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 …

The myeloproliferative disorders

PJ Campbell, AR Green - New England Journal of Medicine, 2006 - Mass Medical Soc
The discovery of an identical mutation (V617F) of the JAK2 gene in patients with
polycythemia vera, essential thrombocythemia, and myelofibrosis—the principal …

Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms

P Lundberg, A Karow, R Nienhold… - Blood, The Journal …, 2014 - ashpublications.org
Myeloproliferative neoplasms (MPNs) are a group of clonal disorders characterized by
aberrant hematopoietic proliferation and an increased tendency toward leukemic …

Validation of ITD mutations in FLT3 as a therapeutic target in human acute myeloid leukaemia

CC Smith, Q Wang, CS Chin, S Salerno, LE Damon… - Nature, 2012 - nature.com
Effective targeted cancer therapeutic development depends upon distinguishing disease-
associated 'driver'mutations, which have causative roles in malignancy pathogenesis, from …

Inhibition of interleukin-1β reduces myelofibrosis and osteosclerosis in mice with JAK2-V617F driven myeloproliferative neoplasm

S Rai, E Grockowiak, N Hansen, D Luque Paz… - Nature …, 2022 - nature.com
Abstract Interleukin-1β (IL-1β) is a master regulator of inflammation. Increased activity of IL-
1β has been implicated in various pathological conditions including myeloproliferative …

[HTML][HTML] Mutation in TET2 in Myeloid Cancers

F Delhommeau, S Dupont, VD Valle… - … England Journal of …, 2009 - Mass Medical Soc
Background The myelodysplastic syndromes and myeloproliferative disorders are
associated with deregulated production of myeloid cells. The mechanisms underlying these …

JAK2 Exon 12 Mutations in Polycythemia Vera and Idiopathic Erythrocytosis

LM Scott, W Tong, RL Levine, MA Scott… - … England Journal of …, 2007 - Mass Medical Soc
Background The V617F mutation, which causes the substitution of phenylalanine for valine
at position 617 of the Janus kinase (JAK) 2 gene (JAK2), is often present in patients with …

MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients

AD Pardanani, RL Levine, T Lasho, Y Pikman… - Blood, 2006 - ashpublications.org
Recently, a gain-of-function MPL mutation, MPL W515L, was described in patients with
JAK2 V617F-negative myelofibrosis with myeloid metaplasia (MMM). To gain more …

Anagrelide compared with hydroxyurea in WHO-classified essential thrombocythemia: the ANAHYDRET Study, a randomized controlled trial

H Gisslinger, M Gotic, J Holowiecki… - Blood, The Journal …, 2013 - ashpublications.org
High platelet counts in essential thrombocythemia (ET) can be effectively lowered by
treatment with either anagrelide or hydroxyurea. In 259 previously untreated, high-risk …

Pegylated interferon-alfa-2a induces complete hematologic and molecular responses with low toxicity in polycythemia vera

JJ Kiladjian, B Cassinat, S Chevret… - Blood, The Journal …, 2008 - ashpublications.org
Abstract Interferon-α (IFN-α) is a nonleukemogenic treatment of polycythemia vera (PV) able
to induce cytogenetic remissions. Its use is limited by toxicity, leading to treatment …