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 …

A systematic review and meta-analysis of the prevalence of thrombosis and bleeding at diagnosis of Philadelphia-negative myeloproliferative neoplasms

T Rungjirajittranon, W Owattanapanich, P Ungprasert… - BMC cancer, 2019 - Springer
Abstract Background Philadelphia (Ph) chromosome-negative myeloproliferative neoplasms
(MPNs) are a heterogeneous group of hematopoietic stem cell clonal diseases. Most …

Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia

G Rotunno, C Mannarelli, P Guglielmelli… - Blood, The Journal …, 2014 - ashpublications.org
Mutations in the calreticulin (CALR) gene were recently discovered in patients with essential
thrombocythemia (ET) lacking the JAK2 V617F and MPL W515 mutations, but no information …

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 …

MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort

PA Beer, PJ Campbell, LM Scott… - Blood, The Journal …, 2008 - ashpublications.org
Activating mutations of MPL exon 10 have been described in a minority of patients with
idiopathic myelofibrosis (IMF) or essential thrombocythemia (ET), but their prevalence and …

Blast transformation and fibrotic progression in polycythemia vera and essential thrombocythemia: a literature review of incidence and risk factors

S Cerquozzi, A Tefferi - Blood cancer journal, 2015 - nature.com
Polycythemia vera (PV) and essential thrombocythemia (ET) constitute two of the three BCR-
ABL1-negative myeloproliferative neoplasms and are characterized by relatively long …

Prospective identification of high-risk polycythemia vera patients based on JAK2V617F allele burden

AM Vannucchi, E Antonioli, P Guglielmelli, G Longo… - Leukemia, 2007 - nature.com
The aim of this study was to determine whether the burden of JAK2 V617F allele correlated
with major clinical outcomes in patients with polycythemia vera (PV). To this end, we …

[PDF][PDF] Guideline for investigation and management of adults and children presenting with a thrombocytosis.

CN Harrison, D Bareford, N Butt… - British journal of …, 2010 - thebloodproject.com
1Guy's and St Thomas' NHS Foundation Trust, London, 2Russells Hall Hospital, Dudley,
West Midlands, 3Arrowe Park Hospital Arrowe Park Road Upton Wirral, 4Wellcome Trust …

Janus kinase inhibitors for the treatment of myeloproliferative neoplasias and beyond

A Quintás-Cardama, H Kantarjian, J Cortes… - Nature reviews Drug …, 2011 - nature.com
Recent advances in our understanding of the pathogenesis of the Philadelphia chromosome-
negative myeloproliferative neoplasms, polycythaemia vera, essential thrombocythaemia …

Ratio of mutant JAK2-V617F to wild-type Jak2 determines the MPD phenotypes in transgenic mice

R Tiedt, H Hao-Shen, MA Sobas… - Blood, The Journal …, 2008 - ashpublications.org
An acquired somatic mutation in the JAK2 gene (JAK2-V617F) is present in the majority of
patients with myeloproliferative disorders (MPDs). Several phenotypic manifestations …