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Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.
Topka, Sabine; Vijai, Joseph; Walsh, Michael F; Jacobs, Lauren; Maria, Ann; Villano, Danylo; Gaddam, Pragna; Wu, Gang; McGee, Rose B; Quinn, Emily; Inaba, Hiroto; Hartford, Christine; Pui, Ching-Hon; Pappo, Alberto; Edmonson, Michael; Zhang, Michael Y; Stepensky, Polina; Steinherz, Peter; Schrader, Kasmintan; Lincoln, Anne; Bussel, James; Lipkin, Steve M; Goldgur, Yehuda; Harit, Mira; Stadler, Zsofia K; Mullighan, Charles; Weintraub, Michael; Shimamura, Akiko; Zhang, Jinghui; Downing, James R; Nichols, Kim E; Offit, Kenneth.
Afiliación
  • Topka S; Department of Medicine, Memorial Sloan Kettering Cancer Center (MSKCC), New York, New York, United States of America; Cancer Biology and Genetics Program, Sloan Kettering Institute, New York, New York, United States of America.
  • Vijai J; Department of Medicine, Memorial Sloan Kettering Cancer Center (MSKCC), New York, New York, United States of America; Cancer Biology and Genetics Program, Sloan Kettering Institute, New York, New York, United States of America.
  • Walsh MF; St Jude Children's Research Hospital (SJCRH), Memphis, Tennessee, United States of America.
  • Jacobs L; Department of Medicine, Memorial Sloan Kettering Cancer Center (MSKCC), New York, New York, United States of America.
  • Maria A; Department of Medicine, Memorial Sloan Kettering Cancer Center (MSKCC), New York, New York, United States of America.
  • Villano D; Department of Medicine, Memorial Sloan Kettering Cancer Center (MSKCC), New York, New York, United States of America.
  • Gaddam P; Department of Medicine, Memorial Sloan Kettering Cancer Center (MSKCC), New York, New York, United States of America.
  • Wu G; St Jude Children's Research Hospital (SJCRH), Memphis, Tennessee, United States of America.
  • McGee RB; St Jude Children's Research Hospital (SJCRH), Memphis, Tennessee, United States of America.
  • Quinn E; St Jude Children's Research Hospital (SJCRH), Memphis, Tennessee, United States of America.
  • Inaba H; St Jude Children's Research Hospital (SJCRH), Memphis, Tennessee, United States of America.
  • Hartford C; St Jude Children's Research Hospital (SJCRH), Memphis, Tennessee, United States of America.
  • Pui CH; St Jude Children's Research Hospital (SJCRH), Memphis, Tennessee, United States of America.
  • Pappo A; St Jude Children's Research Hospital (SJCRH), Memphis, Tennessee, United States of America.
  • Edmonson M; St Jude Children's Research Hospital (SJCRH), Memphis, Tennessee, United States of America.
  • Zhang MY; Fred Hutchinson Cancer Research Center and University of Washington, Seattle, Washington, United States of America.
  • Stepensky P; Pediatric Hematology/Oncology Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Steinherz P; Department of Medicine, Memorial Sloan Kettering Cancer Center (MSKCC), New York, New York, United States of America.
  • Schrader K; University of British Columbia, Vancouver, British Columbia, Canada.
  • Lincoln A; Department of Medicine, Memorial Sloan Kettering Cancer Center (MSKCC), New York, New York, United States of America.
  • Bussel J; Weill Cornell Medical College, New York, New York, United States of America.
  • Lipkin SM; Weill Cornell Medical College, New York, New York, United States of America.
  • Goldgur Y; Structural Biology Program, Sloan Kettering Institute, New York, New York, United States of America.
  • Harit M; Pediatric Hematology/Oncology Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Stadler ZK; Department of Medicine, Memorial Sloan Kettering Cancer Center (MSKCC), New York, New York, United States of America.
  • Mullighan C; St Jude Children's Research Hospital (SJCRH), Memphis, Tennessee, United States of America.
  • Weintraub M; Pediatric Hematology/Oncology Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Shimamura A; Fred Hutchinson Cancer Research Center and University of Washington, Seattle, Washington, United States of America; Seattle Children's Hospital, Seattle, Washington, United States of America.
  • Zhang J; St Jude Children's Research Hospital (SJCRH), Memphis, Tennessee, United States of America.
  • Downing JR; St Jude Children's Research Hospital (SJCRH), Memphis, Tennessee, United States of America.
  • Nichols KE; St Jude Children's Research Hospital (SJCRH), Memphis, Tennessee, United States of America.
  • Offit K; Department of Medicine, Memorial Sloan Kettering Cancer Center (MSKCC), New York, New York, United States of America; Cancer Biology and Genetics Program, Sloan Kettering Institute, New York, New York, United States of America; Weill Cornell Medical College, New York, New York, United States of Amer
PLoS Genet ; 11(6): e1005262, 2015 Jun.
Article en En | MEDLINE | ID: mdl-26102509
Somatic mutations affecting ETV6 often occur in acute lymphoblastic leukemia (ALL), the most common childhood malignancy. The genetic factors that predispose to ALL remain poorly understood. Here we identify a novel germline ETV6 p. L349P mutation in a kindred affected by thrombocytopenia and ALL. A second ETV6 p. N385fs mutation was identified in an unrelated kindred characterized by thrombocytopenia, ALL and secondary myelodysplasia/acute myeloid leukemia. Leukemic cells from the proband in the second kindred showed deletion of wild type ETV6 with retention of the ETV6 p. N385fs. Enforced expression of the ETV6 mutants revealed normal transcript and protein levels, but impaired nuclear localization. Accordingly, these mutants exhibited significantly reduced ability to regulate the transcription of ETV6 target genes. Our findings highlight a novel role for ETV6 in leukemia predisposition.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Represoras / Trombocitopenia / Mutación de Línea Germinal / Mutación Missense / Proteínas Proto-Oncogénicas c-ets / Leucemia-Linfoma Linfoblástico de Células Precursoras Tipo de estudio: Observational_studies / Prognostic_studies Límite: Humans Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Represoras / Trombocitopenia / Mutación de Línea Germinal / Mutación Missense / Proteínas Proto-Oncogénicas c-ets / Leucemia-Linfoma Linfoblástico de Células Precursoras Tipo de estudio: Observational_studies / Prognostic_studies Límite: Humans Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos