Philadelphia-negative chronic myeloproliferative neoplasms

Revista Brasileira de Hematologia e Hemoterapia

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】

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