Molecular determinants of pathogenesis and clinical phenotype in myeloproliferative neoplasms
| Title: | Molecular determinants of pathogenesis and clinical phenotype in myeloproliferative neoplasms |
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| Authors: | Jacob Grinfeld, Jyoti Nangalia, Anthony R. Green |
| Source: | Haematologica, Vol 102, Iss 1 (2017) |
| Publisher Information: | Ferrata Storti Foundation, 2017. |
| Publication Year: | 2017 |
| Collection: | LCC:Diseases of the blood and blood-forming organs |
| Subject Terms: | Diseases of the blood and blood-forming organs, RC633-647.5 |
| More Details: | The myeloproliferative neoplasms are a heterogeneous group of clonal disorders characterized by the overproduction of mature cells in the peripheral blood, together with an increased risk of thrombosis and progression to acute myeloid leukemia. The majority of patients with Philadelphia-chromosome negative myeloproliferative neoplasms harbor somatic mutations in Janus kinase 2, leading to constitutive activation. Acquired mutations in calreticulin or myeloproliferative leukemia virus oncogene are found in a significant number of patients with essential thrombocythemia or myelofibrosis, and mutations in numerous epigenetic regulators and spliceosome components are also seen. Although the cellular and molecular consequences of many of these mutations remain unclear, it seems likely that they interact with germline and microenvironmental factors to influence disease pathogenesis. This review will focus on the determinants of specific myeloproliferative neoplasm phenotypes as well as on how an improved understanding of molecular mechanisms can inform our understanding of the disease entities themselves. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 0390-6078 1592-8721 |
| Relation: | https://haematologica.org/article/view/7947; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721 |
| DOI: | 10.3324/haematol.2014.113845 |
| Access URL: | https://doaj.org/article/d353112843cc409fb94d779ba0f7c04e |
| Accession Number: | edsdoj.353112843cc409fb94d779ba0f7c04e |
| Database: | Directory of Open Access Journals |
| ISSN: | 03906078 15928721 |
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| DOI: | 10.3324/haematol.2014.113845 |
| Published in: | Haematologica |
| Language: | English |