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 …

[HTML][HTML] Somatic mutations of calreticulin in myeloproliferative neoplasms

T Klampfl, H Gisslinger, AS Harutyunyan… - … England Journal of …, 2013 - Mass Medical Soc
Background Approximately 50 to 60% of patients with essential thrombocythemia or primary
myelofibrosis carry a mutation in the Janus kinase 2 gene (JAK2), and an additional 5 to …

Clinical and biological implications of driver mutations in myelodysplastic syndromes

E Papaemmanuil, M Gerstung… - Blood, The Journal …, 2013 - ashpublications.org
Myelodysplastic syndromes (MDS) are a heterogeneous group of chronic hematological
malignancies characterized by dysplasia, ineffective hematopoiesis and a variable risk of …

Mutations and prognosis in primary myelofibrosis

AM Vannucchi, TL Lasho, P Guglielmelli, F Biamonte… - Leukemia, 2013 - nature.com
Patient outcome in primary myelofibrosis (PMF) is significantly influenced by karyotype. We
studied 879 PMF patients to determine the individual and combinatorial prognostic …

[HTML][HTML] Clinical effect of point mutations in myelodysplastic syndromes

R Bejar, K Stevenson, O Abdel-Wahab… - … England Journal of …, 2011 - Mass Medical Soc
Background Myelodysplastic syndromes are clinically heterogeneous disorders
characterized by clonal hematopoiesis, impaired differentiation, peripheral-blood …

[HTML][HTML] Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts

E Papaemmanuil, M Cazzola… - … England Journal of …, 2011 - Mass Medical Soc
Background Myelodysplastic syndromes are a diverse and common group of chronic
hematologic cancers. The identification of new genetic lesions could facilitate new …

Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders

T Ernst, AJ Chase, J Score, CE Hidalgo-Curtis… - Nature …, 2010 - nature.com
Abnormalities of chromosome 7q are common in myeloid malignancies, but no specific
target genes have yet been identified. Here, we describe the finding of homozygous EZH2 …

Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms

JD Milosevic Feenstra, H Nivarthi… - Blood, The Journal …, 2016 - ashpublications.org
Essential thrombocythemia (ET) and primary myelofibrosis (PMF) are chronic diseases
characterized by clonal hematopoiesis and hyperproliferation of terminally differentiated …

Mutant calreticulin requires both its mutant C-terminus and the thrombopoietin receptor for oncogenic transformation

S Elf, NS Abdelfattah, E Chen, J Perales-Patón… - Cancer discovery, 2016 - AACR
Somatic mutations in calreticulin (CALR) are present in approximately 40% of patients with
myeloproliferative neoplasms (MPN), but the mechanism by which mutant CALR is …