Please use this identifier to cite or link to this item: http://repositorio.unifesp.br/handle/11600/6819
Title: Philadelphia-negative chronic myeloproliferative neoplasms
Authors: Bittencourt, Rosane Isabel
Vassallo, Jose
Chauffaille, Maria de Lourdes Lopes Ferrari [UNIFESP]
Xavier, Sandra Guerra
Pagnano, Katia Borgia
Nascimento, Ana Clara Kneese
De Souza, Carmino Antonio
Chiattone, Carlos Sergio
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
Keywords: myeloproliferative disorders
thrombocytosis
polycythemia vera
primary myelofibrosis
Issue Date: 1-Jan-2012
Publisher: Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular
Citation: Revista Brasileira de Hematologia e Hemoterapia. Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular, v. 34, n. 2, p. 140-149, 2012.
Abstract: 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.
URI: http://repositorio.unifesp.br/handle/11600/6819
ISSN: 1516-8484
Other Identifiers: http://dx.doi.org/10.5581/1516-8484.20120034
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