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Malignant triton tumor in a patient with Li-Fraumeni syndrome and a novel TP53 mutation.
Chao, Mwe Mwe; Levine, John E; Ruiz, Robert E; Kohlmann, Wendy K; Bower, Matthew A; Petty, Elizabeth M; Mody, Rajen J.
Afiliación
  • Chao MM; Department of Pediatric Hematology-Oncology and Bone Marrow Transplantation, University of Michigan Health System, Ann Arbor, Michigan 48109-0914, USA. mmchao@umich.edu
Pediatr Blood Cancer ; 49(7): 1000-4, 2007 Dec.
Article en En | MEDLINE | ID: mdl-16333835
We report a 3-year-old boy with a malignant triton tumor (MTT) involving the left masticator space with local invasion and regional lymph node metastasis. Family history and detection of a novel germline TP53 mutation confirmed his diagnosis of Li Fraumeni syndrome (LFS). MTT has not been previously described in association with LFS. This case along with a comprehensive review of the literature, illustrate the importance of both somatic and germline TP53 mutations in the pathogenesis MTT. The tumor could not be resected and he was successfully treated with intensive induction chemotherapy, irradiation, and high-dose chemotherapy with autologous stem cell transplantation.
Asunto(s)
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Nasales / Proteína p53 Supresora de Tumor / Síndrome de Li-Fraumeni / Neoplasias de la Vaina del Nervio / Mutación de Línea Germinal Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Pediatr Blood Cancer Asunto de la revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Año: 2007 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Nasales / Proteína p53 Supresora de Tumor / Síndrome de Li-Fraumeni / Neoplasias de la Vaina del Nervio / Mutación de Línea Germinal Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Pediatr Blood Cancer Asunto de la revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Año: 2007 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos