Periampullary and duodenal neoplasms in neurofibromatosis type 1: Two cases and an updated 20-year review of the literature yielding 76 cases

Journal of Gastrointestinal Surgery

Volumn 14, Issue 6, 2010, Pages 1052-1061

  Relles, Daniel ^a   Baek, Jennie ^a   Witkiewicz, Agnieszka ^a   Yeo, Charles J ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Carcinoid; Gastrointestinal stromal tumor; Neurofibromatosis; Periampullary neoplasm; Somatostatinoma

Indexed keywords

ADULT; ARTICLE; BILE DUCT TUMOR; CASE REPORT; DUODENUM TUMOR; FEMALE; HUMAN; MALE; MIDDLE AGED; NEUROFIBROMATOSIS; VATER PAPILLA;

ADULT; AMPULLA OF VATER; COMMON BILE DUCT NEOPLASMS; DUODENAL NEOPLASMS; FEMALE; HUMANS; MALE; MIDDLE AGED; NEUROFIBROMATOSIS 1;

EID: 77952488577     PISSN: 1091255X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11605-009-1123-0     Document Type: Article

References (76)

1. Klein A, Clemens J, Cameron J. Periampullary neoplasms in von Recklinghausen's disease. Surgery 1989; 106(5): 815-819.
2. Giuly JA, Picand R, Giuly D, Monges B, Nguyen-Cat R. Von Recklinghausen disease and gastrointestinal stromal tumors. Am J Surg 2003; 185(1): 86-87.
3. Pinsk I, Dukhno O, Ovnat A, Levy I. Gastrointestinal complications of von Recklinghausen's disease: two case reports and a review of the literature. Scand J Gastroenterol 2003; 38(12): 1275-1278.
4. Cheng SP, Huang MJ, Yang TL, Tzen CY, Liu CL, Liu TP, Hsiao SC. Neurofibromatosis with gastrointestinal stromal tumors: insights into the association. Dig Dis Sci 2004; 49(7-8): 1165-1169.
5. Seymour-Dempsey K, Andrassy RJ. Neurofibromatosis: implications for the general surgeon. J Am Coll Surg 2002; 195(4): 553-563.
6. Fuller CE, Williams GT. Gastrointestinal manifestations of type 1 neurofibromatosis (von Recklinghausen's disease). Histopathology 1991; 19(1): 1-11.
7. Miettinen M, Fetsch JF, Sobin LH, Lasota J. Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases. Am J Surg Pathol 2006; 30(1): 90-96.
8. Teramoto S, Ota T, Maniwa A, Matsui T, Itaya N, Aoyagi K, Kusanagi H, Narita M. Two von Recklinghausen's disease cases with pheochromocytomas and gastrointestinal stromal tumors (GIST) in combination. Int J Urol 2007; 14(1): 73-74.
9. Zöller ME, Rembeck B, Odén A, Samuelsson M, Angervall L. Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population. Cancer 1997; 79(11): 2125-2131.
10. Kang DY, Park CK, Choi JS, Jin SY, Kim HJ, Joo M, Kang MS, Moon WS, Yun KJ, Yu ES, Kang H, Kim KM. Multiple gastrointestinal stromal tumors: clinicopathologic and genetic analysis of 12 patients. Am J Surg Pathol 2007; 31(2): 224-232.
11. Kinoshita K, Hirota S, Isozaki K, Ohashi A, Nishida T, Kitamura Y, Shinomura Y, Matsuzawa Y. Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibromatosis type 1 patients. J Pathol 2004; 202(1): 80-85.
12. Nemoto H, Tate G, Schirinzi A, Suzuki T, Sasaya S, Yoshizawa Y, Midorikawa T, Mitsuya T, Dallapiccola B, Sanada Y. Novel NF1 gene mutation in a Japanese patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor. J Gastroenterol 2006; 41(4): 378-382.
13. Stewart DR, Corless CL, Rubin BP, Heinrich MC, Messiaen LM, Kessler LJ, Zhang PJ, Brooks DG. Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1. J Med Genet 2007; 44(1): e61.
14. Andersson J, Sihto H, Meis-Kindblom JM, Joensuu H, Nupponen N, Kindblom LG. NF1-associated gastrointestinal stromal tumors have unique clinical, phenotypic, and genotypic characteristics. Am J Surg Pathol 2005; 29(9): 1170-1176.
15. Takazawa Y, Sakurai S, Sakuma Y, Ikeda T, Yamaguchi J, Hashizume Y, Yokoyama S, Motegi A, Fukayama M. Gastrointestinal stromal tumors of neurofibromatosis type I (von Recklinghausen's disease). Am J Surg Pathol 2005; 29(6): 755-763.
16. Maertens O, Prenen H, Debiec-Rychter M, Wozniak A, Sciot R, Pauwels P, De Wever I, Vermeesch JR, de Raedt T, De Paepe A, Speleman F, van Oosterom A, Messiaen L, Legius E. Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. Hum Mol Genet 2006; 15(6): 1015-1023.
17. Kalender ME, Sevinc A, Tutar E, Sirikci A, Camci C. Effect of sunitinib on metastatic gastrointestinal stromal tumor in patients with neurofibromatosis type 1: a case report. World J Gastroenterol 2007; 13(18): 2629-2632.
18. Ricci JL. Carcinoid of the ampulla of Vater. Local resection or pancreaticoduodenectomy. Cancer 1993; 71(3): 686-690.
19. Costi R, Caruana P, Sarli L, Violi V, Roncoroni L, Bordi C. Ampullary adenocarcinoma in neurofibromatosis type 1. Case report and literature review. Mod Pathol 2001; 14(11): 1169-1174.
20. Scully R. Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 15-1989. A 52-year-old man with neurofibromatosis and jaundice. N Engl J Med 1989; 320(15): 996-1004.
21. Hatzitheoklitos E, Büchler MW, Friess H, Poch B, Ebert M, Mohr W, Imaizumi T, Beger HG. Carcinoid of the ampulla of Vater. Clinical characteristics and morphologic features. Cancer 1994; 73(6): 1580-1588.
22. Rämö OJ, Ristkari SK, Miettinen M, Järvi K, Mokka RE. Duodenal carcinoid tumour with psammoma bodies: a rare cause of haematemesis. Eur J Surg 1997; 163(3): 227-230.
23. Cantor AM, Rigby CC, Beck PR, Mangion D. Neurofibromatosis, phaeochromocytoma, and somatostatinoma. Br Med J (Clin Res Ed) 1982; 285(6355): 1618-1619.
24. Usui M, Matsuda S, Suzuki H, Hirata K, Ogura Y, Shiraishi T. Somatostatinoma of the papilla of Vater with multiple gastrointestinal stromal tumors in a patient with von Recklinghausen's disease. J Gastroenterol 2002; 37(11): 947-953.
25. Kainuma O, Ito Y, Taniguchi T, Shimizu T, Nakada H, Date Y, Hara T. Ampullary somatostatinoma in a patient with von Recklinghausen's disease. J Gastroenterol 1996; 31(3): 460-464.
26. Tan CC, Hall RI, Semeraro D, Irons RP, Freeman JG. Ampullary somatostatinoma associated with von Recklinghausen's neurofibromatosis presenting as obstructive jaundice. Eur J Surg Oncol 1996; 22(3): 298-301.
27. Tanaka S, Yamasaki S, Matsushita H, Ozawa Y, Kurosaki A, Takeuchi K, Hoshihara Y, Doi T, Watanabe G, Kawaminami K. Duodenal somatostatinoma: a case report and review of 31 cases with special reference to the relationship between tumor size and metastasis. Pathol Int 2000; 50(2): 146-152.
28. Hartel M, Wente MN, Sido B, Friess H, Büchler MW. Carcinoid of the ampulla of Vater. J Gastroenterol Hepatol 2005; 20(5): 676-681.
29. Mao C, Shah A, Hanson DJ, Howard JM. Von Recklinghausen's disease associated with duodenal somatostatinoma: contrast of duodenal versus pancreatic somatostatinomas. J Surg Oncol 1995; 59(1): 67-73.
30. O'Brien TD, Chejfec G, Prinz RA. Clinical features of duodenal somatostatinomas. Surgery 1993; 114(6): 1144-1147.
31. Mayoral W, Salcedo J, Al-Kawas F. Ampullary carcinoid tumor presenting as acute pancreatitis in a patient with von Recklinghausen's disease: case report and review of the literature. Endoscopy 2003; 35(10): 854-857.
32. Cappelli C, Agosti B, Braga M, Cumetti D, Gandossi E, Rizzoni D, Agabiti Rosei E. Von Recklinghausen's neurofibromatosis associated with duodenal somatostatinoma. A case report and review of the literature. Minerva Endocrinol 2004; 29(1): 19-24.
33. Miettinen M, Kopczynski J, Makhlouf HR, Sarlomo-Rikala M, Gyorffy H, Burke A, Sobin LH, Lasota J. Gastrointestinal stromal tumors, intramural leiomyomas, and leiomyosarcomas in the duodenum: a clinicopathologic, immunohistochemical, and molecular genetic study of 167 cases. Am J Surg Pathol 2003; 27(5): 625-641.
34. Miettinen M, Lasota J. Gastrointestinal stromal tumors (GISTs): definition, occurrence, pathology, differential diagnosis and molecular genetics. Pol J Pathol 2003; 54(1): 3-24.
35. Min KW, Balaton AJ. Small intestinal stromal tumors with skeinoid fibers in neurofibromatosis: report of four cases with ultrastructural study of skeinoid fibers from paraffin blocks. Ultrastruct Pathol 1993; 17(3-4): 307-314.
36. Ishida T, Wada I, Horiuchi H, Oka T, Machinami R. Multiple small intestinal stromal tumors with skeinoid fibers in association with neurofibromatosis 1 (von Recklinghausen's disease). Pathol Int 1996; 46(9): 689-695.
37. Trupiano JK, Stewart RE, Misick C, Appelman HD, Goldblum JR. Gastric stromal tumors: a clinicopathologic study of 77 cases with correlation of features with nonaggressive and aggressive clinical behaviors. Am J Surg Pathol 2002; 26(6): 705-714.
38. Nikfarjam M, McLean C, Muralidharan V, Christophi C. Neuroendocrine tumours of the ampulla of Vater. ANZ J Surg 2002; 72(7): 531-533.
39. Lee JL, Kim JY, Ryu MH, Kang HJ, Chang HM, Kim TW, Lee H, Park JH, Kim HC, Kim JS, Kang YK. Response to imatinib in KIT- and PDGFRA-wild type gastrointestinal stromal associated with neurofibromatosis type 1. Dig Dis Sci 2006; 51(6): 1043-1046.
40. Clements WM, Martin SP, Stemmerman G, Lowy AM. Ampullary carcinoid tumors: rationale for an aggressive surgical approach. J Gastrointest Surg 2003; 7(6): 773-776.
41. House MG, Yeo CJ, Schulick RD. Periampullary pancreatic somatostatinoma. Ann Surg Oncol 2002; 9(9): 869-874.
42. Bakker JR, Haber MM, Garcia FU. Gastrointestinal neurofibromatosis: an unusual cause of gastric outlet obstruction. Am Surg 2005; 71(2): 100-105.
43. Behranwala KA, Spalding D, Wotherspoon A, Fisher C, Thompson JN. Small bowel gastrointestinal stromal tumours and ampullary cancer in type 1 neurofibromatosis. World J Surg Oncol 2004; 2: 1.
44. Bettini R, Falconi M, Crippa S, Capelli P, Boninsegna L, Pederzoli P. Ampullary somatostatinomas and jejunal gastrointestinal stromal tumor in a patient with Von Recklinghausen's disease. World J Gastroenterol 2007; 13(19): 2761-2763.
45. Borobia FG, Fabregat J, Jorba R, Poves I, Biondo S, Serrano T, Figueras J, Jaurrieta E. Exocrine pancreatic insufficiency caused by a somatostatinoma of the minor and major duodenal papilla in a patient with neurofibromatosis. Eur J Surg 2001; 167(2): 154-156.
46. Burke AP, Sobin LH, Shekitka KM, Federspiel BH, Helwig EB. Somatostatin-producing duodenal carcinoids in patients with von Recklinghausen's neurofibromatosis. A predilection for black patients. Cancer 1990; 65(7): 1591-1595.
47. Castoldi L, De Rai P, Marini A, Ferrero S, De Luca VM, Tiberio G. Neurofibromatosis-1 and ampullary gangliocytic paraganglioma causing biliary and pancreatic obstruction. Int J Pancreatol 2001; 29(2): 93-97.
48. Ching CK, Greer AJ. Metachronous biliary tract cancers in a patient with von Recklinghausen's disease. Am J Gastroenterol 1993; 88(7): 1124-1125.
49. Colarian J, Pietruk T, LaFave L, Calzada R. Adenocarcinoma of the ampulla of Vater associated with neurofibromatosis. J Clin Gastroenterol 1990; 12(1): 118-119.
50. Coombs RJ. Case of the season. Malignant neurogenic tumor of duodenum and pancreas. Semin Roentgenol 1990; 25(2): 127-129.
51. Farr CM, Price HM, Bezmalinovic Z. Duodenal somatostatinoma with congenital pseudoarthrosis. J Clin Gastroenterol 1991; 13(2): 195-197.
52. Fendrich V, Ramaswamy A, Slater EP, Bartsch DK. Duodenal somatostatinoma associated with Von Recklinghausen's disease. J Hepatobiliary Pancreat Surg 2004; 11(6): 417-421.
53. Fujisawa T, Osuga T, Maeda M, Sakamoto N, Maeda T, Sakaguchi K, Onishi Y, Toyoda M, Maeda H, Miyamoto K, Kawaraya N, Kusumoto C, Nishigami T. Malignant endocrine tumor of the pancreas associated with von Recklinghausen's disease. J Gastroenterol 2002; 37(1): 59-67.
54. Fung JW, Lam KS. Neurofibromatosis and insulinoma. Postgrad Med J 1995; 71(838): 485-486.
55. Gallinger S, Aronson M, Shayan K, Ratcliffe EM, Gerstle JT, Parkin PC, Rothenmund H, Croitoru M, Baumann E, Durie PR, Weksberg R, Pollett A, Riddell RH, Ngan BY, Cutz E, Lagarde AE, Chan HS. Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germ line homozygous MLH1 mutation. Gastroenterology 2004; 126(2): 576-585.
56. Green BT, Rockey DC. Duodenal somatostatinoma presenting with complete somatostatinoma syndrome. J Clin Gastroenterol 2001; 33(5): 415-417.
57. Hagen EC, Houben GM, Nikkels RE, Jansen JB, Lamers CB, Gooszen HG, van Duinen SG, Meinders AE. Exocrine pancreatic insufficiency and pancreatic fibrosis due to duodenal somatostatinoma in a patient with neurofibromatosis. Pancreas 1992; 7(1): 98-104.
58. Hendi JM, Horton KM, Fishman EK. Somatostatinoma of the ampulla and appendical carcinoid in a patient with von Recklinghausen disease. J Comput Assist Tomogr 2005; 29(3): 418-419.
59. Hünerbein M, Dohmoto M, Haensch W, Schlag PM. Biliary obstruction caused by a multifocal duodenal neurosarcoma in a patient with von Recklinghausen's disease. Endoscopy 1996; 28(4): 405-406.
60. Joo YE, Kim HS, Choi SK, Rew JS, Park CS, Kim SJ. Primary duodenal adenocarcinoma associated with neurofibromatosis type 1. J Gastroenterol 2002; 37(3): 215-219.
61. Juergens KU, Weckesser M, Bettendorf O, Wormanns D. Duodenal somatostatinoma and gastrointestinal stromal tumor associated with neurofibromatosis type 1: diagnosis with PET/CT. AJR Am J Roentgenol 2006; 187(2): W233-W234.
62. 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(4): 428-429.
63. Leung VK, Lee SW, Yuen NW, Kung NN, Loke TK. Epigastric pain in a patient with neurofibromatosis type 1. Hong Kong Med J 2005; 11(3): 213-215.
64. Martin FM, Rossi RL, Dorrucci V, Silverman ML, Braasch JW. Clinical and pathologic correlations in patients with periampullary tumors. Arch Surg 1990; 125(6): 723-726.
65. Mendes-Ribeiro HK, Woodham C. CT demonstration of an unusual cause of biliary obstruction in a patient with peripheral neurofibromatosis. Clin Radiol 2000; 55(10): 796-798.
66. O'Hanlon DM, Fenlon HM, McEntee GP. Gangliocytic paraganglioma of the duodenum. J Am Coll Surg 2001; 192(6): 794.
67. Ohtsuki Y, Sonobe H, Mizobuchi T, Takahashi K, Hayashi K, Iwata J, Tahara E. Duodenal carcinoid (somatostatinoma) combined with von Recklinghausen's disease. A case report and review of the literature. Acta Pathol Jpn 1989; 39(2): 141-146.
68. Samonakis DN, Quaglia A, Joshi NM, Tibballs JM, Nagree A, Triantos CK, Davies N, Standish R, Dhillon AP, Davidson BR, Burroughs AK, Caplin ME. Obstructive jaundice secondary to neuroendocrine tumour in a patient with von Recklinghausen's disease. Eur J Gastroenterol Hepatol 2005; 17(11): 1229-1232.
69. Sakorafas GH, Giannopoulos GA, Parasi A, Konstantoudakis G, Tzanakis N, Stergiopoulos S, Peros G. Large somatostatin-producing endocrine carcinoma of the ampulla of Vater in association with GIST in a patient with von Recklinghausen's disease. Case report and review of the literature. JOP 2008; 9(5): 633-639.
70. South CD, Baird MA, Marsh WL Jr. Clinical challenges and images in GI Ampullary somatostatinoma associated with neurofibromatosis type 1, presenting with iron-deficiency anemia. Gastroenterology 2009; 136(1): 51, 368.
71. Suzuki S, Sato K, Katada E, Kuno Y, Mizoguchi N, Tokuda H, Inaguma S, Asamoto M, Dohi Y. Periampullary somatostatinoma and multiple gastrointestinal stromal tumors associated with von Recklinghausen's disease. J Gastroenterol 2004; 39(10): 1011-1012.
72. Thornton MR, Campbell F, Garvey CJ, Hershman MJ. Abdominal neurofibromatosis. J R Soc Med 1999; 92(11): 587-589.
73. Walsh MM, Brandspigel K. Gastrointestinal bleeding due to pancreatic schwannoma complicating von Recklinghausen's disease. Gastroenterology 1989; 97(6): 1550-1551.
74. Winfield RD, Hochwald SN, Vogel SB, Hemming AW, Liu C, Cance WG, Grobmyer SR. Presentation and management of gastrointestinal stromal tumors of the duodenum. Am Surg 2006; 72(8): 719-722, discussion 722-723.
75. Yantiss RK, Rosenberg AE, Sarran L, Besmer P, Antonescu CR. Multiple gastrointestinal stromal tumors in type I neurofibromatosis: a pathologic and molecular study. Mod Pathol 2005; 18(4): 475-484.
76. Yoshida A, Hatanaka S, Ohi Y, Umekita Y, Yoshida H. von Recklinghausen's disease associated with somatostatin-rich duodenal carcinoid (somatostatinoma), medullary thyroid carcinoma and diffuse adrenal medullary hyperplasia. Acta Pathol Jpn 1991; 41(11): 847-856.