RESUMO
Neurofibromatosis is a hereditary autosomal-dominant disease with high rates of de novo mutations, and carries a high risk of neoplasms. It affects both sexes and all races and ethnic groups. It is characterized by multiple cutaneous lesions and tumors, both benign and malignant, especially in the nervous system. We report a 52-year-old woman with a type 1 neurofibromatosis, presenting with fever, jaundice and weight loss. On physical examination, the patient was jaundiced and had "café au lait" spots in the skin. A magnetic resonance imaging showed bile duct dilation and a possible ampullar carcinoma. The patient was operated, during the exploration she presented a periampullary tumor and multiple small nodular lesions in the stomach, the tumor was resected with a pancreaticoduodenectomy and the nodular gastric lesions were biopsied. The pathological study revealed a combined adenocarcinoma and neuroendocrine duodenal tumor. The study of the stomach lesions revealed a gastrointestinal stromal tumor. Four months after surgery, the patient is in good condition.
Assuntos
Adenocarcinoma/patologia , Neoplasias Duodenais/patologia , Tumores do Estroma Gastrointestinal/patologia , Neoplasias Primárias Múltiplas/patologia , Tumores Neuroendócrinos/patologia , Neurofibromatose 1/complicações , Manchas Café com Leite/patologia , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
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.