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  • Title: Coexistence of a small bowel gastrointestinal stromal tumor, small bowel adenocarcinoma and ganglioneuroma in a patient with neurofibromatosis type I caused intussusception.
    Author: Zhao Y, Shi L.
    Journal: Rev Esp Enferm Dig; 2024 May; 116(5):291-292. PubMed ID: 37732340.
    Abstract:
    Neurofibromatosis type I is a relatively rare inherited disorder. Simultaneous occurrence of abdominal tumors of three types in NF-I and causing intussusception is rare. We report a synchronous case of small bowel gastrointestinal stromal tumor, small bowel adenocarcinoma, and ganglioneuroma complicated by intussusception in an old woman with NF-I. The patient presented with a 2-month history of abdominal pain and multiple neurofibromas and café au lait macules was found all over the patient's body. The enhanced computed tomography revealed a terminal ileal tumor which was significantly enhanced with secondary intussusception. The tumor of the ileum was considered to be NF-I-associated intestinal neurofibroma.Postoperative pathology and immunohistochemistry showed that the terminal ileocecal mass was adenocarcinoma and ganglioneuroma and intraoperative exploration also revealed a gastrointestinal stromal tumor. In this patient, the preoperative imaging was not compatible with the pathological findings.Either neurofibromatosis involving the intestine or neurofibromatosis with small bowel tumors should be managed aggressively to improve the patient's survival and quality of life.
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