Genomic landscape of megakaryopoiesis and platelet function defects

E Bianchi, R Norfo, V Pennucci, R Zini… - Blood, The Journal of …, 2016 - ashpublications.org
Megakaryopoiesis is a complex, stepwise process that takes place largely in the bone
marrow. At the apex of the hierarchy, hematopoietic stem cells undergo a number of lineage …

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 …

Myeloproliferative neoplasms: Current molecular biology and genetics

K Saeidi - Critical reviews in oncology/hematology, 2016 - Elsevier
Myeloproliferative neoplasms (MPNs) are clonal disorders characterized by increased
production of mature blood cells. Philadelphia chromosome-negative MPNs (Ph-MPNs) …

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 …

Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms

DA Hinds, KE Barnholt, RA Mesa… - Blood, The Journal …, 2016 - ashpublications.org
We conducted a genome-wide association study (GWAS) to identify novel predisposition
alleles associated with Philadelphia chromosome-negative myeloproliferative neoplasms …

Loss of Ezh2 synergizes with JAK2-V617F in initiating myeloproliferative neoplasms and promoting myelofibrosis

T Shimizu, L Kubovcakova, R Nienhold… - Journal of Experimental …, 2016 - rupress.org
Myeloproliferative neoplasm (MPN) patients frequently show co-occurrence of JAK2-V617F
and mutations in epigenetic regulator genes, including EZH2. In this study, we show that …

Application of an NGS‐based 28‐gene panel in myeloproliferative neoplasms reveals distinct mutation patterns in essential thrombocythaemia, primary myelofibrosis …

S Delic, D Rose, W Kern, N Nadarajah… - British journal of …, 2016 - Wiley Online Library
Molecular routine diagnostics for BCR‐ABL 1‐negative myeloproliferative neoplasms (MPN)
currently focusses on mutations in JAK 2, CALR and MPL. In recent years, recurrent …

Whole‐exome sequencing reveals the spectrum of gene mutations and the clonal evolution patterns in paediatric acute myeloid leukaemia

N Shiba, K Yoshida, Y Shiraishi… - British journal of …, 2016 - Wiley Online Library
Acute myeloid leukaemia (AML) is a molecularly and clinically heterogeneous disease.
Targeted sequencing efforts have identified several mutations with diagnostic and …

Oncogenic activation of MPL/thrombopoietin receptor by 17 mutations at W515: implications for myeloproliferative neoplasms

JP Defour, I Chachoua, C Pecquet, SN Constantinescu - Leukemia, 2016 - nature.com
MPNs lacking those specific driver mutations are commonly called 'triple negatives', which
amount to 15% of ET and PMF and appear to share with phenotypic drivers the ability to …

Myeloproliferative neoplasms, version 2.2017, NCCN clinical practice guidelines in oncology

R Mesa, C Jamieson, R Bhatia, MW Deininger… - Journal of the National …, 2016 - jnccn.org
Myelofibrosis (MF), polycythemia vera (PV), and essential thrombocythemia (ET) are a group
of heterogeneous disorders of the hematopoietic system collectively known as Philadelphia …