Philadelphia-negative chronic myeloproliferative neoplasms
Autor(a) principal: | |
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Data de Publicação: | 2012 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/94911 |
Resumo: | Chronic myeloproliferative diseases without the Philadelphia chromosome marker (Ph-), although first described 60 years ago, only became the subject of interest after the turn of the millennium. In 2001, the World Health Organization (WHO) defined the classification of this group of diseases and in 2008 they were renamed myeloproliferative neoplasms based on morphological, cytogenetic and molecular features. In 2005, the identification of a recurrent molecular abnormality characterized by a gain of function with a mutation in the gene encoding Janus kinase 2 (JAK2) paved the way for greater knowledge of the pathophysiology of myeloproliferative neoplasms. The JAK2 mutation is found in 90-98% of polycythemia vera and in about 50% essential thrombocytosis and primary myelofibrosis. In addition to the JAK2 mutation, other mutations involving TET2 (ten-eleven translocation), LNK (a membrane-bound adaptor protein); IDH1/2 (isocitrate dehydrogenase 1/2 enzyme); ASXL1 (additional sex combs-like 1) genes were found in myeloproliferative neoplasms thus showing the importance of identifying molecular genetic alterations to confirm diagnosis, guide treatment and improve our understanding of the biology of these diseases. Currently, polycythemia vera, essential thrombocytosis, myelofibrosis, chronic neutrophilic leukemia, chronic eosinophilic leukemia and mastocytosis are included in this group of myeloproliferative neoplasms, but are considered different situations with individualized diagnostic methods and treatment. This review updates pathogenic aspects, molecular genetic alterations, the fundamental criteria for diagnosis and the best approach for each of these entities. |
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Bittencourt, Rosane IsabelVassallo, JoseChauffaille, Maria de Lourdes Lopes FerrariXavier, Sandra GuerraPagnano, Katia Borgia BarbosaNascimento, Ana Clara Kneese Virgilio doSouza, Cármino Antônio deChiattone, Carlos Sérgio2014-05-06T02:04:46Z20121516-8484http://hdl.handle.net/10183/94911000876684Chronic myeloproliferative diseases without the Philadelphia chromosome marker (Ph-), although first described 60 years ago, only became the subject of interest after the turn of the millennium. In 2001, the World Health Organization (WHO) defined the classification of this group of diseases and in 2008 they were renamed myeloproliferative neoplasms based on morphological, cytogenetic and molecular features. In 2005, the identification of a recurrent molecular abnormality characterized by a gain of function with a mutation in the gene encoding Janus kinase 2 (JAK2) paved the way for greater knowledge of the pathophysiology of myeloproliferative neoplasms. The JAK2 mutation is found in 90-98% of polycythemia vera and in about 50% essential thrombocytosis and primary myelofibrosis. In addition to the JAK2 mutation, other mutations involving TET2 (ten-eleven translocation), LNK (a membrane-bound adaptor protein); IDH1/2 (isocitrate dehydrogenase 1/2 enzyme); ASXL1 (additional sex combs-like 1) genes were found in myeloproliferative neoplasms thus showing the importance of identifying molecular genetic alterations to confirm diagnosis, guide treatment and improve our understanding of the biology of these diseases. Currently, polycythemia vera, essential thrombocytosis, myelofibrosis, chronic neutrophilic leukemia, chronic eosinophilic leukemia and mastocytosis are included in this group of myeloproliferative neoplasms, but are considered different situations with individualized diagnostic methods and treatment. This review updates pathogenic aspects, molecular genetic alterations, the fundamental criteria for diagnosis and the best approach for each of these entities.application/pdfengRevista Brasileira de Hematologia e Hemoterapia. São Paulo. vol. 34, n.2 (2012), p. 140-149Transtornos mieloproliferativosTrombocitosePolicitemia veraMielofibrose primáriaPolycythemia veraPrimary myelofibrosisThrombocytosisMyeloproliferative disordersPhiladelphia-negative chronic myeloproliferative neoplasmsinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL000876684.pdf000876684.pdfTexto completo (inglês)application/pdf1281605http://www.lume.ufrgs.br/bitstream/10183/94911/1/000876684.pdf3fcad88b1a4ebf920275a018ac18cfb3MD51TEXT000876684.pdf.txt000876684.pdf.txtExtracted Texttext/plain48694http://www.lume.ufrgs.br/bitstream/10183/94911/2/000876684.pdf.txta75da7042aef6649c1b57ad28140e1ddMD52THUMBNAIL000876684.pdf.jpg000876684.pdf.jpgGenerated Thumbnailimage/jpeg2117http://www.lume.ufrgs.br/bitstream/10183/94911/3/000876684.pdf.jpgfda794239b7b59cea5b4a63eeebb33feMD5310183/949112021-07-09 04:32:50.571962oai:www.lume.ufrgs.br:10183/94911Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2021-07-09T07:32:50Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Philadelphia-negative chronic myeloproliferative neoplasms |
title |
Philadelphia-negative chronic myeloproliferative neoplasms |
spellingShingle |
Philadelphia-negative chronic myeloproliferative neoplasms Bittencourt, Rosane Isabel Transtornos mieloproliferativos Trombocitose Policitemia vera Mielofibrose primária Polycythemia vera Primary myelofibrosis Thrombocytosis Myeloproliferative disorders |
title_short |
Philadelphia-negative chronic myeloproliferative neoplasms |
title_full |
Philadelphia-negative chronic myeloproliferative neoplasms |
title_fullStr |
Philadelphia-negative chronic myeloproliferative neoplasms |
title_full_unstemmed |
Philadelphia-negative chronic myeloproliferative neoplasms |
title_sort |
Philadelphia-negative chronic myeloproliferative neoplasms |
author |
Bittencourt, Rosane Isabel |
author_facet |
Bittencourt, Rosane Isabel Vassallo, Jose Chauffaille, Maria de Lourdes Lopes Ferrari Xavier, Sandra Guerra Pagnano, Katia Borgia Barbosa Nascimento, Ana Clara Kneese Virgilio do Souza, Cármino Antônio de Chiattone, Carlos Sérgio |
author_role |
author |
author2 |
Vassallo, Jose Chauffaille, Maria de Lourdes Lopes Ferrari Xavier, Sandra Guerra Pagnano, Katia Borgia Barbosa Nascimento, Ana Clara Kneese Virgilio do Souza, Cármino Antônio de Chiattone, Carlos Sérgio |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Bittencourt, Rosane Isabel Vassallo, Jose Chauffaille, Maria de Lourdes Lopes Ferrari Xavier, Sandra Guerra Pagnano, Katia Borgia Barbosa Nascimento, Ana Clara Kneese Virgilio do Souza, Cármino Antônio de Chiattone, Carlos Sérgio |
dc.subject.por.fl_str_mv |
Transtornos mieloproliferativos Trombocitose Policitemia vera Mielofibrose primária |
topic |
Transtornos mieloproliferativos Trombocitose Policitemia vera Mielofibrose primária Polycythemia vera Primary myelofibrosis Thrombocytosis Myeloproliferative disorders |
dc.subject.eng.fl_str_mv |
Polycythemia vera Primary myelofibrosis Thrombocytosis Myeloproliferative disorders |
description |
Chronic myeloproliferative diseases without the Philadelphia chromosome marker (Ph-), although first described 60 years ago, only became the subject of interest after the turn of the millennium. In 2001, the World Health Organization (WHO) defined the classification of this group of diseases and in 2008 they were renamed myeloproliferative neoplasms based on morphological, cytogenetic and molecular features. In 2005, the identification of a recurrent molecular abnormality characterized by a gain of function with a mutation in the gene encoding Janus kinase 2 (JAK2) paved the way for greater knowledge of the pathophysiology of myeloproliferative neoplasms. The JAK2 mutation is found in 90-98% of polycythemia vera and in about 50% essential thrombocytosis and primary myelofibrosis. In addition to the JAK2 mutation, other mutations involving TET2 (ten-eleven translocation), LNK (a membrane-bound adaptor protein); IDH1/2 (isocitrate dehydrogenase 1/2 enzyme); ASXL1 (additional sex combs-like 1) genes were found in myeloproliferative neoplasms thus showing the importance of identifying molecular genetic alterations to confirm diagnosis, guide treatment and improve our understanding of the biology of these diseases. Currently, polycythemia vera, essential thrombocytosis, myelofibrosis, chronic neutrophilic leukemia, chronic eosinophilic leukemia and mastocytosis are included in this group of myeloproliferative neoplasms, but are considered different situations with individualized diagnostic methods and treatment. This review updates pathogenic aspects, molecular genetic alterations, the fundamental criteria for diagnosis and the best approach for each of these entities. |
publishDate |
2012 |
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2012 |
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2014-05-06T02:04:46Z |
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http://hdl.handle.net/10183/94911 |
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1516-8484 |
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000876684 |
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dc.language.iso.fl_str_mv |
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dc.relation.ispartof.pt_BR.fl_str_mv |
Revista Brasileira de Hematologia e Hemoterapia. São Paulo. vol. 34, n.2 (2012), p. 140-149 |
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