Year 2025 / Volume 117 / Number 3
Letter
Double-balloon enteroscopy for the detection of GIST in a patient with type 1 neurofibromatosis

161-162

DOI: 10.17235/reed.2024.10351/2024

Li-Liangzi Guo, Jie-Li Chen, Li-Sheng Wang, Jun Yao,

Abstract
NF1 is an autosomal dominant hereditary disease, with a prevalence of at least 1 in 4000-5000 population. The diagnosis criteria of NF1 included typical manifestations such as café-au-lait spots, frecking in the axilla or inguinal region, multiple neurofibromas, Lisch nodeules, and distinctive osseous lesions. Genetic testing shows NF1 mutation. It is essential for tumor surveillance in NF1 patients because their life expectancy is about 54 years due to malignancy. A case of NF-1 patient receive laparoscopic small bowel resection and finally diagnosed as adenocarcinoma and ganglioneuroma. About 25% of NF1 patients had GISTs , most of them were asymptomatic and some may manifest with abdominal pain, bowel obstruction, or gastrointestinal bleeding. CT and MRI are commonly used imaging modalities for GIST in NF1, while they may be negative sometimes. As DBE a more practical and non-invasive method now, we consider it is a valuable method for screening and early detecting small intestine disease for NF1 patients.
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References
1. Ferner RE. The neurofibromatoses. Pract Neurol 2010; 10(2): 82-93.
2. Kresak JL, Walsh M. Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis. J Pediatr Genet 2016; 5(2): 98-104.
3. Zhao Y, Shi L. Coexistence of small bowel gastrointestinal stromal tumor, small bowel adenocarcinoma, and ganglioneuroma in a patient with neurofibromatosis type I and caused intussusception. Rev Esp Enferm Dig. 2023 Sep 21. doi: 10.17235/reed.2023.9896/2023. Epub ahead of print. PMID: 37732340.
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Guo L, Chen J, Wang L, Yao J. Double-balloon enteroscopy for the detection of GIST in a patient with type 1 neurofibromatosis . 10351/2024


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Publication history

Received: 19/02/2024

Accepted: 04/03/2024

Online First: 12/03/2024

Published: 06/03/2025

Article Online First time: 22 days

Article editing time: 381 days


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