title: Nijmegen breakage syndrome (NBS) as a risk factor for CNS involvement in childhood acute lymphoblastic leukemia.
abstract: 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.
authors.affiliation: Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland. ciel@tlen.pl
authors.forename: Agata
authors.initials: A
authors.lastname: Pastorczak
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Stolarska
authors.forename: Joanna
authors.initials: J
authors.lastname: Trelińska
authors.forename: Joanna
authors.initials: J
authors.lastname: Zawitkowska
authors.forename: Jerzy
authors.initials: J
authors.lastname: Kowalczyk
authors.forename: Wojciech
authors.initials: W
authors.lastname: Mlynarski
mesh_terms: D000293:Adolescent; D000818:Animals; D002490:Central Nervous System / Q000378:metabolism / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D018572:Disease-Free Survival; D005260:Female; D006801:Humans; D007223:Infant; D017254:Leukemic Infiltration / Q000188:drug therapy / Q000378:metabolism / Q000401:mortality* / Q000473:pathology*; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D049932:Nijmegen Breakage Syndrome / Q000188:drug therapy / Q000235:genetics / Q000401:mortality* / Q000473:pathology*; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000188:drug therapy / Q000378:metabolism / Q000401:mortality* / Q000473:pathology*; D012189:Retrospective Studies; D012307:Risk Factors; D015996:Survival Rate
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C499311:RAG2 protein, human; C499308:Rag2 protein, mouse