Molecular approach to diagnose BCR/ABL negative chronic myeloproliferative neoplasms
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Publication Date: | 2011 |
Other Authors: | |
Format: | Article |
Language: | eng |
Source: | Revista brasileira de hematologia e hemoterapia (Online) |
Download full: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842011000400014 |
Summary: | Chronic myeloproliferative neoplasms arise from clonal proliferation of hematopoietic stem cells. According to the World Health Organization myeloproliferative neoplasms are classified as: chronic myelogenous leukemia, polycythemia vera, essential thrombocythemia, primary myelofibrosis, chronic neutrophilic leukemia, chronic eosinophilic leukemia, hypereosinophilic syndrome, mast cell disease, and unclassifiable myeloproliferative neoplasms. In the revised 2008 WHO diagnostic criteria for myeloproliferative neoplasms, mutation screening for JAK2V617F is considered a major criterion for polycythemia vera diagnosis and also for essential thrombocythemia and primary myelofibrosis, the presence of this mutation represents a clonal marker. There are currently two hypotheses explaining the role of the JAK2V617F mutation in chronic myeloproliferative neoplasms. According to these theories, the mutation plays either a primary or secondary role in disease development. The discovery of the JAK2V617F mutation has been essential in understanding the genetic basis of chronic myeloproliferative neoplasms, providing some idea on how a single mutation can result in three different chronic myeloproliferative neoplasm phenotypes. But there are still some issues to be clarified. Thus, studies are still needed to determine specific molecular markers for each subtype of chronic myeloproliferative neoplasm. |
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Molecular approach to diagnose BCR/ABL negative chronic myeloproliferative neoplasmsMyelodysplastic-Myeloproliferative diseasesHematologic neoplasmMutationAK2V617FChronic myeloproliferative neoplasms arise from clonal proliferation of hematopoietic stem cells. According to the World Health Organization myeloproliferative neoplasms are classified as: chronic myelogenous leukemia, polycythemia vera, essential thrombocythemia, primary myelofibrosis, chronic neutrophilic leukemia, chronic eosinophilic leukemia, hypereosinophilic syndrome, mast cell disease, and unclassifiable myeloproliferative neoplasms. In the revised 2008 WHO diagnostic criteria for myeloproliferative neoplasms, mutation screening for JAK2V617F is considered a major criterion for polycythemia vera diagnosis and also for essential thrombocythemia and primary myelofibrosis, the presence of this mutation represents a clonal marker. There are currently two hypotheses explaining the role of the JAK2V617F mutation in chronic myeloproliferative neoplasms. According to these theories, the mutation plays either a primary or secondary role in disease development. The discovery of the JAK2V617F mutation has been essential in understanding the genetic basis of chronic myeloproliferative neoplasms, providing some idea on how a single mutation can result in three different chronic myeloproliferative neoplasm phenotypes. But there are still some issues to be clarified. Thus, studies are still needed to determine specific molecular markers for each subtype of chronic myeloproliferative neoplasm.Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular2011-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842011000400014Revista Brasileira de Hematologia e Hemoterapia v.33 n.4 2011reponame:Revista brasileira de hematologia e hemoterapia (Online)instname:Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)instacron:ABHHTC10.5581/1516-8484.20110079info:eu-repo/semantics/openAccessBarcelos,Michelle MaccariniSantos-Silva,Maria Cláudiaeng2011-09-20T00:00:00Zoai:scielo:S1516-84842011000400014Revistahttp://www.rbhh.org/pt/archivo/https://old.scielo.br/oai/scielo-oai.phpsbhh@terra.com.br||secretaria@rbhh.org1806-08701516-8484opendoar:2011-09-20T00:00Revista brasileira de hematologia e hemoterapia (Online) - Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)false |
dc.title.none.fl_str_mv |
Molecular approach to diagnose BCR/ABL negative chronic myeloproliferative neoplasms |
title |
Molecular approach to diagnose BCR/ABL negative chronic myeloproliferative neoplasms |
spellingShingle |
Molecular approach to diagnose BCR/ABL negative chronic myeloproliferative neoplasms Barcelos,Michelle Maccarini Myelodysplastic-Myeloproliferative diseases Hematologic neoplasm Mutation AK2V617F |
title_short |
Molecular approach to diagnose BCR/ABL negative chronic myeloproliferative neoplasms |
title_full |
Molecular approach to diagnose BCR/ABL negative chronic myeloproliferative neoplasms |
title_fullStr |
Molecular approach to diagnose BCR/ABL negative chronic myeloproliferative neoplasms |
title_full_unstemmed |
Molecular approach to diagnose BCR/ABL negative chronic myeloproliferative neoplasms |
title_sort |
Molecular approach to diagnose BCR/ABL negative chronic myeloproliferative neoplasms |
author |
Barcelos,Michelle Maccarini |
author_facet |
Barcelos,Michelle Maccarini Santos-Silva,Maria Cláudia |
author_role |
author |
author2 |
Santos-Silva,Maria Cláudia |
author2_role |
author |
dc.contributor.author.fl_str_mv |
Barcelos,Michelle Maccarini Santos-Silva,Maria Cláudia |
dc.subject.por.fl_str_mv |
Myelodysplastic-Myeloproliferative diseases Hematologic neoplasm Mutation AK2V617F |
topic |
Myelodysplastic-Myeloproliferative diseases Hematologic neoplasm Mutation AK2V617F |
description |
Chronic myeloproliferative neoplasms arise from clonal proliferation of hematopoietic stem cells. According to the World Health Organization myeloproliferative neoplasms are classified as: chronic myelogenous leukemia, polycythemia vera, essential thrombocythemia, primary myelofibrosis, chronic neutrophilic leukemia, chronic eosinophilic leukemia, hypereosinophilic syndrome, mast cell disease, and unclassifiable myeloproliferative neoplasms. In the revised 2008 WHO diagnostic criteria for myeloproliferative neoplasms, mutation screening for JAK2V617F is considered a major criterion for polycythemia vera diagnosis and also for essential thrombocythemia and primary myelofibrosis, the presence of this mutation represents a clonal marker. There are currently two hypotheses explaining the role of the JAK2V617F mutation in chronic myeloproliferative neoplasms. According to these theories, the mutation plays either a primary or secondary role in disease development. The discovery of the JAK2V617F mutation has been essential in understanding the genetic basis of chronic myeloproliferative neoplasms, providing some idea on how a single mutation can result in three different chronic myeloproliferative neoplasm phenotypes. But there are still some issues to be clarified. Thus, studies are still needed to determine specific molecular markers for each subtype of chronic myeloproliferative neoplasm. |
publishDate |
2011 |
dc.date.none.fl_str_mv |
2011-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842011000400014 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842011000400014 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.5581/1516-8484.20110079 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular |
publisher.none.fl_str_mv |
Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular |
dc.source.none.fl_str_mv |
Revista Brasileira de Hematologia e Hemoterapia v.33 n.4 2011 reponame:Revista brasileira de hematologia e hemoterapia (Online) instname:Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC) instacron:ABHHTC |
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Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC) |
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ABHHTC |
institution |
ABHHTC |
reponame_str |
Revista brasileira de hematologia e hemoterapia (Online) |
collection |
Revista brasileira de hematologia e hemoterapia (Online) |
repository.name.fl_str_mv |
Revista brasileira de hematologia e hemoterapia (Online) - Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC) |
repository.mail.fl_str_mv |
sbhh@terra.com.br||secretaria@rbhh.org |
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1754213111491985408 |