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 …

FMS-like tyrosine kinase 3/FLT3: from basic science to clinical implications

JU Kazi, L Rönnstrand - Physiological reviews, 2019 - journals.physiology.org
FMS-like tyrosine kinase 3 (FLT3) is a receptor tyrosine kinase that is expressed almost
exclusively in the hematopoietic compartment. Its ligand, FLT3 ligand (FL), induces …

RINGs of good and evil: RING finger ubiquitin ligases at the crossroads of tumour suppression and oncogenesis

S Lipkowitz, AM Weissman - Nature Reviews Cancer, 2011 - nature.com
The ubiquitin-proteasome system has numerous crucial roles in physiology and
pathophysiology. Fundamental to the specificity of this system are ubiquitin-protein ligases …

SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML)

M Meggendorfer, A Roller, T Haferlach… - Blood, The Journal …, 2012 - ashpublications.org
We analyzed the mutational hotspot region of SRSF2 (Pro95) in 275 cases with chronic
myelomonocytic leukemia (CMML). In addition, ASXL1, CBL, EZH2, JAK2 V617F, KRAS …

Unraveling the molecular pathophysiology of myelodysplastic syndromes

R Bejar, R Levine, BL Ebert - Journal of clinical oncology, 2011 - ascopubs.org
Somatically acquired genetic abnormalities lead to the salient features that define
myelodysplastic syndromes (MDS): clonal hematopoiesis, aberrant differentiation …

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype

S Martinelli, A De Luca, E Stellacci, C Rossi… - The American Journal of …, 2010 - cell.com
RAS signaling plays a key role in controlling appropriate cell responses to extracellular
stimuli and participates in early and late developmental processes. Although enhanced flow …

Current findings for recurring mutations in acute myeloid leukemia

S Takahashi - Journal of hematology & oncology, 2011 - Springer
The development of acute myeloid leukemia (AML) is a multistep process that requires at
least two genetic abnormalities for the development of the disease. The identification of …

Spliceosome mutations involving SRSF2, SF3B1, and U2AF35 in chronic myelomonocytic leukemia: Prevalence, clinical correlates, and prognostic relevance

MM Patnaik, TL Lasho, CM Finke… - American journal of …, 2013 - Wiley Online Library
SRSF2, SF3B1, and U2AF35 (U2AF1) are the three most frequent genes involved with
spliceosome mutations in myeloid malignancies. SF3B1 mutations are most frequent …

CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia

H Makishima, AM Jankowska… - Blood, The Journal …, 2011 - ashpublications.org
Progression of chronic myelogenous leukemia (CML) to accelerated (AP) and blast phase
(BP) is because of secondary molecular events, as well as additional cytogenetic …

The importance of relative mutant level for evaluating impact on outcome of KIT, FLT3 and CBL mutations in core-binding factor acute myeloid leukemia

C Allen, RK Hills, K Lamb, C Evans, S Tinsley, R Sellar… - Leukemia, 2013 - nature.com
Several different mutations collaborate with the fusion proteins in core-binding factor acute
myeloid leukemia (CBF-AML) to induce leukemogenesis, but their prognostic significance …