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Clinical characteristics of patients with central nervous system relapse in BCR-ABL1-positive acute lymphoblastic leukemia: the importance of characterizing ABL1 mutations in cerebrospinal fluid

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dc.contributor.author Sánchez, Ricardo Juan
dc.contributor.author Abella Monreal, Eugenia
dc.contributor.author Martínez-López, Joaquín
dc.date.accessioned 2018-03-22T08:39:55Z
dc.date.available 2018-03-22T08:39:55Z
dc.date.issued 2017
dc.identifier.citation Sanchez R, Ayala R, Alonso RA, Martínez MP, Ribera J, García O. et al. Clinical characteristics of patients with central nervous system relapse in BCR-ABL1-positive acute lymphoblastic leukemia: the importance of characterizing ABL1 mutations in cerebrospinal fluid. Ann Hematol. 2017 Jul;96(7):1069-1075. DOI: 10.1007/s00277-017-3002-1
dc.identifier.issn 0939-5555
dc.identifier.uri http://hdl.handle.net/10230/34233
dc.description.abstract We investigated the frequency, predictors, and evolution of acute lymphoblastic leukemia (ALL) in patients with CNS relapse and introduced a novel method for studying BCR-ABL1 protein variants in cDNA from bone marrow (BM) and cerebrospinal fluid (CSF) blast cells. A total of 128 patients were analyzed in two PETHEMA clinical trials. All achieved complete remission after imatinib treatment. Of these, 30 (23%) experienced a relapse after achieving complete remission, and 13 (10%) had an isolated CNS relapse or combined CNS and BM relapses. We compared the characteristics of patients with and without CNS relapse and further analyzed CSF and BM samples from two of the 13 patients with CNS relapse. In both patients, classical sequencing analysis of the kinase domain of BCR-ABL1 from the cDNA of CSF blasts revealed the pathogenic variant p.L387M. We also performed ultra-deep next-generation sequencing (NGS) in three samples from one of the relapsed patients. We did not find the mutation in the BM sample, but we did find it in CSF blasts with 45% of reads at the time of relapse. These data demonstrate the feasibility of detecting BCR-ABL1 mutations in CSF blasts by NGS and highlight the importance of monitoring clonal evolution over time.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Springer
dc.relation.ispartof Annals of Hematology. 2017 Jul;96(7):1069-75
dc.rights Copyright © The Author(s) 2017 . Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.subject.other Sistema nerviós central
dc.subject.other Leucèmia limfoblàstica
dc.title Clinical characteristics of patients with central nervous system relapse in BCR-ABL1-positive acute lymphoblastic leukemia: the importance of characterizing ABL1 mutations in cerebrospinal fluid
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1007/s00277-017-3002-1
dc.subject.keyword Acute lymphoblastic leukemia relapse
dc.subject.keyword BCR-ABL1
dc.subject.keyword Central nervous system
dc.subject.keyword Mutation analysis
dc.subject.keyword Neoplasia
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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