Insertion (4;11)(q27;q24q21) in a patient with essential thrombocythemia with progression to myelofibrosis

Autores
Gargallo, Patricia Martha; Hagemeijer, Anne; Vassallu, Patricia; Kornblihtt, Laura Inés; Heller, Paula Graciela; Molinas, Felisa Concepción; Larripa, Irene Beatriz
Año de publicación
2004
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
We report a case of essential thrombocythemia (ET) in a 39-year-old woman who developed myelofibrosis at follow-up. The cytogenetic and fluorescence in situ hybridization analyses revealed a pathologic clone with the following previously unreported karyotype: 46,XX,ins(4;11)(q27;q24q21). We cannot conclude that the presence of this inverted insertion was associated with the overproduction of platelets, but documentation of more cases with chromosomal abnormalities and ET should lead to identifying different candidate genes involved in the neoplastic growth.
Fil: Gargallo, Patricia Martha. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Hagemeijer, Anne. Catholic University of Leuven. Center for Human Genetics; Bélgica
Fil: Vassallu, Patricia. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Kornblihtt, Laura Inés. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Heller, Paula Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Molinas, Felisa Concepción. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Larripa, Irene Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
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:11336/110545
Acceder
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spelling Insertion (4;11)(q27;q24q21) in a patient with essential thrombocythemia with progression to myelofibrosisGargallo, Patricia MarthaHagemeijer, AnneVassallu, PatriciaKornblihtt, Laura InésHeller, Paula GracielaMolinas, Felisa ConcepciónLarripa, Irene Beatrizhttps://purl.org/becyt/ford/3.5https://purl.org/becyt/ford/3We report a case of essential thrombocythemia (ET) in a 39-year-old woman who developed myelofibrosis at follow-up. The cytogenetic and fluorescence in situ hybridization analyses revealed a pathologic clone with the following previously unreported karyotype: 46,XX,ins(4;11)(q27;q24q21). We cannot conclude that the presence of this inverted insertion was associated with the overproduction of platelets, but documentation of more cases with chromosomal abnormalities and ET should lead to identifying different candidate genes involved in the neoplastic growth.Fil: Gargallo, Patricia Martha. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Hagemeijer, Anne. Catholic University of Leuven. Center for Human Genetics; BélgicaFil: Vassallu, Patricia. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Kornblihtt, Laura Inés. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Heller, Paula Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Molinas, Felisa Concepción. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Larripa, Irene Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaElsevier Science Inc2004-10info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/mswordapplication/pdfhttp://hdl.handle.net/11336/110545Gargallo, Patricia Martha; Hagemeijer, Anne; Vassallu, Patricia; Kornblihtt, Laura Inés; Heller, Paula Graciela; et al.; Insertion (4;11)(q27;q24q21) in a patient with essential thrombocythemia with progression to myelofibrosis; Elsevier Science Inc; Cancer Genetics And Cytogenetics; 154; 1; 10-2004; 72-760165-4608CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.cancergeneticsjournal.org/article/S0165-4608(04)00062-7/fulltextinfo:eu-repo/semantics/altIdentifier/doi/10.1016/j.cancergencyto.2004.01.025info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-22T11:22:10Zoai:ri.conicet.gov.ar:11336/110545instacron: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:34982025-10-22 11:22:11.275CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Insertion (4;11)(q27;q24q21) in a patient with essential thrombocythemia with progression to myelofibrosis
title Insertion (4;11)(q27;q24q21) in a patient with essential thrombocythemia with progression to myelofibrosis
spellingShingle Insertion (4;11)(q27;q24q21) in a patient with essential thrombocythemia with progression to myelofibrosis
Gargallo, Patricia Martha
title_short Insertion (4;11)(q27;q24q21) in a patient with essential thrombocythemia with progression to myelofibrosis
title_full Insertion (4;11)(q27;q24q21) in a patient with essential thrombocythemia with progression to myelofibrosis
title_fullStr Insertion (4;11)(q27;q24q21) in a patient with essential thrombocythemia with progression to myelofibrosis
title_full_unstemmed Insertion (4;11)(q27;q24q21) in a patient with essential thrombocythemia with progression to myelofibrosis
title_sort Insertion (4;11)(q27;q24q21) in a patient with essential thrombocythemia with progression to myelofibrosis
dc.creator.none.fl_str_mv Gargallo, Patricia Martha
Hagemeijer, Anne
Vassallu, Patricia
Kornblihtt, Laura Inés
Heller, Paula Graciela
Molinas, Felisa Concepción
Larripa, Irene Beatriz
author Gargallo, Patricia Martha
author_facet Gargallo, Patricia Martha
Hagemeijer, Anne
Vassallu, Patricia
Kornblihtt, Laura Inés
Heller, Paula Graciela
Molinas, Felisa Concepción
Larripa, Irene Beatriz
author_role author
author2 Hagemeijer, Anne
Vassallu, Patricia
Kornblihtt, Laura Inés
Heller, Paula Graciela
Molinas, Felisa Concepción
Larripa, Irene Beatriz
author2_role author
author
author
author
author
author
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.5
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv We report a case of essential thrombocythemia (ET) in a 39-year-old woman who developed myelofibrosis at follow-up. The cytogenetic and fluorescence in situ hybridization analyses revealed a pathologic clone with the following previously unreported karyotype: 46,XX,ins(4;11)(q27;q24q21). We cannot conclude that the presence of this inverted insertion was associated with the overproduction of platelets, but documentation of more cases with chromosomal abnormalities and ET should lead to identifying different candidate genes involved in the neoplastic growth.
Fil: Gargallo, Patricia Martha. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Hagemeijer, Anne. Catholic University of Leuven. Center for Human Genetics; Bélgica
Fil: Vassallu, Patricia. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Kornblihtt, Laura Inés. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Heller, Paula Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Molinas, Felisa Concepción. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Larripa, Irene Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
description We report a case of essential thrombocythemia (ET) in a 39-year-old woman who developed myelofibrosis at follow-up. The cytogenetic and fluorescence in situ hybridization analyses revealed a pathologic clone with the following previously unreported karyotype: 46,XX,ins(4;11)(q27;q24q21). We cannot conclude that the presence of this inverted insertion was associated with the overproduction of platelets, but documentation of more cases with chromosomal abnormalities and ET should lead to identifying different candidate genes involved in the neoplastic growth.
publishDate 2004
dc.date.none.fl_str_mv 2004-10
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/11336/110545
Gargallo, Patricia Martha; Hagemeijer, Anne; Vassallu, Patricia; Kornblihtt, Laura Inés; Heller, Paula Graciela; et al.; Insertion (4;11)(q27;q24q21) in a patient with essential thrombocythemia with progression to myelofibrosis; Elsevier Science Inc; Cancer Genetics And Cytogenetics; 154; 1; 10-2004; 72-76
0165-4608
CONICET Digital
CONICET
url http://hdl.handle.net/11336/110545
identifier_str_mv Gargallo, Patricia Martha; Hagemeijer, Anne; Vassallu, Patricia; Kornblihtt, Laura Inés; Heller, Paula Graciela; et al.; Insertion (4;11)(q27;q24q21) in a patient with essential thrombocythemia with progression to myelofibrosis; Elsevier Science Inc; Cancer Genetics And Cytogenetics; 154; 1; 10-2004; 72-76
0165-4608
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.cancergeneticsjournal.org/article/S0165-4608(04)00062-7/fulltext
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.cancergencyto.2004.01.025
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/msword
application/pdf
dc.publisher.none.fl_str_mv Elsevier Science Inc
publisher.none.fl_str_mv Elsevier Science 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 12.982451

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