Philadelphia-negative chronic myeloproliferative neoplasms

Philadelphia-negative chronic myeloproliferative neoplasms

Autor Bittencourt, Rosane Isabel Google Scholar
Vassallo, Jose Google Scholar
Chauffaille, Maria de Lourdes Lopes Ferrari Autor UNIFESP Google Scholar
Xavier, Sandra Guerra Google Scholar
Pagnano, Katia Borgia Google Scholar
Nascimento, Ana Clara Kneese Google Scholar
De Souza, Carmino Antonio Google Scholar
Chiattone, Carlos Sergio Google Scholar
Instituição Hospital das Clinicas da Universidade Federal do Rio Grande do Sul Hematology Department
Universidade Estadual de Campinas (UNICAMP)
Universidade Federal de São Paulo (UNIFESP)
Universidade Federal de Minas Gerais Hematology Department
Faculdade de Ciências Médicas da Santa Casa de São Paulo Hematology Department
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.
Palavra-chave myeloproliferative disorders
thrombocytosis
polycythemia vera
primary myelofibrosis
Idioma Inglês
Data de publicação 2012-01-01
Publicado em Revista Brasileira de Hematologia e Hemoterapia. Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular, v. 34, n. 2, p. 140-149, 2012.
ISSN 1516-8484 (Sherpa/Romeo)
Publicador Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular
Extensão 140-149
Fonte http://dx.doi.org/10.5581/1516-8484.20120034
Direito de acesso Acesso aberto Open Access
Tipo Artigo
SciELO S1516-84842012000200014 (estatísticas na SciELO)
Endereço permanente http://repositorio.unifesp.br/handle/11600/6819

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