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
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/84634
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oai:ri.conicet.gov.ar:11336/84634 |
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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/ |
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 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) |
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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1844613695370428416 |
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13.070432 |