Appraising Treatment for Gastrointestinal Stromal Tumors of the Wild-Type Mutation in the Setting of NF1: A Case Report
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Abstract
Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms that can occur anywhere in the GI tract, but commonly present in the stomach and small bowel. Here we present a 39-year-old male with a suspected GIST in the setting of type I neurofibromatosis (NF1). Given the history of NF1 and presumable insensitivity to Imatinib, surgical oncology opted for resection of the mass after discussion with the multidisciplinary sarcoma tumor board. Instead of neoadjuvant therapeutic options for wild-type (WT) NF1-related GIST, surgical resection remains the most advantageous treatment. The efficacy of tyrosine kinase inhibition and other chemotherapies tailored for WT GIST is currently untenable and warrants increased clinical trials and exploration of WT pathogenesis concerning NF1 to support Imatinib-sensitive patients.
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2. Cedars Sinai: Gastrointestinal Stromal Tumor (GIST) [https://www.cedars-sinai.org/]. Los Angeles: Cedars Sinai; c1995-2024 [updated 2022; cited 2024 May 14]. Available from: https://www.cedars-sinai.org/health-library/diseases-and-conditions/g/gastrointestinal-stromal-tumor-gist.html. Accessed: August 10, 2023.
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8. NIH: NF1 Associated with More Cancer Types than Previously known [https://www.cancer.gov/]. USA: NIH; c1990s-2024 [updated 2021 Apr 21; cited 2024 May 14]. Available from https://www.cancer.gov/news-events/cancer- currents-blog/2021/nf1-associated-with-more-cancer-types. Accessed: August 10, 2023
9. Valencia E, Saif MW. Neurofibromatosis type 1 and GIST: is there a correlation?. Anticancer Res. 2014. 34(10):5609-2.
10. Bulusu VR, Casey R, Giger O, et al. Neurofibromatosis 1 (NF1) and gastrointestinal stromal tumors (GISTs): five-year experience from a regional center in United Kingdom. J Clin Oncol. 2019; 37(15 Suppl):11035.
11. Zhang W, Hu X, Chen Z, et al. Case report: neurofibromatosis type 1 gastrointestinal stromal tumor and small bowel adenocarcinoma with a novel germline NF1 frameshift mutation. Front Oncol. 2022; 12:1025799.
12. Kramer K, Knippschild U, Mayer B, et al. Impact of age and gender on tumor related prognosis in gastrointestinal stromal tumors (GIST). BMC cancer. 2015. 15:57.
13. Kays JK, Sohn JD, Kim BJ, et al. Approach to wild-type gastrointestinal stromal tumors. Transl Gastroenterol Hepatol. 2018; 3:92.
14. Klesse LJ, Jordan JT, Radtke HB, et al. The use of MEK inhibitors in neurofibromatosis type 1-associated tumors and management of toxicities. Oncologist. 2020; 25(7):e1109-e1116.
15. Nishida T. Therapeutic strategies for wild-type gastrointestinal stromal tumor: is it different from KIT or PDGFRA-mutated GISTs?. Transl Gastroenterol Hepatol. 2017.2:92.
2. Cedars Sinai: Gastrointestinal Stromal Tumor (GIST) [https://www.cedars-sinai.org/]. Los Angeles: Cedars Sinai; c1995-2024 [updated 2022; cited 2024 May 14]. Available from: https://www.cedars-sinai.org/health-library/diseases-and-conditions/g/gastrointestinal-stromal-tumor-gist.html. Accessed: August 10, 2023.
3. Gerrish ST, Smith JW. Gastrointestinal stromal tumors—diagnosis and management: a brief review. Ochsner J. 2008; 8(4):197-204.
4. Oppelt PJ, Hirbe AC, Van Tine BA. Gastrointestinal stromal tumors (GISTs): point mutations matter in management, a review. J Gastrointest Oncol. 2017; 8(3):466-473.
5. OncologyPro: KIT and PDGFRA Wild-type Gastrointestinal Stromal Tumours (GISTs): ESMO Biomarker Factsheet [https://oncology.pro.esmo.org/]. Bordeaux: OncologyPro; c1975-2024 [updated 2018 Jul 5; cited 2024 May 14]. Available from https://oncologypro.esmo.org/education-library/factsheets-on- biomarkers/kit-and-pdgfra-wild-type-gastrointestinal-stromal-tumours-gists. Accessed: August 10, 2023
6. Rustin P, Munnich A, Rötig A. Succinate dehydrogenase and human diseases: new insights into a well-known enzyme. Eur J Hum Genet. 2002; 10(5):289-91.
7. MedlinePlus: Neurofibromatosis Type 1 [https://medlineplus.gov/]. USA: MedlinePlus; c1998-2024 [updated 2020 Jul 1; cited 2024 May 14]. Available from https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1/. Accessed: August 10, 2023
8. NIH: NF1 Associated with More Cancer Types than Previously known [https://www.cancer.gov/]. USA: NIH; c1990s-2024 [updated 2021 Apr 21; cited 2024 May 14]. Available from https://www.cancer.gov/news-events/cancer- currents-blog/2021/nf1-associated-with-more-cancer-types. Accessed: August 10, 2023
9. Valencia E, Saif MW. Neurofibromatosis type 1 and GIST: is there a correlation?. Anticancer Res. 2014. 34(10):5609-2.
10. Bulusu VR, Casey R, Giger O, et al. Neurofibromatosis 1 (NF1) and gastrointestinal stromal tumors (GISTs): five-year experience from a regional center in United Kingdom. J Clin Oncol. 2019; 37(15 Suppl):11035.
11. Zhang W, Hu X, Chen Z, et al. Case report: neurofibromatosis type 1 gastrointestinal stromal tumor and small bowel adenocarcinoma with a novel germline NF1 frameshift mutation. Front Oncol. 2022; 12:1025799.
12. Kramer K, Knippschild U, Mayer B, et al. Impact of age and gender on tumor related prognosis in gastrointestinal stromal tumors (GIST). BMC cancer. 2015. 15:57.
13. Kays JK, Sohn JD, Kim BJ, et al. Approach to wild-type gastrointestinal stromal tumors. Transl Gastroenterol Hepatol. 2018; 3:92.
14. Klesse LJ, Jordan JT, Radtke HB, et al. The use of MEK inhibitors in neurofibromatosis type 1-associated tumors and management of toxicities. Oncologist. 2020; 25(7):e1109-e1116.
15. Nishida T. Therapeutic strategies for wild-type gastrointestinal stromal tumor: is it different from KIT or PDGFRA-mutated GISTs?. Transl Gastroenterol Hepatol. 2017.2:92.
| Files | ||
| Issue | Vol 19 No 3 (2025) | |
| Section | Case Report(s) | |
| Keywords | ||
| Gastrointestinal stromal tumor; Chemotherapy; Neurofibromatosis (NF1); Next generation sequencing; Pathogenesis | ||
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Gundala D, Joung R, Wells A, Hardy A, Abad J, Chawla A. Appraising Treatment for Gastrointestinal Stromal Tumors of the Wild-Type Mutation in the Setting of NF1: A Case Report. Int J Hematol Oncol Stem Cell Res. 2025;19(3):296-302.
