Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.

Authors: Loh, ML  Sakai, DS  Flotho, C  Kang, M  Fliegauf, M  Archambeault, S  Mullighan, CG  Chen, L  Bergstraesser, E  Bueso-Ramos, CE  Emanuel, PD  Hasle, H  Issa, JP  Van den Heuvel-Eibrink, MM  Locatelli, F  Stary, J  Trebo, M  Wlodarski, M  Zecca, M  Shannon, KM  Niemeyer, CM 
Citation: Loh ML, etal., Blood. 2009 Aug 27;114(9):1859-63. doi: 10.1182/blood-2009-01-198416. Epub 2009 Jul 1.
Pubmed: (View Article at PubMed) PMID:19571318
DOI: Full-text: DOI:10.1182/blood-2009-01-198416

Juvenile myelomonocytic leukemia is an aggressive myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Seventy-five percent of patients harbor mutations in the NF1, NRAS, KRAS, or PTPN11 genes, which encode components of Ras signaling networks. Using single nucleotide polymorphism arrays, we identified a region of 11q isodisomy that contains the CBL gene in several JMML samples, and subsequently identified CBL mutations in 27 of 159 JMML samples. Thirteen of these mutations alter codon Y371. In this report, we also demonstrate that CBL and RAS/PTPN11 mutations were mutually exclusive in these patients. Moreover, the exclusivity of CBL mutations with respect to other Ras pathway-associated mutations indicates that CBL may have a role in deregulating this key pathway in JMML.


Disease Annotations
Objects Annotated

Additional Information

CRRD Object Information
CRRD ID: 11038806
Created: 2016-02-26
Species: All species
Last Modified: 2016-02-26
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.