Gastrointestinal Stromal Tumors in a Patient with Neurofibromatosis Type 1.
- Author:
Kang Kook LEE
1
;
Han Byul KIM
;
Mi Hwa HEO
;
Jin Young KIM
;
Young Rok DO
;
Keon Uk PARK
;
Hong Suk SONG
Author Information
1. Department of Internal Medicine, Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea. shs7436@dsmc.or.kr
- Publication Type:Original Article
- Keywords:
Neurofibromatosis;
Gastrointestinal stromal tumors;
Imatinib
- MeSH:
Benzamides;
Cytosine;
Gastrointestinal Stromal Tumors*;
Gastrointestinal Tract;
Genes, Neurofibromatosis 1;
Humans;
Middle Aged;
Neural Plate;
Neurofibromatoses*;
Neurofibromatosis 1*;
Piperazines;
Pyrimidines;
Sarcoma;
Thymine;
Vomiting;
Imatinib Mesylate
- From:Korean Journal of Medicine
2013;85(5):535-539
- CountryRepublic of Korea
- Language:Korean
-
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.
