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Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders
Interestingly, the mutations identified resulted in premature chain termination or direct abrogation of histone methyltransferase activity, suggesting that EZH2 acts as a tumor suppressor for myeloid malignancies.
Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders.
It is concluded that V617F is widespread in MPDs and detection of this acquired mutation is likely to have a major impact on the way patients with MPD are diagnosed, as well as serving as an obvious target for signal transduction therapy.
JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms
It is reported here that JAK2V617F-associated disease is strongly associated with a specific constitutional Jak2 haplotype, designated 46/1, in all three disease entities compared to healthy controls and provides a model whereby a constitutional genetic factor is associated with an increased risk of acquiring a specific somatic mutation.
Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms.
It is concluded that acquired, transforming CBL mutations are a novel and widespread pathogenetic abnormality in morphologically related, clinically aggressive MPNs.
EZH2 mutational status predicts poor survival in myelofibrosis.
EZH2 mutations are independently associated with shorter survival in patients with PMF and in multivariate analysis, survival of PMF patients was predicted by IPSS high-risk category, a < 25% JAK2V617F allele burden, and EZh2 mutation status.
Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms.
It is shown that PRC2 function may be compromised in myeloid disorders by mutation of distinct genes, as well as associated factors such as JARID2 and EED.
Clonal diversity in the myeloproliferative neoplasms: independent origins of genetically distinct clones
Clonal diversity was demonstrated in a subset of patients with early stage haematopoietic malignancy and it was shown, for the first time, that such clones may arise independently.
JAK2-V617F mutation in a patient with Philadelphia-chromosome-positive chronic myeloid leukaemia.
Inherited predisposition to myeloproliferative neoplasms
This review considers what is currently known about the role that inherited factors play in the development and biology of both sporadic and familial forms of MPN and whether whole exome or genome sequencing should provide novel insights into these elusive disorders.