Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms

W Vainchenker, R Kralovics - … Journal of the American Society of …, 2017 - ashpublications.org
The genetic landscape of classical myeloproliferative neoplasm (MPN) is in large part
elucidated. The MPN-restricted driver mutations, including those in JAK2, calreticulin …

JAK/STAT signaling in hematological malignancies

W Vainchenker, SN Constantinescu - Oncogene, 2013 - nature.com
The Janus kinase (JAK)/signal transducer and activator of transcription (STAT) pathway is
central to signaling by cytokine receptors, a superfamily of more than 30 transmembrane …

Integrated genomic analysis illustrates the central role of JAK-STAT pathway activation in myeloproliferative neoplasm pathogenesis

R Rampal, F Al-Shahrour… - Blood, The Journal …, 2014 - ashpublications.org
Genomic studies have identified somatic alterations in the majority of myeloproliferative
neoplasms (MPN) patients, including JAK2 mutations in the majority of MPN patients and …

Calreticulin mutants in mice induce an MPL-dependent thrombocytosis with frequent progression to myelofibrosis

C Marty, C Pecquet, H Nivarthi… - Blood, The Journal …, 2016 - ashpublications.org
Frameshift mutations in the calreticulin (CALR) gene are seen in about 30% of essential
thrombocythemia and myelofibrosis patients. To address the contribution of the CALR …

Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1

A Tefferi - Leukemia, 2010 - nature.com
Myeloproliferative neoplasms (MPNs) originate from genetically transformed hematopoietic
stem cells that retain the capacity for multilineage differentiation and effective myelopoiesis …

New mutations and pathogenesis of myeloproliferative neoplasms

W Vainchenker, F Delhommeau… - Blood, The Journal …, 2011 - ashpublications.org
Myeloproliferative neoplasms (MPNs) are clonal disorders characterized by excessive
production of mature blood cells. In the majority of classic MPN—polycythemia vera …

A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation …

F Passamonti, E Rumi, D Pietra, C Elena, E Boveri… - Leukemia, 2010 - nature.com
We studied the relationship between JAK2 (V617F) mutant allele burden and clinical
phenotype, disease progression and survival in patients with polycythemia vera (PV). The …

JAK2V617F-Mediated Clonal Hematopoiesis Accelerates Pathological Remodeling in Murine Heart Failure

S Sano, Y Wang, Y Yura, M Sano, K Oshima… - Basic to Translational …, 2019 - jacc.org
Janus kinase 2 (valine to phenylalanine at residue 617)(JAK2 V617F) mutations lead to
myeloproliferative neoplasms associated with elevated myeloid, erythroid, and …

Molecular pathways: Jak/STAT pathway: mutations, inhibitors, and resistance

A Quintás-Cardama, S Verstovsek - Clinical cancer research, 2013 - AACR
Aberrant activation of the JAK/STAT pathway has been reported in a variety of disease
states, including inflammatory conditions, hematologic malignancies, and solid tumors. For …

Physiological Jak2V617F expression causes a lethal myeloproliferative neoplasm with differential effects on hematopoietic stem and progenitor cells

A Mullally, SW Lane, B Ball, C Megerdichian, R Okabe… - Cancer cell, 2010 - cell.com
We report a Jak2V617F knockin mouse myeloproliferative neoplasm (MPN) model
resembling human polycythemia vera (PV). The MPN is serially transplantable and we …