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Cited by 395

The DOI matches its Crossref record; 188 of the 188 references it cites were found in a registry or an index.

New mutations and pathogenesis of myeloproliferative neoplasms

Vainchenker, William, Delhommeau, François, Constantinescu, Stefan N., Bernard, Olivier A.·2011·Blood

Abstract

Myeloproliferative neoplasms (MPNs) are clonal disorders characterized by excessive production of mature blood cells. In the majority of classic MPN—polycythemia vera, essential thrombocythemia, and primitive myelofibrosis—driver oncogenic mutations affecting Janus kinase 2 (JAK2) or MPL lead to constitutive activation of cytokine-regulated intracellular signaling pathways. LNK, c-CBL, or SOCSs (all negative regulators of signaling pathways), although infrequently targeted, may either drive the disease or synergize with JAK2 and MPL mutations. IZF1 deletions or TP53 mutations are mainly found at transformation phases and are present at greater frequency than in de novo acute myeloid leukemias. Loss-of-function mutations in 3 genes involved in epigenetic regulation, TET2, ASXL1, and EZH2, may be early events preceding JAK2V617F but may also occur late during disease progression. They are more frequently observed in PMF than PV and ET and are also present in other types of malignant myeloid diseases. A likely hypothesis is that they facilitate clonal selection, allowing the dominance of the JAK2V617F subclone during the chronic phase and, together with cooperating mutations, promote blast crisis. Their precise roles in hematopoiesis and in the pathogenesis of MPN, as well as their prognostic impact and potential as a therapeutic target, are currently under investigation.

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Metadata

Authors
Vainchenker, W., Delhommeau, F., Constantinescu, S. N., & Bernard, O. A.
Venue
Blood
Published
2011-08-18
Volume
118
Issue
7
Pages
1723-1735
ISSN
  • 0006-4971 (ISSN-L)
  • 1528-0020
OpenAlex
W2057129764
Cited by
395
References
188
FWCI
25.27
Type
journal article
Language
en
Open access
closed

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CoChat. (2026). Citation check: New mutations and pathogenesis of myeloproliferative neoplasms. https://app.cochat.ai/papers/10.1182/blood-2011-02-292102
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Vainchenker, W., Delhommeau, F., Constantinescu, S. N., & Bernard, O. A. (2011). New mutations and pathogenesis of myeloproliferative neoplasms. Blood. https://doi.org/10.1182/blood-2011-02-292102

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