Type 1 neurofibromatosis (NF-1) is an autosomal dominant disorder with variable penetrance; approximately 50% of the cases present as new mutations. The major diagnostic criterion includes multiple cutaneous neurofibromas, axillary or inguinal freckling,
café au lait spots, Lisch nodules (pigmented iris hamartomas) and a first-degree family history of NF-1 [
1]. The gene for NF-1 has been identified on chromosome 17. NF-1 gene encodes a GTPase activating protein that has the potential to regulate the activity of the p21 product of the ras oncogene and the gene has been suggested to play an important role in controlling cell proliferation and differentiation in a wide range of tissues [
2]. Gastrointestinal tract lesions are not uncommon in NF-1, and typically vary from gut neural tissue hyperplasia to gastrointestinal stromal and endocrine cell tumours; there are only rare reports of a miscellaneous group of other malignant neoplasms [
3]. Gastrointestinal stromal tumours (GIST) have been histologically identified as neurofibromas, leiomyomas, leiomyosarcomas, schwannomas, autonomic nerve tumours (GANT) and stromal tumours without any definite nerve or muscular differentiation, which have been hypothesised as originating from interstitial cells of Cajal (ICC) [
3‐
6]. Gastrointestinal lesions associated with NF-1, although usually asymptomatic, may present as abdominal pain, dyspepsia, vomiting, anaemia, melaena, haematemesis, haematochezia, intussusception, volvulus, small bowel obstruction, fever and abdominal mass. The case reported by Karatzas
et al., [
7] mentions the coexistence between ampullary carcinoid, ectopic pancreatic tissue in the jejunum and neurofibroma of the jejunum in NF-1. The association of synchronous carcinoma of the ampulla of Vater and gastrointestinal stromal tumour of the jejunum in NF-1 has not been previously described.