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The genomic landscape of juvenile myelomonocytic leukemia.
Stieglitz, Elliot; Taylor-Weiner, Amaro N; Chang, Tiffany Y; Gelston, Laura C; Wang, Yong-Dong; Mazor, Tali; Esquivel, Emilio; Yu, Ariel; Seepo, Sara; Olsen, Scott; Rosenberg, Mara; Archambeault, Sophie L; Abusin, Ghada; Beckman, Kyle; Brown, Patrick A; Briones, Michael; Carcamo, Benjamin; Cooper, Todd; Dahl, Gary V; Emanuel, Peter D; Fluchel, Mark N; Goyal, Rakesh K; Hayashi, Robert J; Hitzler, Johann; Hugge, Christopher; Liu, Y Lucy; Messinger, Yoav H; Mahoney, Donald H; Monteleone, Philip; Nemecek, Eneida R; Roehrs, Philip A; Schore, Reuven J; Stine, Kimo C; Takemoto, Clifford M; Toretsky, Jeffrey A; Costello, Joseph F; Olshen, Adam B; Stewart, Chip; Li, Yongjin; Ma, Jing; Gerbing, Robert B; Alonzo, Todd A; Getz, Gad; Gruber, Tanja; Golub, Todd; Stegmaier, Kimberly; Loh, Mignon L.
Afiliação
  • Stieglitz E; Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA.
  • Taylor-Weiner AN; Broad Institute of MIT and Harvard, Cambridge, MA.
  • Chang TY; Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA.
  • Gelston LC; Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA.
  • Wang YD; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN.
  • Mazor T; Department of Neurological Surgery, University of California, San Francisco, CA.
  • Esquivel E; Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA.
  • Yu A; Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA.
  • Seepo S; Broad Institute of MIT and Harvard, Cambridge, MA.
  • Olsen S; Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children's Research Hospital, Memphis, TN.
  • Rosenberg M; Broad Institute of MIT and Harvard, Cambridge, MA.
  • Archambeault SL; Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA.
  • Abusin G; Stead Family Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA.
  • Beckman K; Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA.
  • Brown PA; Department of Pediatrics, The Johns Hopkins Hospital, Baltimore, MA.
  • Briones M; Department of Pediatrics, Emory University School of Medicine, Aflac Cancer and Blood Disorder Center, Atlanta, GA.
  • Carcamo B; Department of Pediatrics, Texas Tech University, El Paso, TX.
  • Cooper T; Department of Pediatrics, Seattle Children's Hospital, Seattle, WA.
  • Dahl GV; Department of Pediatrics, Stanford School of Medicine, Stanford, CA.
  • Emanuel PD; Winthrop P. Rockefeller Cancer Institute, University of Arkansas for Medical Sciences, Little Rock, AR.
  • Fluchel MN; Department of Pediatric Hematology Oncology, University of Utah, Salt Lake City, UT.
  • Goyal RK; Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA.
  • Hayashi RJ; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.
  • Hitzler J; Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Hugge C; Pediatric Hematology Oncology, SSM Cardinal Glennon Children's Medical Center, Saint Louis, MO.
  • Liu YL; Winthrop P. Rockefeller Cancer Institute, University of Arkansas for Medical Sciences, Little Rock, AR.
  • Messinger YH; Division of Pediatric Hematology Oncology, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN.
  • Mahoney DH; Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX.
  • Monteleone P; Pediatric Hematology Oncology, Pediatric Specialists of Lehigh Valley Hospital, Bethlehem, PA.
  • Nemecek ER; Pediatric Bone Marrow Transplant Program, Oregon Health & Science University, Portland, OR.
  • Roehrs PA; Department of Pediatrics, University of North Carolina at Chapel Hill, NC.
  • Schore RJ; Division of Pediatric Oncology, Children's National Medical Center, Washington, DC.
  • Stine KC; Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR.
  • Takemoto CM; Department of Pediatrics, The Johns Hopkins Hospital, Baltimore, MA.
  • Toretsky JA; Department of Pediatrics, Georgetown University, Washington, DC.
  • Costello JF; Department of Oncology, Georgetown University, Washington, DC.
  • Olshen AB; Department of Neurological Surgery, University of California, San Francisco, CA.
  • Stewart C; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA.
  • Li Y; Department of Epidemiology and Biostatistics, University of California, San Francisco, CA.
  • Ma J; Broad Institute of MIT and Harvard, Cambridge, MA.
  • Gerbing RB; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN.
  • Alonzo TA; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN.
  • Getz G; Department of Statistics, Children's Oncology Group, Monrovia, CA.
  • Gruber T; Keck School of Medicine, University of Southern California, Los Angeles, CA.
  • Golub T; Broad Institute of MIT and Harvard, Cambridge, MA.
  • Stegmaier K; Harvard Medical School, Boston, MA.
  • Loh ML; Department of Pathology and Cancer Center, Massachusetts General Hospital, Boston, MA.
Nat Genet ; 47(11): 1326-1333, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26457647
ABSTRACT
Juvenile myelomonocytic leukemia (JMML) is a myeloproliferative neoplasm (MPN) of childhood with a poor prognosis. Mutations in NF1, NRAS, KRAS, PTPN11 or CBL occur in 85% of patients, yet there are currently no risk stratification algorithms capable of predicting which patients will be refractory to conventional treatment and could therefore be candidates for experimental therapies. In addition, few molecular pathways aside from the RAS-MAPK pathway have been identified that could serve as the basis for such novel therapeutic strategies. We therefore sought to genomically characterize serial samples from patients at diagnosis through relapse and transformation to acute myeloid leukemia to expand knowledge of the mutational spectrum in JMML. We identified recurrent mutations in genes involved in signal transduction, splicing, Polycomb repressive complex 2 (PRC2) and transcription. Notably, the number of somatic alterations present at diagnosis appears to be the major determinant of outcome.
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Transdução de Sinais / Predisposição Genética para Doença / Leucemia Mielomonocítica Juvenil / Estudo de Associação Genômica Ampla / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Canadá
Texto completo
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Transdução de Sinais / Predisposição Genética para Doença / Leucemia Mielomonocítica Juvenil / Estudo de Associação Genômica Ampla / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Canadá