Small bowel gastrointestinal stromal tumours and ampullary cancer in Type 1 neurofibromatosis.

BACKGROUND

Type 1 neurofibromatosis (NF-1) is an autosomal dominant disorder with variable penetrance; approximately 50% of cases present as new mutations

CASE REPORT: We report a case of a 56 year-old man with Von Recklinghausen's disease, carcinoma of the ampulla of Vater and incidental benign gastrointestinal stromal tumours of the jejunum.

CONCLUSIONS

Coexistence between ampullary carcinoid, ectopic pancreatic tissue in the jejunum and neurofibroma of the jejunum in NF-1 has been previously described however; the association of synchronous carcinoma of the ampulla of Vater and gastrointestinal stromal tumour of the jejunum in NF-1 has not been previously reported.