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Blood, 27 August 2009, Vol. 114, No. 9, pp. 1859-1863. Prepublished online as a Blood First Edition Paper on July 1, 2009; DOI 10.1182/blood-2009-01-198416. This Article Full Text (PDF) Supplemental Tables and Figure All Versions of this Article: blood-2009-01-198416v1 114/9/1859    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Google Scholar Articles by Loh, M. L. Articles by Niemeyer, C. M. PubMed PubMed Citation Articles by Loh, M. L. Articles by Niemeyer, C. M. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted January 8, 2009 Accepted June 14, 2009 Mutations in CBL occur frequently in juvenile myelomonocytic leukemia Mignon L. Loh*, Debbie S. Sakai, Christian Flotho, Michelle Kang, Manfred Fliegauf, Sophie Archambeault, Charles G. Mullighan, Leslie Chen, Eva Bergstraesser, Carlos E. Bueso-Ramos, Peter D. Emanuel, Henrik Hasle, Jean-Pierre Issa, Marry M. van den Heuvel-Eibrink, Franco Locatelli, Jan Stary, Monica Trebo, Marcin Wlodarski, Marco Zecca, Kevin M. Shannon, and Charlotte M. Niemeyer Department of Pediatrics and the Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA, United States Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany Department of Pathology, St Jude Children's Research Hospital, Memphis, TN, United States University Children's Hospital, Department of Hematology and Oncology, Zurich, Switzerland Department of Leukemia, MD Anderson Cancer Center, Houston, TX, United States Comprehensive Cancer Center, University of Arkansas, Little Rock, AR, United States Department of Pediatrics, Aarhus University Hospital, Skejby, Aarhus, Denmark Dutch Children's Oncology Group, Erasmus-MC Sophia Children's Hospital, Rotterdam, Netherlands Pediatric Hematology/Oncology, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy Department of Pediatric Hematology and Oncology, University Hospital Motol, Prague, Czech Republic St. Anna Kinderspital, Vienna, Austria * Corresponding author; email: lohm{at}peds.ucsf.edu. 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. CBL mutations are frequent in JMML. 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. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: M. R. McKeller, R. S. Robetorye, P. L. M. Dahia, and R. C. T. Aguiar Integrity of the CBL gene in mature B-cell malignancies Blood, November 5, 2009; 114(19): 4321 - 4322. [Full Text] [PDF]

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