Yao MQ, Jiang YP, Yi BH, Yang Y, Sun DZ, Fan JX. Neurofibromatosis type 1 with multiple gastrointestinal stromal tumors: A case report. World J Clin Cases 2023; 11(10): 2336-2342 [PMID: 37122520 DOI: 10.12998/wjcc.v11.i10.2336]
Corresponding Author of This Article
Jin-Xing Fan, BSc, Nurse, Endoscopy Center, Tongxiang First People’s Hospital, No. 1918 Jiaochang East Road, Jiaxing 314500, Zhejiang Province, China. 116304728@qq.com
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Min-Quan Yao, Yu-Peng Jiang, Bing-Hong Yi, Yong Yang, Da-Zhuang Sun, Department of Gastrointestinal Surgery, Tongxiang First People’s Hospital, Jiaxing 314500, Zhejiang Province, China
Jin-Xing Fan, Endoscopy Center, Tongxiang First People’s Hospital, Jiaxing 314500, Zhejiang Province, China
Author contributions: Yao MQ and Jiang YP wrote the manuscript; Yang Y and Sun DZ collected the information and images; Yi BH and Fan JX reviewed the manuscript; all authors were involved in drafting the manuscript and revising it critically for important intellectual content, read and approved the final manuscript, and take public responsibility for appropriate portions of the content and have agreed to be accountable for all aspects of the work.
Supported byClinical Research Fund Project of Zhejiang Medical Association, China, No. 2021ZYC-A173.
Informed consent statement: Informed consent was obtained from the patient for publication of this report.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Jin-Xing Fan, BSc, Nurse, Endoscopy Center, Tongxiang First People’s Hospital, No. 1918 Jiaochang East Road, Jiaxing 314500, Zhejiang Province, China. 116304728@qq.com
Received: December 21, 2022 Peer-review started: December 21, 2022 First decision: January 20, 2023 Revised: February 1, 2023 Accepted: March 14, 2023 Article in press: March 14, 2023 Published online: April 6, 2023 Processing time: 99 Days and 9.2 Hours
Abstract
BACKGROUND
Neurofibromatosis type 1 (NF1) is characterized by café-au-lait patches on the skin and the presence of neurofibromas. Gastrointestinal stromal tumor (GIST) is the most common non-neurological tumor in NF1 patients. In NF1-associated GIST, KIT and PDGFRA mutations are frequently absent and imatinib is ineffective. Surgical resection is first-line treatment.
CASE SUMMARY
A 56-year-old woman with NF1 was hospitalized because of an incidental pelvic mass. Physical examination was notable for multiple café-au-lait patches and numerous subcutaneous soft nodular masses of the skin of the head, face, trunk, and limbs. Her abdomen was soft and nontender. No masses were palpated. Digital rectal examination was unremarkable. Abdominal computed tomography was suspicious for GIST or solitary fibrous tumor. Laparoscopy was performed, which identified eight well-demarcated masses in the jejunum. All were resected and pathologically diagnosed as GISTs. The patient was discharged on day 7 after surgery without complications. No tumor recurrence was evident at the 6-mo follow-up.
CONCLUSION
Laparoscopy is effective for both diagnosis and treatment of NF1-associated GIST.
Core Tip: A thorough medical history and physical examination are imperative in patients with neurofibromatosis type 1 and gastrointestinal symptoms. Such symptoms may indicate the presence of one or more gastrointestinal stromal tumors. Abdominal computed tomography, capsule endoscopy, or small bowel endoscopy should be performed. Laparoscopy may also be performed for both diagnosis and treatment.
