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dc.contributor.author
Palmitelli, Micaela
dc.contributor.author
Stanganelli, Carmen Graciela
dc.contributor.author
Stella, Flavia
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Krywinski, Andrea
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Bezares, Raimundo F.
dc.contributor.author
Gonzalez Cid, Marcela Beatriz
dc.contributor.author
Slavutsky, Irma Rosa
dc.date.available
2020-05-29T18:46:09Z
dc.date.issued
2019-04
dc.identifier.citation
Palmitelli, Micaela; Stanganelli, Carmen Graciela; Stella, Flavia; Krywinski, Andrea; Bezares, Raimundo F.; et al.; Analysis of basal chromosome instability in patients with chronic lymphocytic leukaemia; Oxford University Press; Mutagenesis; 20; 4-2019; 1-8
dc.identifier.issn
0267-8357
dc.identifier.uri
http://hdl.handle.net/11336/106263
dc.description.abstract
Genomic instability is a hallmark of cancer, contributing to tumour development and transformation, being chromosome instability (CIN) the most common form in human cancer. Chronic lymphocytic leukaemia (CLL) is the most frequent adult leukaemia in the Western world. In this study, we have evaluated basal CIN in untreated patients with CLL by measuring chromosome aberrations (CAs) and micronucleus (MN) frequency and their association with different prognostic factors. Seventy-two patients and 21 normal controls were analysed. Cytogenetic and fluorescence in situ hybridisation (FISH) studies were performed. IGHV (immunoglobulin heavy chain variable region) mutational status was evaluated by reverse transcription polymerase chain reaction and sequencing. An increased number of CA in patients compared with controls ( P = 0.0001) was observed. Cases with abnormal karyotypes showed increased CA rate than those with normal karyotypes ( P = 0.0026), with a particularly highest frequency in cases with complex karyotypes. Among FISH risk groups, a significant low frequency of CA was found in patients with no FISH alterations compared to those with del13q14 and ≥2 FISH alterations ( P = 0.0074). When mean CA value (6.7%) was considered, significant differences in the distribution of low and high CA frequency between cases with normal and abnormal karyotypes ( P = 0.002) were observed. By MN analysis, higher frequency in patients compared to controls ( P = 0.0001) was also found, as well as between cases with ≥2 FISH abnormalities and those with no FISH alterations ( P = 0.026). Similarly, significant differences were observed when patients were divided according to mean MN frequency (2.2%; P ≤ 0.04). Interestingly, patients with high MN frequency had shorter time to first treatment than those with low frequency ( P = 0.024). Cases with mutated and unmutated IGHV status showed increased CA and MN frequencies compared to controls ( P ≤ 0.0007), but no differences between both groups were found. Our results support the strong interaction between CIN and genomic complexity as well as their influence on poor outcome in this pathology.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Oxford University Press
dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
BASAL CHROMOSOME INSTABILITY
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CHRONIC LYMPHOCYTIC LEUKAEMIA
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PATIENTS
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MICRONUCLEI FREQUENCY
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Genética y Herencia
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Ciencias Biológicas
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CIENCIAS NATURALES Y EXACTAS
dc.title
Analysis of basal chromosome instability in patients with chronic lymphocytic leukaemia
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2020-04-23T19:22:21Z
dc.journal.volume
20
dc.journal.pagination
1-8
dc.journal.pais
Reino Unido
dc.journal.ciudad
Oxford
dc.description.fil
Fil: Palmitelli, Micaela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
dc.description.fil
Fil: Stanganelli, Carmen Graciela. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
dc.description.fil
Fil: Stella, Flavia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
dc.description.fil
Fil: Krywinski, Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
dc.description.fil
Fil: Bezares, Raimundo F.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Dr. Teodoro Álvarez"; Argentina
dc.description.fil
Fil: Gonzalez Cid, Marcela Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
dc.description.fil
Fil: Slavutsky, Irma Rosa. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
dc.journal.title
Mutagenesis
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1093/mutage/gez009
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/mutage/article-abstract/34/3/245/5481700?redirectedFrom=fulltext
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