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Revista médica de Chile

versão impressa ISSN 0034-9887

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BELTRAN, Marcelo A et al. Gastrointestinal stromal tumor (GIST) in a patient with neurofibromatosis type 1. Report of one case. Rev. méd. Chile [online]. 2009, vol.137, n.9, pp.1197-1200. ISSN 0034-9887.  http://dx.doi.org/10.4067/S0034-98872009000900009.

Neurofibromatosis Type 1 (NF1) is an autosomic dominant condition affecting the central nervous systema and presenting a disposition towards development of gastrointestinal stromal tumors (GIST). We report a 38year-old female patient with neurofibromatosis type 1 that required emergency surgery due to a perforated GIST originating in the fourth duodenal portion. The GIST, and the fourth duodenal portion, were excised and a primary duodenum-jejunal anastomosis was performed. The pathological study showed a partially necrotic solid-cystic tumor with 1 to 2 mitoses per 50-high-power fields. The cells stained positively to CD 117, CD34 and Desmin, and were negative to S-100, Vimentin, and Smooth Muscle a-Actin. The patient is currently asymptomatic and under follow-up during the last 11 months after surgery (Rev Méd Chile 2009; 137:1197-200).

Palavras-chave : Gastrointestinal stromal tumors; Neurofibromatosis 1; Protein kinase inhitors.

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