 CNS 受累明显更为常见。
