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Nijmegen breakage syndrome (NBS) as a risk factor for CNS involvement in childhood acute lymphoblastic leukemia
Author(s) -
Pastorczak Agata,
Stolarska Malgorzata,
Trelińska Joanna,
Zawitkowska Joanna,
Kowalczyk Jerzy,
Mlynarski Wojciech
Publication year - 2011
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.23073
Subject(s) - medicine , nijmegen breakage syndrome , leukemia , blood cancer , lymphoblastic leukemia , myeloid leukemia , risk factor , childhood leukemia , incidence (geometry) , immunology , oncology , cancer , dna damage , dna , genetics , biology , physics , optics , ataxia telangiectasia
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. Pediatr Blood Cancer 2011;57:160–162. © 2011 Wiley‐Liss, Inc.