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

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%. 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. 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. The treatment of primary GIST is complete surgical resection with free microscopic margins and an intact pseudocapsule. •The risk of patients with NF1 to develop a GIST is 7%.•GIST associated with NF1 syndrome appears to have a distinct phenotype.•Treatment of primary GIST is surgical resection with free microscopic margins.