Bai GY, Shan KS, Li CS, Wang XH, Feng MY, Gao Y. Gastric gastrointestinal stromal tumor in a patient with neurofibromatosis type I presenting with anemia: A case report. World J Gastrointest Oncol 2025; 17(3): 99304 [DOI: 10.4251/wjgo.v17.i3.99304]
Corresponding Author of This Article
Ke-Shu Shan, PhD, Department of Gastrointestinal Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, No. 324 Jingwu Road, Jinan 250021, Shandong Province, China. sks1016@163.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/
Guang-Yang Bai, Ke-Shu Shan, Chen-Sheng Li, Department of Gastrointestinal Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong Province, China
Xiang-Hua Wang, Department of Hematology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong Province, China
Ming-Yang Feng, Department of Gastrointestinal Surgery, Yinan County People’s Hospital, Linyi 276399, Shandong Province, China
Yan Gao, Department of Pathology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong Province, China
Author contributions: Bai GY performed the literature search and wrote the manuscript; Shan KS reviewed the manuscript; Li CS contributed to the conception of the study; Wang XH, Feng MY, and Gao Y helped perform the analysis with constructive discussions.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
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: Ke-Shu Shan, PhD, Department of Gastrointestinal Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, No. 324 Jingwu Road, Jinan 250021, Shandong Province, China. sks1016@163.com
Received: July 19, 2024 Revised: November 24, 2024 Accepted: January 2, 2025 Published online: March 15, 2025 Processing time: 210 Days and 2.6 Hours
Abstract
BACKGROUND
Gastrointestinal stromal tumors (GISTs) are caused by mutations in the KIT and platelet derived growth factor receptor alpha genes in approximately 90% of cases. A minority of wild-type GISTs are associated with neurofibromatosis type 1 (NF1), an autosomal dominant genetic disease resulting from pathogenic mutations in the NF1 gene, which encodes the neurofibromin protein. NF1 patients often exhibit multi-system involvement, with café-au-lait macules and neurofibromas being characteristic symptoms. GISTs are a rare complication of NF1, with the tumors most frequently occurring in the small intestine (90% of cases), while occurrences in the stomach are rare.
CASE SUMMARY
A 51-year-old woman presented to the emergency department with complaints of dizziness, fatigue, chest tightness, and dark stools. Initial examination revealed a red blood cell count of 1.99 × 1012/L and a hemoglobin level of 43 g/L. She underwent blood transfusions and fluid replacement to stabilize her condition. Further investigations identified typical café-au-lait macules on her trunk, limbs, and face, along with neurofibromas. Endoscopy showed coffee-colored fluid in the gastric cavity, a large submucosal elevation with an exudative covering, and ulcer formation on the gastric fundus. Exploratory laparoscopy confirmed the tumor’s origin in the gastric fundus, and resection of the giant GIST was performed. Pathological analysis revealed a necrotic GIST measuring 18 cm × 14 cm, classified as high-risk, with approximately 5 mitotic figures per 10 high-power fields and no tumor at the margins. Immunohistochemistry results were CD117 (+), delay of germination 1 (+), CD34 (+), and succinate dehydrogenase complex iron sulfur subunit B intact expression. Genetic testing using next-generation sequencing confirmed an NF1 gene mutation. The patient underwent successful tumor resection and was discharged home with postoperative regorafenib therapy. A follow-up at one year showed no recurrence.
CONCLUSION
Given the diversity of clinical symptoms associated with NF1 and the complexity of NF1-related GISTs, surgical resection with complete tumor removal remains the preferred treatment option. However, the absence of a standardized treatment protocol for adjuvant therapy presents numerous challenges for clinicians.
Core Tip: Gastrointestinal stromal tumor (GIST) is one of the rare complications of neurofibromatosis type 1 (NF1). In NF1-related GISTs, tumors are more common in the small intestine (90%) and are rarely found in the stomach. The condition of NF1-related GIST is complex, and there is no standard treatment plan for postoperative adjuvant therapy. Postoperative regorafenib treatment was administered in this patient, and no recurrence was noted at the one-year follow-up.
