Myeloproliferative neoplasms: Current molecular biology and genetics

Saeidi, Kolsoum

doi:10.1016/j.critrevonc.2015.11.004

Cited by 44 publications

(26 citation statements)

References 218 publications

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“…29–31 These lesions involve ten-eleven-ten (TET)2 , additional sex combs like ( ASXL)1 , enhancer of zeste homolog ( EZH)2 , isocitrate dehydrogenase 1 and 2 ( IDH1/2 ), DNA methyltransferase ( DNMT)3A , SH2B adaptor protein ( SH2B)3 , Casitas B-cell lymphoma ( CBL ), Ikaros family zinc-finger protein ( IKZF)1 , high-mobility group AT-hook ( HMGA)2 , TP53 and NRAS / KRAS (reviewed elsewhere 32 ). These mutations often accumulate in the same patient and can affect prognosis.…”

Section: Molecular Features Of Etmentioning

confidence: 99%

Assessing the thrombotic risk of patients with essential thrombocythemia in the genomic era

2017

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The molecular characterization of myeloproliferative neoplasms, including essential thrombocythemia (ET), has enabled deeper understanding of their pathogenesis. A driver lesion, namely, Janus kinase (JAK)2V617F, calreticulin (CALR) or myeloproliferative leukemia (MPL) gene mutation can be identified in the vast majority of patients. Each of these mutations is associated with distinct clinical features and may modulate the patients’ clinical course, risk of complications, including vascular events, and survival. JAK2V617F appears to be a risk-modifying mutation and has been shown to increase the likelihood of thrombotic events in patients with ET across studies. As such, it has been included in prognostic models and its presence may influence treatment decisions. The association of CALR and MPL mutations with the incidence of vascular events has been less clear. Even more limited information is available on the contribution of additional non-driver lesions to the thrombotic risk. In this review we discuss the available evidence on the role of recurrent mutations in the risk of thrombotic complications in patients with ET and how these mutations weigh into modern prognostic scores.

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Section: Molecular Features Of Etmentioning

confidence: 99%

Assessing the thrombotic risk of patients with essential thrombocythemia in the genomic era

2017

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“…This mutation is located in exon 14 and affects the pseudokinase domain, resulting in the constitutive activation of kinase function. 1 Other mutations have been found in this domain in PV, such as p.C616Y, p.C618R and p.D620E, or the somatic deletion of five amino acids (ΔIREED) that defines a distinct acute lymphoblastic leukemia (ALL) subgroup associated with trisomy 21. A region linking SH2 and JH2 domains (exon 12, residues 537 to 543) can be also mutated in some PV patients.…”

mentioning

confidence: 99%

p.Y317H is a new JAK2 gain-of-function mutation affecting the FERM domain in a myelofibrosis patient with CALR mutation

Eder-Azanza¹,

Hurtado²,

Navarro‐Herrera³

et al. 2017

Haematologica

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“…MDS itself can arise as an adverse effect of radiation and chemotherapy. MPNs is a group of diseases characterized by the overproduction of one or more blood cell types in the bone marrow and circulating blood (Saeidi 2016). MPN can also further evolve into AML.…”

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confidence: 99%

Epigenetics of hematopoiesis and hematological malignancies

Hu¹,

Shilatifard

2016

Genes Dev.

127

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Hematological malignancies comprise a diverse set of lymphoid and myeloid neoplasms in which normal hematopoiesis has gone awry and together account for ∼10% of all new cancer cases diagnosed in the United States in 2016. Recent intensive genomic sequencing of hematopoietic malignancies has identified recurrent mutations in genes that encode regulators of chromatin structure and function, highlighting the central role that aberrant epigenetic regulation plays in the pathogenesis of these neoplasms. Deciphering the molecular mechanisms for how alterations in epigenetic modifiers, specifically histone and DNA methylases and demethylases, drive hematopoietic cancer could provide new avenues for developing novel targeted epigenetic therapies for treating hematological malignancies. Just as past studies of blood cancers led to pioneering discoveries relevant to other cancers, determining the contribution of epigenetic modifiers in hematologic cancers could also have a broader impact on our understanding of the pathogenesis of solid tumors in which these factors are mutated.

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Myeloproliferative neoplasms: Current molecular biology and genetics

Cited by 44 publications

References 218 publications

Assessing the thrombotic risk of patients with essential thrombocythemia in the genomic era

Assessing the thrombotic risk of patients with essential thrombocythemia in the genomic era

p.Y317H is a new JAK2 gain-of-function mutation affecting the FERM domain in a myelofibrosis patient with CALR mutation

Epigenetics of hematopoiesis and hematological malignancies

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