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

2021; Wolters Kluwer; Volume: 62; Linguagem: Inglês

10.1016/j.amsu.2021.01.033

2049-0801

Arcenio Luis Vargas Ávila, Amador Jiménez Leyva, Julián Vargas Flores, Victor Gibran Reyes Garcia, Israel De Alba Cruz, Hugo Fernando Narváez González, Teresa de Jesús Galicia Gómez,

Sarcoma Diagnosis and Treatment

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.