Revista Brasileira de Hematologia e Hemoterapia | |
Molecular biology of Philadelphia-negative myeloproliferative neoplasms | |
Paulo Vidal Campregher1  Fábio Pires De Souza Santos1  Guilherme Fleury Perini1  Nelson Hamerschlak1  | |
[1] ,Hospital Israelita Albert Einstein Hematology Department São Paulo SP ,Brazil | |
关键词: polycythemia vera; primary myelofibrosis; thrombocythemia; essential; leukemia; myeloid; acute; myeloproliferative disorders; janus kinase 2; | |
DOI : 10.5581/1516-8484.20120035 | |
来源: SciELO | |
【 摘 要 】
Myeloproliferative neoplasms are clonal diseases of hematopoietic stem cells characterized by myeloid hyperplasia and increased risk of developing acute myeloid leukemia. Myeloproliferative neoplasms are caused, as any other malignancy, by genetic defects that culminate in the neoplastic phenotype. In the past six years, since the identification of JAK2V617F, we have experienced a substantial increase in our knowledge about the genetic mechanisms involved in the genesis of myeloproliferative neoplasms. Mutations described in several genes have revealed a considerable degree of molecular homogeneity between different subtypes of myeloproliferative neoplasms. At the same time, the molecular differences between each subtype have become clearer. While mutations in several genes, such as JAK2, myeloproliferative leukemia (MPL) and LNK have been validated in functional assays or animal models as causative mutations, the roles of other recurring mutations in the development of disease, such as TET2 and ASXL1 remain to be elucidated. In this review we will examine the most prevalent recurring gene mutations found in myeloproliferative neoplasms and their molecular consequences.
【 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
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