Biallelic deletion 13q14.3 in patients with chronic lymphocytic leukemia: Cytogenetic, FISH and clinical studies

Autores
Chena, Christian; Sánchez Ávalos, Julio César Américo; Bezares, Raimundo F.; Arrossagaray, Guillermo; Turdó, Karina; Bistmans, Alicia; Slavutsky, Irma Rosa
Año de publicación
2008
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background and objective: Monoallelic deletion of 13q14.3 (13q14x1) is the most common abnormality in chronic lymphocytic leukemia (CLL). As a sole alteration, it predicts a favorable outcome. Biallelic 13q14.3 (13q14x2) deletion or concomitant 13q14x1/13q14x2 has been scarcely evaluated in the literature. We present the clinical, cytogenetic and fluorescence in situ hybridization (FISH) analysis of six CLL patients with normal karyotypes and 13q14x2 and their comparison to cases with 13q14x1 as a single abnormality. Patients and methods: A total of 103 CLL patients were studied. Cytogenetic and FISH analysis were performed on stimulated peripheral blood lymphocytes. Specific fluorescence DNA probes for CLL were used. Results: Six out of 103 (5.8%) patients showed normal karyotypes and 13q14x2. It was observed as a single alteration in one patient and combined with 13q14x1 in five cases. Biallelic clones were larger than monoallelic ones in 3/5 patients (60%). The comparison of clinical and hematological data between 13q14x1 and 13q14x2 groups showed progression of the disease in all 13q14x2 patients respect to 12/32 (37.5%) cases with 13q14x1 (P = 0.008), significant differences in the distribution by Rai stage (P = 0.042) and a tendency of a higher lactate dehydrogenase level in 13q14x2 patients (P = 0.054). Treatment free survival for 13q14x2 group was 28.5 months, shorter than those observed in patients with 13q14x1 alone (49 months). Conclusions: Our data would suggest that 13q14x2 could represent a more aggressive FISH anomaly than 13q14x1 alone, probably as a consequence of clonal evolution and/or due to the complete inactivation of this critical region by mean of more complex mechanisms. © 2008 The Authors.
Fil: Chena, Christian. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Sánchez Ávalos, Julio César Américo. Instituto ‘Alexander Fleming'; Argentina
Fil: Bezares, Raimundo F.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Dr. Teodoro Álvarez"; Argentina
Fil: Arrossagaray, Guillermo. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Turdó, Karina. Hospital Aeronautico; Argentina
Fil: Bistmans, Alicia. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
Fil: Slavutsky, Irma Rosa. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Materia
Biallelic Deletion 13q14.3
Chromosomes
Chronic Lymphocytic Leukemia
Fish
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/55956
Acceder
id CONICETDig_ece782635923cf2cc9a673e90b01f89a
oai_identifier_str oai:ri.conicet.gov.ar:11336/55956
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Biallelic deletion 13q14.3 in patients with chronic lymphocytic leukemia: Cytogenetic, FISH and clinical studiesChena, ChristianSánchez Ávalos, Julio César AméricoBezares, Raimundo F.Arrossagaray, GuillermoTurdó, KarinaBistmans, AliciaSlavutsky, Irma RosaBiallelic Deletion 13q14.3ChromosomesChronic Lymphocytic LeukemiaFishhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Background and objective: Monoallelic deletion of 13q14.3 (13q14x1) is the most common abnormality in chronic lymphocytic leukemia (CLL). As a sole alteration, it predicts a favorable outcome. Biallelic 13q14.3 (13q14x2) deletion or concomitant 13q14x1/13q14x2 has been scarcely evaluated in the literature. We present the clinical, cytogenetic and fluorescence in situ hybridization (FISH) analysis of six CLL patients with normal karyotypes and 13q14x2 and their comparison to cases with 13q14x1 as a single abnormality. Patients and methods: A total of 103 CLL patients were studied. Cytogenetic and FISH analysis were performed on stimulated peripheral blood lymphocytes. Specific fluorescence DNA probes for CLL were used. Results: Six out of 103 (5.8%) patients showed normal karyotypes and 13q14x2. It was observed as a single alteration in one patient and combined with 13q14x1 in five cases. Biallelic clones were larger than monoallelic ones in 3/5 patients (60%). The comparison of clinical and hematological data between 13q14x1 and 13q14x2 groups showed progression of the disease in all 13q14x2 patients respect to 12/32 (37.5%) cases with 13q14x1 (P = 0.008), significant differences in the distribution by Rai stage (P = 0.042) and a tendency of a higher lactate dehydrogenase level in 13q14x2 patients (P = 0.054). Treatment free survival for 13q14x2 group was 28.5 months, shorter than those observed in patients with 13q14x1 alone (49 months). Conclusions: Our data would suggest that 13q14x2 could represent a more aggressive FISH anomaly than 13q14x1 alone, probably as a consequence of clonal evolution and/or due to the complete inactivation of this critical region by mean of more complex mechanisms. © 2008 The Authors.Fil: Chena, Christian. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Sánchez Ávalos, Julio César Américo. Instituto ‘Alexander Fleming'; ArgentinaFil: Bezares, Raimundo F.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Dr. Teodoro Álvarez"; ArgentinaFil: Arrossagaray, Guillermo. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Turdó, Karina. Hospital Aeronautico; ArgentinaFil: Bistmans, Alicia. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: Slavutsky, Irma Rosa. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaWiley Blackwell Publishing, Inc2008-08info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/55956Chena, Christian; Sánchez Ávalos, Julio César Américo; Bezares, Raimundo F.; Arrossagaray, Guillermo; Turdó, Karina; et al.; Biallelic deletion 13q14.3 in patients with chronic lymphocytic leukemia: Cytogenetic, FISH and clinical studies; Wiley Blackwell Publishing, Inc; European Journal Of Haematology; 81; 2; 8-2008; 94-990902-4441CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1111/j.1600-0609.2008.01086.xinfo:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1600-0609.2008.01086.xinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:36:34Zoai:ri.conicet.gov.ar:11336/55956instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:36:34.29CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Biallelic deletion 13q14.3 in patients with chronic lymphocytic leukemia: Cytogenetic, FISH and clinical studies
title Biallelic deletion 13q14.3 in patients with chronic lymphocytic leukemia: Cytogenetic, FISH and clinical studies
spellingShingle Biallelic deletion 13q14.3 in patients with chronic lymphocytic leukemia: Cytogenetic, FISH and clinical studies
Chena, Christian
Biallelic Deletion 13q14.3
Chromosomes
Chronic Lymphocytic Leukemia
Fish
title_short Biallelic deletion 13q14.3 in patients with chronic lymphocytic leukemia: Cytogenetic, FISH and clinical studies
title_full Biallelic deletion 13q14.3 in patients with chronic lymphocytic leukemia: Cytogenetic, FISH and clinical studies
title_fullStr Biallelic deletion 13q14.3 in patients with chronic lymphocytic leukemia: Cytogenetic, FISH and clinical studies
title_full_unstemmed Biallelic deletion 13q14.3 in patients with chronic lymphocytic leukemia: Cytogenetic, FISH and clinical studies
title_sort Biallelic deletion 13q14.3 in patients with chronic lymphocytic leukemia: Cytogenetic, FISH and clinical studies
dc.creator.none.fl_str_mv Chena, Christian
Sánchez Ávalos, Julio César Américo
Bezares, Raimundo F.
Arrossagaray, Guillermo
Turdó, Karina
Bistmans, Alicia
Slavutsky, Irma Rosa
author Chena, Christian
author_facet Chena, Christian
Sánchez Ávalos, Julio César Américo
Bezares, Raimundo F.
Arrossagaray, Guillermo
Turdó, Karina
Bistmans, Alicia
Slavutsky, Irma Rosa
author_role author
author2 Sánchez Ávalos, Julio César Américo
Bezares, Raimundo F.
Arrossagaray, Guillermo
Turdó, Karina
Bistmans, Alicia
Slavutsky, Irma Rosa
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Biallelic Deletion 13q14.3
Chromosomes
Chronic Lymphocytic Leukemia
Fish
topic Biallelic Deletion 13q14.3
Chromosomes
Chronic Lymphocytic Leukemia
Fish
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Background and objective: Monoallelic deletion of 13q14.3 (13q14x1) is the most common abnormality in chronic lymphocytic leukemia (CLL). As a sole alteration, it predicts a favorable outcome. Biallelic 13q14.3 (13q14x2) deletion or concomitant 13q14x1/13q14x2 has been scarcely evaluated in the literature. We present the clinical, cytogenetic and fluorescence in situ hybridization (FISH) analysis of six CLL patients with normal karyotypes and 13q14x2 and their comparison to cases with 13q14x1 as a single abnormality. Patients and methods: A total of 103 CLL patients were studied. Cytogenetic and FISH analysis were performed on stimulated peripheral blood lymphocytes. Specific fluorescence DNA probes for CLL were used. Results: Six out of 103 (5.8%) patients showed normal karyotypes and 13q14x2. It was observed as a single alteration in one patient and combined with 13q14x1 in five cases. Biallelic clones were larger than monoallelic ones in 3/5 patients (60%). The comparison of clinical and hematological data between 13q14x1 and 13q14x2 groups showed progression of the disease in all 13q14x2 patients respect to 12/32 (37.5%) cases with 13q14x1 (P = 0.008), significant differences in the distribution by Rai stage (P = 0.042) and a tendency of a higher lactate dehydrogenase level in 13q14x2 patients (P = 0.054). Treatment free survival for 13q14x2 group was 28.5 months, shorter than those observed in patients with 13q14x1 alone (49 months). Conclusions: Our data would suggest that 13q14x2 could represent a more aggressive FISH anomaly than 13q14x1 alone, probably as a consequence of clonal evolution and/or due to the complete inactivation of this critical region by mean of more complex mechanisms. © 2008 The Authors.
Fil: Chena, Christian. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Sánchez Ávalos, Julio César Américo. Instituto ‘Alexander Fleming'; Argentina
Fil: Bezares, Raimundo F.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Dr. Teodoro Álvarez"; Argentina
Fil: Arrossagaray, Guillermo. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Turdó, Karina. Hospital Aeronautico; Argentina
Fil: Bistmans, Alicia. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
Fil: Slavutsky, Irma Rosa. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
description Background and objective: Monoallelic deletion of 13q14.3 (13q14x1) is the most common abnormality in chronic lymphocytic leukemia (CLL). As a sole alteration, it predicts a favorable outcome. Biallelic 13q14.3 (13q14x2) deletion or concomitant 13q14x1/13q14x2 has been scarcely evaluated in the literature. We present the clinical, cytogenetic and fluorescence in situ hybridization (FISH) analysis of six CLL patients with normal karyotypes and 13q14x2 and their comparison to cases with 13q14x1 as a single abnormality. Patients and methods: A total of 103 CLL patients were studied. Cytogenetic and FISH analysis were performed on stimulated peripheral blood lymphocytes. Specific fluorescence DNA probes for CLL were used. Results: Six out of 103 (5.8%) patients showed normal karyotypes and 13q14x2. It was observed as a single alteration in one patient and combined with 13q14x1 in five cases. Biallelic clones were larger than monoallelic ones in 3/5 patients (60%). The comparison of clinical and hematological data between 13q14x1 and 13q14x2 groups showed progression of the disease in all 13q14x2 patients respect to 12/32 (37.5%) cases with 13q14x1 (P = 0.008), significant differences in the distribution by Rai stage (P = 0.042) and a tendency of a higher lactate dehydrogenase level in 13q14x2 patients (P = 0.054). Treatment free survival for 13q14x2 group was 28.5 months, shorter than those observed in patients with 13q14x1 alone (49 months). Conclusions: Our data would suggest that 13q14x2 could represent a more aggressive FISH anomaly than 13q14x1 alone, probably as a consequence of clonal evolution and/or due to the complete inactivation of this critical region by mean of more complex mechanisms. © 2008 The Authors.
publishDate 2008
dc.date.none.fl_str_mv 2008-08
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/55956
Chena, Christian; Sánchez Ávalos, Julio César Américo; Bezares, Raimundo F.; Arrossagaray, Guillermo; Turdó, Karina; et al.; Biallelic deletion 13q14.3 in patients with chronic lymphocytic leukemia: Cytogenetic, FISH and clinical studies; Wiley Blackwell Publishing, Inc; European Journal Of Haematology; 81; 2; 8-2008; 94-99
0902-4441
CONICET Digital
CONICET
url http://hdl.handle.net/11336/55956
identifier_str_mv Chena, Christian; Sánchez Ávalos, Julio César Américo; Bezares, Raimundo F.; Arrossagaray, Guillermo; Turdó, Karina; et al.; Biallelic deletion 13q14.3 in patients with chronic lymphocytic leukemia: Cytogenetic, FISH and clinical studies; Wiley Blackwell Publishing, Inc; European Journal Of Haematology; 81; 2; 8-2008; 94-99
0902-4441
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1111/j.1600-0609.2008.01086.x
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1600-0609.2008.01086.x
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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