ArticleJournal of medical case reports2022
Challenges in the management of metastatic gastrointestinal stromal tumor in a patient with neurofibromatosis type 1: a case report.
Article in Journal of medical case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 4 citations in OpenAlex.
- Genomic profiling in GIST: Implications in clinical outcome and future challenges.Neoplasia (New York, N.Y.) · 2024Review
- Neurofibromatosis Type-2 presenting with vision impairment.Pakistan journal of medical sciencesArticle
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4 authors at 1 institution in 1 country.
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Abstract
backgroundNeurofibromatosis type 1 is an inherited cancer predisposition syndrome that is caused by a mutation in the NF1 gene that encodes neurofibromin. Patients with neurofibromatosis type 1 have a higher risk of gastrointestinal stromal tumor. This study reports the case of a patient with gastrointestinal stromal tumor who was later diagnosed to have neurofibromatosis type 1 and, unlike usual features, had some uncommon features such as occurrence at an early age and unusual site of origin. CASE: We report the case of a 29-year-old Indian female diagnosed to have gastrointestinal stromal tumor originating from the greater curvature of the stomach. Gastrointestinal stromal tumor was wild type, negative for c-kit and platelet-derived growth factor receptor, and had an aggressive clinical course not responding to oral tyrosine kinase inhibitors. On later evaluation, we found that the patient had germline mutation in NF1. This case has some unusual features compared with gastrointestinal stromal tumor cases reported in neurofibromatosis type 1. Firstly, the age of onset for gastrointestinal stromal tumor in neurofibromatosis type 1 is earlier in our case compared with previous cases reported in literature. Secondly, the site of occurrence is in the stomach, without involving other parts of the intestine. Gastrointestinal stromal tumor in neurofibromatosis type 1 is usually multifocal, and small intestine is the common site of occurrence. When occurring in the stomach, it is usually associated with other lesions in the small intestine. Lastly, the clinical course is aggressive compared with previous case reports and series.
conclusionOur patient had germline NF1 mutation and cutaneous stigmata of neurofibromatosis. Our patient had unicentric gastrointestinal stromal tumor occurring at younger age and involving greater curvature of the stomach, with spindle cell type histology and high-risk features. If gastrointestinal stromal tumor occurs at young age, we should look into neurocutaneous markers.
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