RESUMEN
BACKGROUND: Neurofibromatosis is a genetic autosomal dominant disease characterized by multiple skin nodules and hyperpigmentation. This condition is frequently associated with a large variety of neoplasia, including gastrointestinal stromal tumors (GIST) in about 6% of cases. We present a case of neurofibromatosis associated GIST. CASE REPORT: A 57 year-old male patient with Von Recklinghausen disease was referred into our service after he was discovered with a 7 mm nodular formation in contact with the pancreatic head, during a routine abdominal ultrasonography. Ultrasound examination performed into our service reveals a nodular formation with hypoechoic circumference, central translucency, with central necrosis, contrast medium uptake and dimensions at about 78/49/77 mm, without peritoneal fluid content. Trans-gastric biopsy specimen shows mesenchymal proliferation with spindle cells and elongated nuclei and c-kit intensely positive. The diagnosis was gastrointestinal stromal tumor. Delimitation towards pancreatic head was unclear. A cephalic duodenopacreatectomy was performed. Morphopathology confirmed a multifocal GIST of low grade G1, in the second stage. CONCLUSION: A rare case of neurofibromatosis associated GIST with multifocal localization was successfully treated by cephalic duodenopancreatectomy. KEY WORDS: Neurofibromatosis type 1 (NF1), Retroperitoneal Gastrointestinal Stromal Tumor (GIST).
Asunto(s)
Neoplasias Duodenales/cirugía , Tumores del Estroma Gastrointestinal/cirugía , Neurofibromatosis 1 , Pancreaticoduodenectomía/métodos , Enfermedades Asintomáticas , Colelitiasis/etiología , Neoplasias Duodenales/diagnóstico por imagen , Neoplasias Duodenales/genética , Neoplasias Duodenales/patología , Tumores del Estroma Gastrointestinal/diagnóstico por imagen , Tumores del Estroma Gastrointestinal/genética , Tumores del Estroma Gastrointestinal/patología , Humanos , Hallazgos Incidentales , Neoplasias Intestinales/genética , Neoplasias Intestinales/cirugía , Masculino , Persona de Mediana Edad , Neoplasias Primarias Múltiples/genética , Neurofibroma/genética , Neurofibroma/cirugía , Páncreas/patología , Neoplasias Cutáneas/genética , UltrasonografíaRESUMEN
Endometriosis is a disease represented by the presence of extra uterine endometrial tissue. It is a rare condition, and malignant transformation is seldom. We report a case with clear cell adenocarcinoma oncogenesis on abdominal wall scar that appeared after years of a caesarian section. After diagnosis, surgical treatment was performed twice, due to the fact that the margins were infiltrated with tumor cells, with replacement of the defect with a polypropylene mesh. The patient was cured and discharged with a favorable prognostic. To the best of our knowledge, there are few reported cases of clear cell adenocarcinoma arising from abdominal wall endometriosis. It is a rare condition that appears mostly after abdominal surgical interventions that clinicians must be aware. KEY WORDS: Abdominal wall, Endometriosis, Cesarean section, Clear cell adenocarcinoma, Malignant transformation.