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

World Journal of Surgical Oncology

Jeremy N Thompson¹  Cyril Fisher²  Andrew Wotherspoon²  Duncan Spalding¹  Kasim A Behranwala¹ 

[1] Gastrointestinal Surgery Unit, Royal Marsden NHS Trust, 203 Fulham Road, London SW3 6JJ, UK;Department of Pathology, Royal Marsden NHS Trust, 203 Fulham Road, London SW3 6JJ, UK

关键词: gastrointestinal tract;    tumour;    neurofibrosarcoma;    neurofibroma;    neoplasm;    and gastrointestinal stromal tumour;    neurofibromatosis;    ampullary cancer;   

Others  :  1207490
DOI  :  10.1186/1477-7819-2-1

 received in 2003-08-25, accepted in 2004-01-07,  发布年份 2004

【 摘 要 】

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.

【 授权许可】

   
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.

【 图 表 】

Figure 1.

Figure 2.

【 参考文献 】

• [1]Riccardi VM: Von Recklinghausen neurofibromatosis. N Engl J Med 1981, 305:1617-1627.
• [2]Martin GA, Viskochil D, Bollag G, McCabe PC, Crosier WJ, Haubruck H, Conroy L, Clark R, O'Connell P, Cawthon RM: The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell 1990, 63:843-890.
• [3]Fuller CE, Williams GT: Gastrointestinal manifestations of type 1 neurofibromatosis (von Recklinghausen's disease). Histopathology 1991, 19:1-11.
• [4]Boldorini R, Tosoni A, Leutner M, Ribaldone R, Surico N, Comello E, Min KW: Multiple small intestinal stromal tumours in a patient with previously unrecognised neurofibromatosis type 1: immunohistochemical and ultrastructural evaluation. Pathology 2001, 33:390-395.
• [5]Sircar K, Hewlett BR, Huizinga JD, Chorneyko K, Berezin I, Riddell RH: Interstitial cells of Cajal as precursors of gastrointestinal stromal tumours. Am J Surg Pathol 1999, 23:377-389.
• [6]Hirota S, Koji I, Moriyama Y, Hashimoto K: Gain of function mutations of c-kit in human gastrointestinal stromal tumors. Science 1998, 279:577-580.
• [7]Karatzas G, Kouraklis G, Karayiannakis A, Patapis P, Givalos N, Kaperonis E: Ampullary carcinoid and jejunal stromal tumour associated with von Recklinghausen's disease presenting as gastrointestinal bleeding and jaundice. Eur J Surg Oncol 2000, 26:428-429.
• [8]Miettinen M, Lasota J: Gastrointestinal stromal tumours (GISTs): definition, occurrence, pathology, differential diagnosis and molecular genetics. Pol J Pathol 2003, 54:3-24.
• [9]Min KW: Small intestinal stromal tumours with skeinoid fibres: clinicopathologic, immunohistochemical, and ultrastructural investigations. Am J Surg Pathol 1992, 16:145-155.
• [10]Adani GL, Marcello D, Sanna A, Mazzetti J, Anania G, Donini A: Gastrointestinal stromal tumours: evaluation of biological and clinical current opinions. Chir Ital 2002, 54:127-131.
• [11]Fletcher CD, Berman JJ, Corless C, Gorstein F, Lasota J, Longley BJ, Miettinen M, O'Leary TJ, Remotti H, Rubin BP, Shmookler B, Sobin LH, Weiss SW: Diagnosis of gastrointestinal stromal tumours: a consensus approach. Int J Surg Pathol 2002, 10:81-89.
• [12]Sapi Z, Kovacs RB, Bodo M: Gastrointestinal stromal tumours. Observations on the basis of 29 cases. Orv Hetil [Hungarian] 2001, 142:2479-2485.
• [13]Miettinen M, Lasota J: Gastrointestinal stromal tumours – definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows Arch 2001, 438:1-12.
• [14]Niv Y, Abu-Avid S, Oren M: Adenocarcinoma of pancreas and duodenum associated with cutaneous neurofibromatosis. Am J Med 1987, 82:384-385.
• [15]Miettinen M, Majidi M, Lasota J: Pathology and diagnostic criteria of gastrointestinal stromal tumours (GISTs): a review. Eur J Cancer 2002, 38(Suppl 5):S39-S51.