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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-31032

Loh, M L; Sakai, D S; Flotho, C; Kang, M; Fliegauf, M; Archambeault, S; Mullighan, C G; Chen, L; Bergstraesser, E; Bueso-Ramos, C E; Emanuel, P D; Hasle, H; Issa, J P; van den Heuvel-Eibrink, M M; Locatelli, F; Stary, J; Trebo, M; Wlodarski, M; Zecca, M; Shannon, K M; Niemeyer, C M (2009). Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. Blood, 114(9):1859-1863.

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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.


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Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Deposited On:17 Feb 2010 13:33
Last Modified:05 Apr 2016 13:56
Publisher:American Society of Hematology
Additional Information:This research was originally published in Blood. Copyright by the American Society of Hematology
Publisher DOI:10.1182/blood-2009-01-198416
PubMed ID:19571318

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