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Case Report
Neurofibromatosis type 1-associated gastrointestinal stromal tumor: A case report and review of the literature
1 General Surgery Department, São João University Medical Center, Oporto, Portugal
2 Pathology Department, São João University Medical Center, Oporto, Portugal
3 Oncology Department, São João University Medical Center, Oporto, Portugal
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Elisabete do Vale Campos
Centro Hospitalar Universitário de São João, Alameda Prof. Hernâni Monteiro, 4200-319 Port,
Portugal
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Article ID: 100100Z12EC2022
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Campos E, Coelho AR, Freitas MB, Aral M, de Almeida M, Tavares NT, Fonseca E, Melo RB, Barbosa E. Neurofibromatosis type 1-associated gastrointestinal stromal tumor: A case report and review of the literature. J Case Rep Images Surg 2022;8(1):5–10.ABSTRACT
Introduction: Gastrointestinal stromal tumors (GIST), although very rare, are the most common mesenchymal neoplasms of the gastrointestinal tract and develop in approximately 5–25% of patients with neurofibromatosis type 1 (NF1). Neurofibromatosis type 1-associated GIST (NF1-GIST) differ phenotypically and genotypically from sporadic GIST, neither present receptor tyrosine kinase (KIT) or platelet-derived growth factor receptor-alfa (PDGFR-alfa) mutation and have propensity to be multifocal and to occur in the small bowel.
Case Report: We present a case of NF1-GIST, with multiple primary lesions, initially diagnosed as metastatic GIST, with treatment implications.
Conclusion: Different characteristics of NF1-GIST should be empathized so the evidence of multifocal GIST not be confused with advanced/metastatic GIST, influencing treatment options. Identifying this tumor early allows surgical treatment with potential cure, because GIST are mostly treatable tumors with indolent behavior. Currently, no standard drug therapy for unresectable or relapsed NF1-GIST has been established.
Keywords: Case report, Gastrointestinal stromal tumor, Neurofibromatosis type 1
SUPPORTING INFORMATION
Author Contributions
Elisabete do Vale Campos - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Ana Rita Coelho - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Marta Baptista Freitas - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Marisa Aral - Revising it critically for important intellectual content, Final approval of the version to be published
Marinho de Almeida - Revising it critically for important intellectual content, Final approval of the version to be published
Nuno Teixeira Tavares - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Elsa Fonseca - Analysis of data, Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Renato Bessa Melo - Acquisition of data, Analysis of data, Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Elisabete Barbosa - Revising it critically for important intellectual content, Final approval of the version to be published
Guarantor of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2022 Elisabete Campos et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
