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Gastrointestinal Stromal Tumors in a Patient with Neurofibromatosis Type 1 / 대한내과학회지
Korean Journal of Medicine ; : 535-539, 2013.
Artigo em Coreano | WPRIM | ID: wpr-144644
ABSTRACT
Neurofibromatosis type 1 (NF1) is a genetic disease characterized by neoplastic and non-neoplastic disorders involving tissues of neuroectodermal and mesenchymal origin. NF1 is caused by mutations in the NF1 gene, which is found on chromosome 17q11.2. Patients with NF1 are at increased risk of developing soft tissue sarcomas that arise within the stromal compartment of the gastrointestinal tract, termed gastrointestinal stromal tumors (GISTs). GISTs associated with neurofibromatosis differ from sporadic GISTs, particularly with respect to their lower response rate to imatinib. We recently experienced a case involving a 45-year-old man with NF1 who was admitted to the hospital with epigastric pain and vomiting. Abdominal computed tomography revealed a duodenal GIST with pancreatic invasion. He had a base substitution mutation involving replacement of 2041 cytosine with thymine. He was treated successfully with a surgical operation and adjuvant imatinib therapy.
Assuntos

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Piperazinas / Pirimidinas / Sarcoma / Timina / Vômito / Benzamidas / Genes da Neurofibromatose 1 / Neurofibromatose 1 / Neurofibromatoses / Citosina Limite: Humanos Idioma: Coreano Revista: Korean Journal of Medicine Ano de publicação: 2013 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Piperazinas / Pirimidinas / Sarcoma / Timina / Vômito / Benzamidas / Genes da Neurofibromatose 1 / Neurofibromatose 1 / Neurofibromatoses / Citosina Limite: Humanos Idioma: Coreano Revista: Korean Journal of Medicine Ano de publicação: 2013 Tipo de documento: Artigo