[HTML][HTML] 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 …

Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignancies

C O'Keefe, MA McDevitt… - Blood, The Journal of …, 2010 - ashpublications.org
Single nucleotide polymorphism arrays (SNP-A) have recently been widely applied as a
powerful karyotyping tool in numerous translational cancer studies. SNP-A complements …

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

CM Niemeyer, MW Kang, DH Shin, I Furlan… - Nature …, 2010 - nature.com
CBL encodes a member of the Cbl family of proteins, which functions as an E3 ubiquitin
ligase. We describe a dominant developmental disorder resulting from germline missense …

[HTML][HTML] 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 …

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia

B Pérez, F Mechinaud, C Galambrun… - Journal of medical …, 2010 - jmg.bmj.com
Background CBL missense mutations have recently been associated with juvenile
myelomonocytic leukaemia (JMML), an aggressive myeloproliferative and myelodysplastic …

Cbl and human myeloid neoplasms: the Cbl oncogene comes of age

SC Kales, PE Ryan, MM Nau, S Lipkowitz - Cancer research, 2010 - AACR
Cbl was originally discovered in 1989 as the cellular homolog of the v-Cbl oncogene, the
transforming gene of the Cas NS-1 murine retrovirus that causes myeloid leukemia and …

Endogenous oncogenic Nras mutation promotes aberrant GM-CSF signaling in granulocytic/monocytic precursors in a murine model of chronic myelomonocytic …

J Wang, Y Liu, Z Li, J Du, MJ Ryu… - Blood, The Journal …, 2010 - ashpublications.org
Oncogenic NRAS mutations are frequently identified in myeloid diseases involving
monocyte lineage. However, its role in the genesis of these diseases remains elusive. We …

[HTML][HTML] Myeloid leukemia development in c-Cbl RING finger mutant mice is dependent on FLT3 signaling

C Rathinam, CBF Thien, RA Flavell, WY Langdon - Cancer cell, 2010 - cell.com
Although myeloid leukemias are primarily caused by leukemic stem cells, the molecular
basis of their transformation remains largely unknown. Here, by analyzing mice with a …

Drug resistance in mutant FLT3-positive AML

E Weisberg, M Sattler, A Ray, JD Griffin - Oncogene, 2010 - nature.com
Abstract Mutant Fms-Like Tyrosine kinase-3 (FLT3), which is expressed in the leukemic cells
of a subpopulation of acute myeloid leukemia (AML) patients, represents an attractive target …

Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia

H Muramatsu, H Makishima… - Blood, The Journal …, 2010 - ashpublications.org
Juvenile myelomonocytic leukemia (JMML) is a rare pediatric myeloid neoplasm
characterized by excessive proliferation of myelomonocytic cells. When we investigated the …