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.
신경섬유종증이 있는 환자에서 위장관 기질종양은 일반인보다 잘 발생하며 이때 KIT 유전자 변이를 나타내는 경우는 드물다. 저자들은 내원 30년 전 제1형 신경섬유종증을 진단받은 환자가 7일간의 심와부 통증으로 내원하여 시행한 복부 전산화단층촬영에서 십이지장부위의 위장관 기질종양을 확인하였다. 수술 후 KIT 유전자 변이 음성인 위장관 기질종양을 진단하였으나 재발의 위험이 큰 고위험군으로 수술 후 보조요법으로 imatinib을 사용하였고 이후 4년간 재발 소견 없이 추적관찰 중인 증례를 경험하여 문헌고찰과 함께 보고하는 바이다.
