New recurrent chromosome alterations in patients with multiple myeloma and plasma cell leukemia

Autores
Stella, Flavia; Pedrazzini, Estela Marta; Rodríguez, A.; Baialardo, E.; Kusminsky, Gustavo Daniel; Arbelbide, J.; Fantl, Dorotea; Slavutsky, Irma Rosa
Año de publicación
2011
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Chromosome abnormalities detected in metaphases from multiple myeloma (MM) cells have a clear impact on prognosis and response to therapy. Thirteen out of 50 (26%) patients with plasma cell disorders and abnormal karyotypes (11 with MM and 2 with plasma cell leukemia (PCL)) were selected for inclusion in the present report based on the presence of karyotypes with new and/or infrequent structural aberrations. Thirty-three new rearrangements, including a novel recurrent aberration: psu dic(5;1)(q35;q10), were detected. Chromosome 1 was the most frequently involved. Gains of genetic material (57%) were noted more frequently than losses (43%). Three rearrangements that were observed only once in the literature appear to be recurrent from our data: del(16)(q13), del(5)(p13) and i(3)(q10), the latter being a single structural aberration in the karyotype. Clinical parameters from our series were compared with 2 control groups: 20 MM cases with recurrent aberrations in MM/PCL with a similar distribution of abnormalities associated with poor prognosis (group 1), and 40 with normal karyotypes and fluorescence in situ hybridization analysis (group 2). Significantly increased serum calcium levels (p = 0.022) in patients with new and/or infrequent chromosome changes with respect to both control groups, and a higher percentage of bone marrow plasma cell infiltration (p = 0.005), β 2 microglobulin, and lactate dehydrogenase levels (p < 0.0001) compared to group 2 were observed. Our results suggest that some of these novel rearrangements may be capable to deregulate genetic mechanisms related to the development and/or progression of the disease. The finding of new recurrent aberrations supports this hypothesis.
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. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Pedrazzini, Estela Marta. Universidad Nacional del Noroeste de la Provincia de Buenos Aires; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: Rodríguez, A.. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Baialardo, E.. Hospital Universitario Austral; Argentina
Fil: Kusminsky, Gustavo Daniel. Hospital Universitario Austral; Argentina
Fil: Arbelbide, J.. Hospital Universitario Austral; Argentina
Fil: Fantl, Dorotea. Instituto Universidad Escuela de Medicina del Hospital Italiano; Argentina. Universidad Nacional del Noroeste de la Provincia de Buenos Aires; 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. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Materia
CHROMOSOME ALTERATIONS
CYTOGENETICS
FLUORESCENCE IN SITU HYBRIDIZATION
MULTIPLE MYELOMA
PLASMA CELL LEUKEMIA
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:11336/96110

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network_name_str CONICET Digital (CONICET)
spelling New recurrent chromosome alterations in patients with multiple myeloma and plasma cell leukemiaStella, FlaviaPedrazzini, Estela MartaRodríguez, A.Baialardo, E.Kusminsky, Gustavo DanielArbelbide, J.Fantl, DoroteaSlavutsky, Irma RosaCHROMOSOME ALTERATIONSCYTOGENETICSFLUORESCENCE IN SITU HYBRIDIZATIONMULTIPLE MYELOMAPLASMA CELL LEUKEMIAhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Chromosome abnormalities detected in metaphases from multiple myeloma (MM) cells have a clear impact on prognosis and response to therapy. Thirteen out of 50 (26%) patients with plasma cell disorders and abnormal karyotypes (11 with MM and 2 with plasma cell leukemia (PCL)) were selected for inclusion in the present report based on the presence of karyotypes with new and/or infrequent structural aberrations. Thirty-three new rearrangements, including a novel recurrent aberration: psu dic(5;1)(q35;q10), were detected. Chromosome 1 was the most frequently involved. Gains of genetic material (57%) were noted more frequently than losses (43%). Three rearrangements that were observed only once in the literature appear to be recurrent from our data: del(16)(q13), del(5)(p13) and i(3)(q10), the latter being a single structural aberration in the karyotype. Clinical parameters from our series were compared with 2 control groups: 20 MM cases with recurrent aberrations in MM/PCL with a similar distribution of abnormalities associated with poor prognosis (group 1), and 40 with normal karyotypes and fluorescence in situ hybridization analysis (group 2). Significantly increased serum calcium levels (p = 0.022) in patients with new and/or infrequent chromosome changes with respect to both control groups, and a higher percentage of bone marrow plasma cell infiltration (p = 0.005), β 2 microglobulin, and lactate dehydrogenase levels (p < 0.0001) compared to group 2 were observed. Our results suggest that some of these novel rearrangements may be capable to deregulate genetic mechanisms related to the development and/or progression of the disease. The finding of new recurrent aberrations supports this hypothesis.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. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Pedrazzini, Estela Marta. Universidad Nacional del Noroeste de la Provincia de Buenos Aires; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: Rodríguez, A.. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Baialardo, E.. Hospital Universitario Austral; ArgentinaFil: Kusminsky, Gustavo Daniel. Hospital Universitario Austral; ArgentinaFil: Arbelbide, J.. Hospital Universitario Austral; ArgentinaFil: Fantl, Dorotea. Instituto Universidad Escuela de Medicina del Hospital Italiano; Argentina. Universidad Nacional del Noroeste de la Provincia de Buenos Aires; 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; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaKarger2011-08info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/96110Stella, Flavia; Pedrazzini, Estela Marta; Rodríguez, A.; Baialardo, E.; Kusminsky, Gustavo Daniel; et al.; New recurrent chromosome alterations in patients with multiple myeloma and plasma cell leukemia; Karger; Cytogenetic And Genome Research; 134; 4; 8-2011; 249-2591424-8581CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://content.karger.com/produktedb/produkte.asp?DOI=10.1159/000329479info:eu-repo/semantics/altIdentifier/doi/10.1159/000329479info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-15T15:41:03Zoai:ri.conicet.gov.ar:11336/96110instacron: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:34982025-10-15 15:41:03.792CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv New recurrent chromosome alterations in patients with multiple myeloma and plasma cell leukemia
title New recurrent chromosome alterations in patients with multiple myeloma and plasma cell leukemia
spellingShingle New recurrent chromosome alterations in patients with multiple myeloma and plasma cell leukemia
Stella, Flavia
CHROMOSOME ALTERATIONS
CYTOGENETICS
FLUORESCENCE IN SITU HYBRIDIZATION
MULTIPLE MYELOMA
PLASMA CELL LEUKEMIA
title_short New recurrent chromosome alterations in patients with multiple myeloma and plasma cell leukemia
title_full New recurrent chromosome alterations in patients with multiple myeloma and plasma cell leukemia
title_fullStr New recurrent chromosome alterations in patients with multiple myeloma and plasma cell leukemia
title_full_unstemmed New recurrent chromosome alterations in patients with multiple myeloma and plasma cell leukemia
title_sort New recurrent chromosome alterations in patients with multiple myeloma and plasma cell leukemia
dc.creator.none.fl_str_mv Stella, Flavia
Pedrazzini, Estela Marta
Rodríguez, A.
Baialardo, E.
Kusminsky, Gustavo Daniel
Arbelbide, J.
Fantl, Dorotea
Slavutsky, Irma Rosa
author Stella, Flavia
author_facet Stella, Flavia
Pedrazzini, Estela Marta
Rodríguez, A.
Baialardo, E.
Kusminsky, Gustavo Daniel
Arbelbide, J.
Fantl, Dorotea
Slavutsky, Irma Rosa
author_role author
author2 Pedrazzini, Estela Marta
Rodríguez, A.
Baialardo, E.
Kusminsky, Gustavo Daniel
Arbelbide, J.
Fantl, Dorotea
Slavutsky, Irma Rosa
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv CHROMOSOME ALTERATIONS
CYTOGENETICS
FLUORESCENCE IN SITU HYBRIDIZATION
MULTIPLE MYELOMA
PLASMA CELL LEUKEMIA
topic CHROMOSOME ALTERATIONS
CYTOGENETICS
FLUORESCENCE IN SITU HYBRIDIZATION
MULTIPLE MYELOMA
PLASMA CELL LEUKEMIA
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Chromosome abnormalities detected in metaphases from multiple myeloma (MM) cells have a clear impact on prognosis and response to therapy. Thirteen out of 50 (26%) patients with plasma cell disorders and abnormal karyotypes (11 with MM and 2 with plasma cell leukemia (PCL)) were selected for inclusion in the present report based on the presence of karyotypes with new and/or infrequent structural aberrations. Thirty-three new rearrangements, including a novel recurrent aberration: psu dic(5;1)(q35;q10), were detected. Chromosome 1 was the most frequently involved. Gains of genetic material (57%) were noted more frequently than losses (43%). Three rearrangements that were observed only once in the literature appear to be recurrent from our data: del(16)(q13), del(5)(p13) and i(3)(q10), the latter being a single structural aberration in the karyotype. Clinical parameters from our series were compared with 2 control groups: 20 MM cases with recurrent aberrations in MM/PCL with a similar distribution of abnormalities associated with poor prognosis (group 1), and 40 with normal karyotypes and fluorescence in situ hybridization analysis (group 2). Significantly increased serum calcium levels (p = 0.022) in patients with new and/or infrequent chromosome changes with respect to both control groups, and a higher percentage of bone marrow plasma cell infiltration (p = 0.005), β 2 microglobulin, and lactate dehydrogenase levels (p < 0.0001) compared to group 2 were observed. Our results suggest that some of these novel rearrangements may be capable to deregulate genetic mechanisms related to the development and/or progression of the disease. The finding of new recurrent aberrations supports this hypothesis.
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. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Pedrazzini, Estela Marta. Universidad Nacional del Noroeste de la Provincia de Buenos Aires; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: Rodríguez, A.. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Baialardo, E.. Hospital Universitario Austral; Argentina
Fil: Kusminsky, Gustavo Daniel. Hospital Universitario Austral; Argentina
Fil: Arbelbide, J.. Hospital Universitario Austral; Argentina
Fil: Fantl, Dorotea. Instituto Universidad Escuela de Medicina del Hospital Italiano; Argentina. Universidad Nacional del Noroeste de la Provincia de Buenos Aires; 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. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
description Chromosome abnormalities detected in metaphases from multiple myeloma (MM) cells have a clear impact on prognosis and response to therapy. Thirteen out of 50 (26%) patients with plasma cell disorders and abnormal karyotypes (11 with MM and 2 with plasma cell leukemia (PCL)) were selected for inclusion in the present report based on the presence of karyotypes with new and/or infrequent structural aberrations. Thirty-three new rearrangements, including a novel recurrent aberration: psu dic(5;1)(q35;q10), were detected. Chromosome 1 was the most frequently involved. Gains of genetic material (57%) were noted more frequently than losses (43%). Three rearrangements that were observed only once in the literature appear to be recurrent from our data: del(16)(q13), del(5)(p13) and i(3)(q10), the latter being a single structural aberration in the karyotype. Clinical parameters from our series were compared with 2 control groups: 20 MM cases with recurrent aberrations in MM/PCL with a similar distribution of abnormalities associated with poor prognosis (group 1), and 40 with normal karyotypes and fluorescence in situ hybridization analysis (group 2). Significantly increased serum calcium levels (p = 0.022) in patients with new and/or infrequent chromosome changes with respect to both control groups, and a higher percentage of bone marrow plasma cell infiltration (p = 0.005), β 2 microglobulin, and lactate dehydrogenase levels (p < 0.0001) compared to group 2 were observed. Our results suggest that some of these novel rearrangements may be capable to deregulate genetic mechanisms related to the development and/or progression of the disease. The finding of new recurrent aberrations supports this hypothesis.
publishDate 2011
dc.date.none.fl_str_mv 2011-08
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
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info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/96110
Stella, Flavia; Pedrazzini, Estela Marta; Rodríguez, A.; Baialardo, E.; Kusminsky, Gustavo Daniel; et al.; New recurrent chromosome alterations in patients with multiple myeloma and plasma cell leukemia; Karger; Cytogenetic And Genome Research; 134; 4; 8-2011; 249-259
1424-8581
CONICET Digital
CONICET
url http://hdl.handle.net/11336/96110
identifier_str_mv Stella, Flavia; Pedrazzini, Estela Marta; Rodríguez, A.; Baialardo, E.; Kusminsky, Gustavo Daniel; et al.; New recurrent chromosome alterations in patients with multiple myeloma and plasma cell leukemia; Karger; Cytogenetic And Genome Research; 134; 4; 8-2011; 249-259
1424-8581
CONICET Digital
CONICET
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