Philadelphia-negative chronic myeloproliferative neoplasms
Rev. bras. hematol. hemoter
; 34(2): 140-149, 2012. ilus, tab
Article
en En
| LILACS
| ID: lil-624770
Biblioteca responsable:
BR408.1
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
LILACS
Contexto en salud:
2_ODS3
Problema de salud:
2_cobertura_universal
Asunto principal:
Policitemia Vera
/
Mielofibrosis Primaria
/
Trombocitemia Esencial
/
Trastornos Mieloproliferativos
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Rev. bras. hematol. hemoter
Asunto de la revista:
HEMATOLOGIA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Brasil