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Duodenal neuroendocrine tumour in a young patient with von Recklinghausen disease
Von Recklinghausen disease (neurofibromatosis type 1—NFT1) is a genetic disorder with autosomal dominant inheritance pattern, caused by mutation of a tumour suppressor gene. Its main features include multiple cutaneous café-au-lait spots and neurofibromas. It is associated with an increased risk of...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054206/ https://www.ncbi.nlm.nih.gov/pubmed/32153765 http://dx.doi.org/10.1093/jscr/rjaa039 |
Sumario: | Von Recklinghausen disease (neurofibromatosis type 1—NFT1) is a genetic disorder with autosomal dominant inheritance pattern, caused by mutation of a tumour suppressor gene. Its main features include multiple cutaneous café-au-lait spots and neurofibromas. It is associated with an increased risk of developing neuroendocrine tumours, for instance, in the duodenum. The authors present a case of a 23-year-old male patient admitted to the emergency department due to persistent vomiting. Imaging and biopsy studies revealed an obstructive and large duodenal neuroendocrine tumour; hence the patient underwent a pancreaticoduodenectomy. |
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