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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 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 Citation Map 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. Related Collections Myeloid Neoplasia Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  MYELOID NEOPLASIA Brief Report Mutations in CBL occur frequently in juvenile myelomonocytic leukemia Mignon L. Loh1, Debbie S. Sakai1, Christian Flotho2, Michelle Kang1, Manfred Fliegauf2, Sophie Archambeault1, Charles G. Mullighan3, Leslie Chen1, Eva Bergstraesser4, Carlos E. Bueso-Ramos5, Peter D. Emanuel6, Henrik Hasle7, Jean-Pierre Issa4, Marry M. van den Heuvel-Eibrink8, Franco Locatelli9, Jan Star10, Monica Trebo11, Marcin Wlodarski2, Marco Zecca9, Kevin M. Shannon1, and Charlotte M. Niemeyer2 1 Department of Pediatrics and the Comprehensive Cancer Center, University of California, San Francisco; 2 Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany; 3 Department of Pathology, St Jude Children's Research Hospital, Memphis, TN; 4 Department of Hematology and Oncology, University Children's Hospital, Zürich, Switzerland; 5 Department of Leukemia, M. D. Anderson Cancer Center, Houston, TX; 6 Comprehensive Cancer Center, University of Arkansas, Little Rock; 7 Department of Pediatrics, Aarhus University Hospital, Skejby, Denmark; 8 Dutch Children's Oncology Group, Erasmus-MC Sophia Children's Hospital, Rotterdam, The Netherlands; 9 Pediatric Hematology/Oncology, University of Pavia, Fondazione Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy; 10 Department of Pediatric Hematology and Oncology, University Hospital Motol, Prague, Czech Republic; and 11 St Anna Kinderspital, Vienna, Austria 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. 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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