Revista Brasileira de Hematologia e Hemoterapia | |
Philadelphia-negative chronic myeloproliferative neoplasms | |
Rosane Isabel Bittencourt2  Jose Vassallo1  Maria De Lourdes Lopes Ferrari Chauffaille1  Sandra Guerra Xavier1  Katia Borgia Pagnano1  Ana Clara Kneese Nascimento1  Carmino Antonio De Souza1  Carlos Sergio Chiattone1  | |
[1] ,Hospital das Clinicas da Universidade Federal do Rio Grande do Sul Hematology Department Porto Alegre RS ,Brazil | |
关键词: myeloproliferative disorders; thrombocytosis; polycythemia vera; primary myelofibrosis; | |
DOI : 10.5581/1516-8484.20120034 | |
来源: SciELO | |
【 摘 要 】
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.
【 授权许可】
CC BY-NC-ND
All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License
【 预 览 】
Files | Size | Format | View |
---|---|---|---|
RO202005130164291ZK.pdf | 1630KB | download |