GIST associated with von recklinghausen disease: Report of two cases and review of literature

Abstract

Introduction and importance Neurofibromatosis type 1 (NF1), or Von Recklinghausen's disease, is an autosomal dominant condition that affects the central nervous system. Gastrointestinal stromal tumor (GIST) refers to non-epithelial tumors of the gastrointestinal tract lacking smooth muscle structural features and schwann cell immunohistochemical characteristics. The risk of patients with NF1 to develop a GIST is 7%. Case presentation GIST is a soft tissue sarcoma that probably arises from the interstitial Cajal cells of the intestine. GIST associated with NF1 syndrome appears to have a distinct phenotype, occurring in younger patients compared to sporadic GIST. Clinical discussion The clinical presentation can be highly variable, the association of gastrointestinal tumors associated with Von Recklinghausen's disease is up to 7%, postoperative treatment with imatinib is reserved for patients with a high risk of recurrence. Conclusion The treatment of primary GIST is complete surgical resection with free microscopic margins and an intact pseudocapsule.

Multiple Small Bowel Gastrointestinal Stromal Tumors Associated with Neurofibromatosis Type 1 that Were Not Detected by Endoscopy: A Case Report

“…Imatinib is considered a standard treatment for postsurgical residual GISTs. However, as c-kit overexpression is absent in most NF1-related GISTs, the efficacy of tyrosine kinase inhibitors such as imatinib for treating residual tumors is unclear [8][9][10].…”

Doença de Von Recklinghausen: uma abordagem diagnóstica, evolução clínica e revisão

“…Dentre as manifestações gastrointestinais, os autores Avila et al (2021) descreveram acerca de paciente sexo feminino de 54 anos com história de diagnóstico de NF1 aos 35 anos, em que apresentara episódios hemorrágicos sendo diagnosticada com pólipo duodenal localizado na segunda porção do duodeno, no qual o estudo anatomopatológico revelou tumor duodenal compatível com tumor estromal gastrointestinal de baixo risco de malignidade.…”

A Rare Case of Multiple Gastrointestinal Stromal Tumors Coexisting with a Rectal Adenocarcinoma in a Patient with Attenuated Familial Adenomatous Polyposis Syndrome and a Mini Review of the Literature

“…NF1 is an autosomal dominant disease that has, as major characteristics, neurofibromas and café-au-lait spots and is caused by germline NF1 mutations [19]. There is a well-known association between GISTs and NF1, and there is a 7% risk for patients with NF1 to develop a GIST [20]. Most NF1-associated GISTs are less aggressive regarding their clinical and pathological features, present as numerous small, asymptomatic lesions in the small intestine, in most cases, and, rarely, are KIT or PDGFRA mutants [5,9].…”