Small bowel gastrointestinal stromal tumours and ampullary cancer in Type 1 neurofibromatosis
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Open Access
Case report
Small bowel gastrointestinal stromal tumours and ampullary cancer in Type 1 neurofibromatosis Kasim A Behranwala*1, Duncan Spalding1, Andrew Wotherspoon2, Cyril Fisher2 and Jeremy N Thompson1 Address: 1Gastrointestinal Surgery Unit, Royal Marsden NHS Trust, 203 Fulham Road, London SW3 6JJ, UK and 2Department of Pathology, Royal Marsden NHS Trust, 203 Fulham Road, London SW3 6JJ, UK Email: Kasim A Behranwala* - [email protected]; Duncan Spalding - [email protected]; Andrew Wotherspoon - [email protected]; Cyril Fisher - [email protected]; Jeremy N Thompson - [email protected] * Corresponding author
Published: 07 January 2004 World Journal of Surgical Oncology 2004, 2:1
Received: 25 August 2003 Accepted: 07 January 2004
This article is available from: http://www.wjso.com/content/2/1/1 © 2004 Behranwala et al; licensee BioMed Central Ltd. This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL.
ampullary cancerneurofibromatosisand gastrointestinal stromal tumourneoplasmneurofibromaneurofibrosarcomatumourgastrointestinal tract
Abstract 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.
Background 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 firstdegree 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 t
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