Immunoglobulin gene rearrangements and mutational status in argentinian patients with chronic lymphocytic leukemia

Autores
Stanganelli, Carmen Graciela; Travella, Ana Carolina; Bezares, Raimundo F.; Slavutsky, Irma Rosa
Año de publicación
2013
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background: Chronic lymphocytic leukemia (CLL) is a clinically heterogeneous disease. The mutational status of the immunoglobulin heavy chain variable (IGHV) region represents one of the best prognostic markers and defines 2 disease subgroups: mutated (M-CLL) and unmutated (UM-CLL), with different clinical course. Materials and Methods: IGHV-D-J gene rearrangements and mutational status were analyzed in 73 Argentinian patients with CLL, 22 previously treated, by reverse transcriptase-polymerase chain reaction and bidirectional sequencing. The results were compared with those reported in other geographic regions. Fluorescence in situ hybridization analysis was also performed. Results: A total of 43 (58.9%) cases were of patients with M-CLL, and 30 (41.1%) were patients with UM-CLL. Deletion of chromosome 13q14 as a single alteration was more frequently observed in the M-CLL group (48%) than in the UM-CLL group (24%). In the M-CLL group, the proportion of cases with deletion of chromosome 13q14 was significantly higher than those with +12 and those with deletions of chromosomes 17p and 11q (P =.003). The most frequently used IGHV families were IGHV3 > IGHV1 > IGHV4, which are different from those observed in Asian, Brazilian, and Uruguayan series. The IGHV3-23 gene (10.8%) was the most commonly used, followed by IGHV1-69 (9.5%), IGHV4-59 and IGHV2-5 (6.8% each), and IGHV3-21 and IGHV3-30 (5.4% each). IGHV4-34 showed the lowest frequency (2.7%) in our cohort compared with published data, whereas IGHV4-59, IGHV3-72, and IGHV2-5 were overexpressed in our series. Stereotyped HCDR3 (heavy chain complementary determining region 3) was found in 9.5% of patients. Conclusions: Our results showed that Argentinian patients with CLL display an IGHV gene usage that resembles that observed in Western countries and exhibited interesting similarities and differences with respect to published series from other Latin American populations, which reflect variations in the genetic background.
Fil: Stanganelli, Carmen Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: Travella, Ana Carolina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: Bezares, Raimundo F.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Dr. Teodoro Álvarez"; Argentina
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
Materia
CHRONIC LYMPHOCYTIC LEUKEMIA
FLUORESCENCE IN SITU HYBRIDIZATION
IMMUNOGLOBULIN HEAVY CHAIN VARIABLE GENE
SOMATIC HYPERMUTATION
STEREOTYPED B-CELL RECEPTOR
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:11336/84634

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network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Immunoglobulin gene rearrangements and mutational status in argentinian patients with chronic lymphocytic leukemiaStanganelli, Carmen GracielaTravella, Ana CarolinaBezares, Raimundo F.Slavutsky, Irma RosaCHRONIC LYMPHOCYTIC LEUKEMIAFLUORESCENCE IN SITU HYBRIDIZATIONIMMUNOGLOBULIN HEAVY CHAIN VARIABLE GENESOMATIC HYPERMUTATIONSTEREOTYPED B-CELL RECEPTORhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Background: Chronic lymphocytic leukemia (CLL) is a clinically heterogeneous disease. The mutational status of the immunoglobulin heavy chain variable (IGHV) region represents one of the best prognostic markers and defines 2 disease subgroups: mutated (M-CLL) and unmutated (UM-CLL), with different clinical course. Materials and Methods: IGHV-D-J gene rearrangements and mutational status were analyzed in 73 Argentinian patients with CLL, 22 previously treated, by reverse transcriptase-polymerase chain reaction and bidirectional sequencing. The results were compared with those reported in other geographic regions. Fluorescence in situ hybridization analysis was also performed. Results: A total of 43 (58.9%) cases were of patients with M-CLL, and 30 (41.1%) were patients with UM-CLL. Deletion of chromosome 13q14 as a single alteration was more frequently observed in the M-CLL group (48%) than in the UM-CLL group (24%). In the M-CLL group, the proportion of cases with deletion of chromosome 13q14 was significantly higher than those with +12 and those with deletions of chromosomes 17p and 11q (P =.003). The most frequently used IGHV families were IGHV3 > IGHV1 > IGHV4, which are different from those observed in Asian, Brazilian, and Uruguayan series. The IGHV3-23 gene (10.8%) was the most commonly used, followed by IGHV1-69 (9.5%), IGHV4-59 and IGHV2-5 (6.8% each), and IGHV3-21 and IGHV3-30 (5.4% each). IGHV4-34 showed the lowest frequency (2.7%) in our cohort compared with published data, whereas IGHV4-59, IGHV3-72, and IGHV2-5 were overexpressed in our series. Stereotyped HCDR3 (heavy chain complementary determining region 3) was found in 9.5% of patients. Conclusions: Our results showed that Argentinian patients with CLL display an IGHV gene usage that resembles that observed in Western countries and exhibited interesting similarities and differences with respect to published series from other Latin American populations, which reflect variations in the genetic background.Fil: Stanganelli, Carmen Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: Travella, Ana Carolina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: Bezares, Raimundo F.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Dr. Teodoro Álvarez"; ArgentinaFil: 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; ArgentinaElsevier Inc.2013-08info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/84634Stanganelli, Carmen Graciela; Travella, Ana Carolina; Bezares, Raimundo F.; Slavutsky, Irma Rosa; Immunoglobulin gene rearrangements and mutational status in argentinian patients with chronic lymphocytic leukemia; Elsevier Inc.; Clinical Lymphoma, Myeloma and Leukemia; 13; 4; 8-2013; 447-4572152-26502152-2669CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S2152265013000487info:eu-repo/semantics/altIdentifier/doi/10.1016/j.clml.2013.02.019info:eu-repo/semantics/altIdentifier/url/https://www.clinical-lymphoma-myeloma-leukemia.com/article/S2152-2650(13)00048-7/abstractinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:56:27Zoai:ri.conicet.gov.ar:11336/84634instacron: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 09:56:27.548CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Immunoglobulin gene rearrangements and mutational status in argentinian patients with chronic lymphocytic leukemia
title Immunoglobulin gene rearrangements and mutational status in argentinian patients with chronic lymphocytic leukemia
spellingShingle Immunoglobulin gene rearrangements and mutational status in argentinian patients with chronic lymphocytic leukemia
Stanganelli, Carmen Graciela
CHRONIC LYMPHOCYTIC LEUKEMIA
FLUORESCENCE IN SITU HYBRIDIZATION
IMMUNOGLOBULIN HEAVY CHAIN VARIABLE GENE
SOMATIC HYPERMUTATION
STEREOTYPED B-CELL RECEPTOR
title_short Immunoglobulin gene rearrangements and mutational status in argentinian patients with chronic lymphocytic leukemia
title_full Immunoglobulin gene rearrangements and mutational status in argentinian patients with chronic lymphocytic leukemia
title_fullStr Immunoglobulin gene rearrangements and mutational status in argentinian patients with chronic lymphocytic leukemia
title_full_unstemmed Immunoglobulin gene rearrangements and mutational status in argentinian patients with chronic lymphocytic leukemia
title_sort Immunoglobulin gene rearrangements and mutational status in argentinian patients with chronic lymphocytic leukemia
dc.creator.none.fl_str_mv Stanganelli, Carmen Graciela
Travella, Ana Carolina
Bezares, Raimundo F.
Slavutsky, Irma Rosa
author Stanganelli, Carmen Graciela
author_facet Stanganelli, Carmen Graciela
Travella, Ana Carolina
Bezares, Raimundo F.
Slavutsky, Irma Rosa
author_role author
author2 Travella, Ana Carolina
Bezares, Raimundo F.
Slavutsky, Irma Rosa
author2_role author
author
author
dc.subject.none.fl_str_mv CHRONIC LYMPHOCYTIC LEUKEMIA
FLUORESCENCE IN SITU HYBRIDIZATION
IMMUNOGLOBULIN HEAVY CHAIN VARIABLE GENE
SOMATIC HYPERMUTATION
STEREOTYPED B-CELL RECEPTOR
topic CHRONIC LYMPHOCYTIC LEUKEMIA
FLUORESCENCE IN SITU HYBRIDIZATION
IMMUNOGLOBULIN HEAVY CHAIN VARIABLE GENE
SOMATIC HYPERMUTATION
STEREOTYPED B-CELL RECEPTOR
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Background: Chronic lymphocytic leukemia (CLL) is a clinically heterogeneous disease. The mutational status of the immunoglobulin heavy chain variable (IGHV) region represents one of the best prognostic markers and defines 2 disease subgroups: mutated (M-CLL) and unmutated (UM-CLL), with different clinical course. Materials and Methods: IGHV-D-J gene rearrangements and mutational status were analyzed in 73 Argentinian patients with CLL, 22 previously treated, by reverse transcriptase-polymerase chain reaction and bidirectional sequencing. The results were compared with those reported in other geographic regions. Fluorescence in situ hybridization analysis was also performed. Results: A total of 43 (58.9%) cases were of patients with M-CLL, and 30 (41.1%) were patients with UM-CLL. Deletion of chromosome 13q14 as a single alteration was more frequently observed in the M-CLL group (48%) than in the UM-CLL group (24%). In the M-CLL group, the proportion of cases with deletion of chromosome 13q14 was significantly higher than those with +12 and those with deletions of chromosomes 17p and 11q (P =.003). The most frequently used IGHV families were IGHV3 > IGHV1 > IGHV4, which are different from those observed in Asian, Brazilian, and Uruguayan series. The IGHV3-23 gene (10.8%) was the most commonly used, followed by IGHV1-69 (9.5%), IGHV4-59 and IGHV2-5 (6.8% each), and IGHV3-21 and IGHV3-30 (5.4% each). IGHV4-34 showed the lowest frequency (2.7%) in our cohort compared with published data, whereas IGHV4-59, IGHV3-72, and IGHV2-5 were overexpressed in our series. Stereotyped HCDR3 (heavy chain complementary determining region 3) was found in 9.5% of patients. Conclusions: Our results showed that Argentinian patients with CLL display an IGHV gene usage that resembles that observed in Western countries and exhibited interesting similarities and differences with respect to published series from other Latin American populations, which reflect variations in the genetic background.
Fil: Stanganelli, Carmen Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: Travella, Ana Carolina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: Bezares, Raimundo F.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Dr. Teodoro Álvarez"; Argentina
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
description Background: Chronic lymphocytic leukemia (CLL) is a clinically heterogeneous disease. The mutational status of the immunoglobulin heavy chain variable (IGHV) region represents one of the best prognostic markers and defines 2 disease subgroups: mutated (M-CLL) and unmutated (UM-CLL), with different clinical course. Materials and Methods: IGHV-D-J gene rearrangements and mutational status were analyzed in 73 Argentinian patients with CLL, 22 previously treated, by reverse transcriptase-polymerase chain reaction and bidirectional sequencing. The results were compared with those reported in other geographic regions. Fluorescence in situ hybridization analysis was also performed. Results: A total of 43 (58.9%) cases were of patients with M-CLL, and 30 (41.1%) were patients with UM-CLL. Deletion of chromosome 13q14 as a single alteration was more frequently observed in the M-CLL group (48%) than in the UM-CLL group (24%). In the M-CLL group, the proportion of cases with deletion of chromosome 13q14 was significantly higher than those with +12 and those with deletions of chromosomes 17p and 11q (P =.003). The most frequently used IGHV families were IGHV3 > IGHV1 > IGHV4, which are different from those observed in Asian, Brazilian, and Uruguayan series. The IGHV3-23 gene (10.8%) was the most commonly used, followed by IGHV1-69 (9.5%), IGHV4-59 and IGHV2-5 (6.8% each), and IGHV3-21 and IGHV3-30 (5.4% each). IGHV4-34 showed the lowest frequency (2.7%) in our cohort compared with published data, whereas IGHV4-59, IGHV3-72, and IGHV2-5 were overexpressed in our series. Stereotyped HCDR3 (heavy chain complementary determining region 3) was found in 9.5% of patients. Conclusions: Our results showed that Argentinian patients with CLL display an IGHV gene usage that resembles that observed in Western countries and exhibited interesting similarities and differences with respect to published series from other Latin American populations, which reflect variations in the genetic background.
publishDate 2013
dc.date.none.fl_str_mv 2013-08
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/11336/84634
Stanganelli, Carmen Graciela; Travella, Ana Carolina; Bezares, Raimundo F.; Slavutsky, Irma Rosa; Immunoglobulin gene rearrangements and mutational status in argentinian patients with chronic lymphocytic leukemia; Elsevier Inc.; Clinical Lymphoma, Myeloma and Leukemia; 13; 4; 8-2013; 447-457
2152-2650
2152-2669
CONICET Digital
CONICET
url http://hdl.handle.net/11336/84634
identifier_str_mv Stanganelli, Carmen Graciela; Travella, Ana Carolina; Bezares, Raimundo F.; Slavutsky, Irma Rosa; Immunoglobulin gene rearrangements and mutational status in argentinian patients with chronic lymphocytic leukemia; Elsevier Inc.; Clinical Lymphoma, Myeloma and Leukemia; 13; 4; 8-2013; 447-457
2152-2650
2152-2669
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S2152265013000487
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.clml.2013.02.019
info:eu-repo/semantics/altIdentifier/url/https://www.clinical-lymphoma-myeloma-leukemia.com/article/S2152-2650(13)00048-7/abstract
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
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rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Elsevier Inc.
publisher.none.fl_str_mv Elsevier Inc.
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
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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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