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Revista médica de Chile

versión impresa ISSN 0034-9887


MARTINEZ M, MÓNICA et al. Combined periampullary adenocarcinoma and neuroendocrine tumor in type 1 neurofibromatosis: Report of one case. Rev. méd. Chile [online]. 2011, vol.139, n.1, pp.84-88. ISSN 0034-9887.

Neurofibromatosis is a hereditary autosomal-dominant disease, with high rates ofde novo mutations and carries a high risk ofneoplasms. It affects both sexes and all races and ethnic groups. It is characterized by múltiple cutaneous lesions and tumors, both benign and malignant, especially in the nervous system. We report a 52 years old woman with a type 1 neurofibromatosis, presenting with fever, jaundice and weight loss. Onphysical examination, thepatientwasjaundiced and had "café au lait" spots in the skin. A magnetic resonance imaging showed bile duct dilation and a possible ampullarcarcinoma. Thepatientwas operated, duringthe exploration shepresented a periampullary tumor and múltiple small nodular lesions in the stomach, the tumor was resected with a pancreático dúo denectomy and the nodular gastric lesions were biopsied. Thepathological study revealed a combined adenocarcinoma and neuroendocrine duodenal tumor. The study ofthe stomach lesions revealed a gastrointestinal stromal tumor. Four months after surgery, the patient is in good conditions.

Palabras clave : Gastrointestinal stromal tumors; Neurofibromatoses; Pancreatico duodenectomy.

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