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 …

Genetic and epigenetic complexity in myeloproliferative neoplasms

NCP Cross - Hematology 2010, the American Society of …, 2011 - ashpublications.org
The past 7 years have witnessed remarkable progress in our understanding of the genetics
of BCR-ABL–negative myeloproliferative neoplasms (MPNs) and has revealed layers of …

Complement activation in antiphospholipid syndrome and its inhibition to prevent rethrombosis after arterial surgery

PL Meroni, P Macor, P Durigutto… - Blood, The Journal …, 2016 - ashpublications.org
Deep vein thrombosis accompanied by pulmonary embolism and thrombotic occlusion of
the cerebral and coronary arteries are common and severe complications of …

CALR exon 9 mutations are somatically acquired events in familial cases of essential thrombocythemia or primary myelofibrosis

E Rumi, AS Harutyunyan, D Pietra… - Blood, The Journal …, 2014 - ashpublications.org
Somatic mutations in the calreticulin (CALR) gene were recently discovered in patients with
sporadic essential thrombocythemia (ET) and primary myelofibrosis (PMF) lacking JAK2 and …

Genetic and epigenetic alterations of myeloproliferative disorders

JD Milosevic, R Kralovics - International journal of hematology, 2013 - Springer
The classical BCR–ABL negative myeloproliferative neoplasms (MPN) polycythemia vera,
essential thrombocythemia, and primary myelofibrosis are clonal hematopoietic disorders …

JAK2 Variant Signaling: Genetic, Hematologic and Immune Implication in Chronic Myeloproliferative Neoplasms

DG Torres, J Paes, AG da Costa, A Malheiro, GV Silva… - Biomolecules, 2022 - mdpi.com
The JAK2 V617F variant constitutes a genetic alteration of higher frequency in BCR/ABL1
negative chronic myeloproliferative neoplasms, which is caused by a substitution of a G˃ T …

[HTML][HTML] Spliceosome mutations exhibit specific associations with epigenetic modifiers and proto-oncogenes mutated in myelodysplastic syndrome

SA Mian, AE Smith, AG Kulasekararaj, A Kizilors… - …, 2013 - ncbi.nlm.nih.gov
The recent identification of acquired mutations in key components of the spliceosome
machinery strongly implicates abnormalities of mRNA splicing in the pathogenesis of …

The role of JAK2 inhibitors in MPNs 7 years after approval

F Passamonti, M Maffioli - Blood, The Journal of the American …, 2018 - ashpublications.org
Myeloproliferative neoplasms (MPNs) include essential thrombocythemia, polycythemia
vera (PV), and primary myelofibrosis (MF). Phenotype-driver mutations of JAK2, CALR, and …

Germline RBBP6 mutations in familial myeloproliferative neoplasms

AS Harutyunyan, R Giambruno… - Blood, The Journal …, 2016 - ashpublications.org
The retrospective nature of our study, as well as the relatively small number ofFLT3-ITD 1
AML patients included in the analysis, is the most serious limitation of the obtained data. Our …

Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms

J Pegliasco, P Hirsch, C Marzac, F Isnard, JC Meniane… - Leukemia, 2022 - nature.com
The germline predisposition associated with the autosomal dominant inheritance of the
14q32 duplication implicating ATG2B/GSKIP genes is characterized by a wide clinical …