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Gastrointestinal Stromal Tumors in a Patient with Neurofibromatosis Type 1 / 대한내과학회지
Korean Journal of Medicine ; : 535-539, 2013.
Article in Korean | 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.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Piperazines / Pyrimidines / Sarcoma / Thymine / Vomiting / Benzamides / Genes, Neurofibromatosis 1 / Neurofibromatosis 1 / Neurofibromatoses / Cytosine Limits: Humans Language: Korean Journal: Korean Journal of Medicine Year: 2013 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Piperazines / Pyrimidines / Sarcoma / Thymine / Vomiting / Benzamides / Genes, Neurofibromatosis 1 / Neurofibromatosis 1 / Neurofibromatoses / Cytosine Limits: Humans Language: Korean Journal: Korean Journal of Medicine Year: 2013 Type: Article