Gastrointestinal and retroperitoneal manifestations of type 1 neurofibromatosis

Journal of Gastrointestinal Surgery

Volumn 14, Issue 1, 2010, Pages 186-194

  Basile, Ursula ^a   Cavallaro, Giuseppe ^a   Polistena, Andrea ^a   Giustini, Sandra ^a   Orlando, Gennaro ^a   Cotesta, Dario ^a   Petramala, Luigi ^a   Letizia, Claudio ^a   Calvieri, Stefano ^a   de Toma, Giorgio ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

GIST; MPNST; Neurofibromatosis; Von Recklinghausen's disease

Indexed keywords

EID: 72749112392     PISSN: 1091255X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11605-009-0940-5     Document Type: Article

References (62)

1. Huson SM, Compston DAS, Clark P, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in South East Wales. Prevalence, fitness, mutation rate and effect of parental transmission on severity. J Med Genet 1989; 26: 704-711. doi: 10. 1136/jmg. 26. 11. 704.
2. Von Recklinghausen FD. Ueber die Multiple Fibrome der Haut und ihre Beichung zu den Multiplen Neuromen. Berlin, Germany: Hirschwald, 1882.
3. Fallace MR, Marchuk DA, Anderson LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL. Type 1 neurofibromatosis gene: identification of a larger transcript disrupted in three NG1 patients. Science 1990; 249: 181-186. doi: 10. 1126/science. 2134734.
4. Xu GF, O'Connel P, Viskochil D, Cawthon R, Robertson M, Culver M, Dunn D, Stevens J, Gesteland R, White R. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 1990; 62: 599-608. doi: 10. 1016/0092-8674(90)90024-9.
5. Visckochil D, Buchberg AN, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, Carey JC, Copeland NG, Jenkins NA. Deletions and a translocation interrupt a clone gene at the neurofibromatosis type 1 locus. Cell 1990; 62: 1887-1892.
6. Friedma JM, Riccardi VM. Neurofibromatosis: Phenotype, Natural History, and Pathogenesis, 3rd ed. Baltimore, MD: Johns Hopkins University Press, 1999.
7. Ruggeri M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. J Neurol 2001; 56: 1433-1443.
8. National Institutes of Health Consensus Divelopment Conference Statement. Neurofibromatosis. Arch Neurol (Chicago) 1988; 45: 575-578.
9. Gutmann DH, Aylsworth A, Carely JC, Carey JC, Korf B, Pyeritz RE, Rubenstein A, Viskochil D. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997; 278: 51-57. doi: 10. 1001/jama. 278. 1. 51.
10. Huson SM, Harper PS, Compston DAS. Von Recklinghausen neurofibromatosis 1: clinical and population study in South East Wales. Brain 1988; 111: 55-81. doi: 10. 1093/brain/111. 6. 1355.
11. Lubs ML, Bauer MS, Formas ME, Djoic B. Lisch nodules in neurofibromatosis type 1. N Engl J Med 1991; 324: 1264-1266.
12. Tonsgard JH, Kwak SM, Short MP, Dachmann AH. CT imaging in adults with neurofibromatosis 1: frequent asymptomatic plexiform lesions. Neurology 1998; 50: 1755-1760.
13. Listernick R, Louis DN, Packer RJ, Gutmann DH. Optic pathway gliomas in children with neurofibromatosis type 1: consensus statement from theNf1 optic pathway glioma study. Ann Neurol 1997; 41(2): 143-149. doi: 10. 1002/ana. 410410204.
14. Listernick R, Ferner RE, Piersal L, Sharif S, Gutmann DH, Charrow J. Late onset optic pathway tumours in children with neurofibromatosis type1. Neurology 2004; 63: 1944-1946.
15. Crawford AH Jr, Bagamery N. Osseus manifestation of neurofibromatosis in childhood. J Pediatr Orthop 1986; 6: 72-88.
16. Kuoriletho T, Poyhonen M, Bloigu R, Heikkinen J, Vaananen K, Peltonen J. Decreased bone mineral density and content in neurofibromatosis type1: lowest local values are located in the load carrying parts of the body. Osteoporos Int 2005; 16: 928-936. doi: 10. 1007/s00198-004-1801-4.
17. North KN, Riccardi V, Samango Sprouse C, Ferner R, Moore B, Legius E, Ratner N, Denckla MB. Cognitive function and academic performance in neurofibromatosis 1: consensus statement from the Nf1 Cognitive Disorder Task Force. Neurology 1997; 48: 1121-1127.
18. Costa RM, Federov NB, Kogan JH, Murphy GG, Stern J, Ohno M, Kucherlapati R, Jacks T, Silva AJ. Mechanisms for the learning deficits in a mouse model neurofibromatosis 1. Nature 2002; 415: 526-530. doi: 10. 1038/nature711.
19. Di Paolo DP, Zimmerman RA, Rorke LB, Zackai EH, Bilaniuk LT, Yachnis AT. Neurofibromatosis type 1: pathologic substrate of high signal intensity foci in the brain. Radiology 1995; 195: 721-724.
20. Bognano JR, Edwards MK, Lee TA, Dunn DW, Roos KL, Klatte EC. Cranial MR imaging in neurofibromatosis. Am J Radiol 1998; 151: 381-388.
21. Friedman JM, Arbiser J, Epstein JA, Gutmann DH, Huot SJ, Lin AE, McManus B, Korf BR. Cardiovascular disease in neurofibromatosis 1: a report of the NF1 Cardiovascular Task Force. Genet Med 2003; 4: 105-111. doi: 10. 1097/00125817-200205000-00002.
22. Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, van Roy N, Speleman F, Paepee AD. Exhaustive mutation analysis of the Nf1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 2000; 14: 541-555. doi: 10. 1002/1098-1004(200006)15: 6< 541:: AID-HUMU6> 3. 0. CO; 2-N.
23. Tonsgard JH, Yelavarthi KK, Cushner S, Short MP, Lindgren V. Do Nf1 gene deletions result in a characteristic phenotype? Am J Med Genet 1997; 73: 80-86. doi: 10. 1002/(SICI)1096-8628(19971128)73: 1< 80:: AID-AJMG16> 3. 0. CO; 2-N.
24. De Raedt T, Brems H, Wolkenstein P, Vidaud D, Pilotti S, Perrone F, Mautner V, Frahm S, Sciot R, Legius E. Elevated risk for MPNST in Nf1 microdeletions patients. Am J Hum Genet 2003; 72: 1288-1292. doi: 10. 1086/374821.
25. Verlinsky Y, Rechitsky S, Verlinsky O, Chistokhina A, Sharapova T, Masciangelo C, Levy M, Kaplan B, Lederer K, Kuliev A. Preimplantation diagnosis for neurofibromatosis. Reprod Biomed Online 2002; 4: 218-222.
26. Levy AD, Patel N, Dow N, Abbott RM, Miettinem M, Sobin LH. From the archives of the AFIP: abdominal neoplasm in patients with neurofibromatosis type 1: radiologic-pathologic correlation. Radiographics 2005; 25: 455-480. doi: 10. 1148/rg. 252045176.
27. Riccardi VM. Neurofibromatosis: Phenotype, Natural History and Pathogenesis, 2nd ed. Baltimore, MD: Johns Hopkins University Press, 1992.
28. Petersen JM, Ferguson DR. Gastrointestinal neurofibromatosis. J Clin Gastroenterol 1984; 6: 529-534. doi: 10. 1097/00004836-198412000-00008.
29. Miller WB, Boal DK, Teele R. Neurofibromatosis of the bladder: sonographic findings. J Clin Ultrasound 1983; 11: 460-462. doi: 10. 1002/jcu. 1870110813.
30. Scheithauer BW, Woodruff JM, Erlandson RA. Tumours of the Peripheral Nervous System. Washington, DC: Armed Forces Institute of Pathology, 1999.
31. Fukuy T, Lu CC, Mitros FA. CT findings of plexiform neurofibromatosis involving the ileum and its mesentery. Clin Imaging 1994; 18: 142-145. doi: 10. 1016/0899-7071(94)90051-5.
32. Bass JC, Korobkin M, Francio IR, Ellis JH, Cohan RH. Retroperitoneal plexiform neurofibromas: CT findings. AJR Am J Roentgenol 1994; 163: 617-620.
33. Ros PR, Eshaghi N. Plexiform neurofibroma of the pelvis: CT and MRI findings. Magn Reson Imaging 1991; 9: 463-465. doi: 10. 1016/0730-725X(91)90436-P.
34. Bhagarva R, Parham DM, Lasater OE, Chari RS, Chen G, Fletcher BD. MR imaging differentiation of benign and malignant peripheral nerve sheath tumours: use of the target sign. Pediatr Radiol 1997; 27: 124-129. doi: 10. 1007/s002470050082.
35. Mc Laughlin ME, Jacks T. Progesterone receptor expression in neurofibromas. Cancer 2003; 63: 752-755.
36. Packer RJ, Guttmann DH, Rubenstein A, Viskochil D, Zimmermann RA, Vezina G, Small J, Korf B. Plexiform neurofibromas in N1: toward biologic-based therapy. Neurology 2002; 58: 1461-1470.
37. Ferner RE, Gutmann DH. International consensus statement on malignant peripheral nerve sheath tumours in neurofibromatosis 1. Cancer Res 2002; 62: 1573-1577.
38. Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Maoran A. Malignant peripheral nerve sheath tumours in neurofibromatosis1. J Med Genet 2002; 39: 311-314. doi: 10. 1136/jmg. 39. 5. 311.
39. D'Agostino AN, Soule EH, Miller RH. Primary malignant neoplasms of nerves (malignant neurilemomas) in patients without manifestations if multiple neurofibromatosis (von Recklinghausen disease). Cancer 1963; 16: 1003-1014. doi: 10. 1002/1097-0142(196308)16: 8< 1003:: AID-CNCR2820160807> 3. 0. CO; 2-S.
40. Hartley N, Rajesh A, Verma R, Sinha R, Sandrassegaran K. Abdominal manifestations of neurofibromatosis. J Comput Assist Tomogr 2008; 32: 4-8. doi: 10. 1097/rct. 0b013e318054e1ca.
41. Hammond JA, Driedger AA. Detection of malignant change in neurofibromatosis (von Recklinghausen disease) by gallium-67 scanning. Can Med Assoc J 1978; 119: 352-353.
42. Ducatman BS, Sheithauer BW, Piepgras DG, Reiman HM, Ilstrup DM. Malignant peripheral nerve sheath tumours: a clinical pathological study of 120 cases. Cancer 1986; 57: 2006-2021. doi: 10. 1002/1097-0142(19860515)57: 10< 2006:: AID-CNCR2820571022> 3. 0. CO; 2-6.
43. Shekitka KM, Sobin LH. Ganglioneuromas of the gastrointestinal tract: relation to von Recklinghausen disease and other multiple tumour syndromes. Am J Surg Pathol 1994; 18: 250-257. doi: 10. 1097/00000478-199403000-00004.
44. 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: 418-428. doi: 10. 1097/01. rct. 0000160448. 49536. 0f.
45. Burke AP, Federspiel BH, Sabin LH, Shekita KM, Helwig EB. Carcinoids of the duodenum: a histologic and immunohistochemical study of 65 tumors. Am J Surg Pathol 1989; 13: 828-837.
46. Dayal Y, Tallberg KA, Nunmamacher G, De Lellis RA, Wolfew HJ. Duodenal carcinoids in patients with and without neurofibromatosis: a comparative study. Am J Surg Pathol 1986; 10: 348-357. doi: 10. 1097/00000478-198605000-00007.
47. Irvin GL, Fishman LW, Sher JA. Familial pheochromocytoma. Surgery 1983; 94: 938-940.
48. Walther MM, Herring J, Enquist E, Kaiser HR, Linhean WM. Von Recklinghausen disease and pheochromocytomas. J Urol 1999; 162: 1582-1586. doi: 10. 1016/S0022-5347(05)68171-2.
49. Chetty R, Duhig JD. Bilateral pheochromocytoma-ganglioneuroma of the adrenal in type 1 neurofibromatosis. Am J Surg Pathol 1993; 17: 837-841. doi: 10. 1097/00000478-199308000-00009.
50. Teramoto S, Ota T, Maniwa A, Matsui T, Itaya N, Aoyagi K, Kusangi H, Narita M. Two von Recklinghausen disease cases with pheochromocytomas and gastrointestinal stromal tumours (GIST) in combination. Int J Urol 2007; 14: 73-74. doi: 10. 1111/j. 1442-2042. 2006. 01601. x.
51. Miettinen M, Kopczynski J, Makhulouf HR, Sarlomo-Rikala M, Gyorffy H, Burke A, Sobin LH, Lasota J. Gastrointestinal stromal tumours, intramural leiomyomas and leiomyosarcomas in the duodenum: a clinicopathologic, immunohistochemical, and molecular genetic study of 167 cases. Am J Surg Pathol 2003; 27: 625-641. doi: 10. 1097/00000478-200305000-00006.
52. Ghrist TD. Gastrointestinal involvement in neurofibromatosis. Arch Intern Med 1963; 112: 357-362.
53. Boldorini R, Tosoni A, Leutner M, Ribaldone R, Surico N, Cornello E, Min KW. Multiple small intestinal stromal tumours in a patient with previously unrecognised neurofbromatosis type 1: immunohistochemical and ultrastructural evaluation. Pathology 2001; 33: 390-395. doi: 10. 1080/00313020120063054.
54. 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: 80-85. doi: 10. 1002/path. 1487.
55. Heinrich MC, Corless CL, Duensing A, Mc Greevey L, Chen CJ, Joseph N, Singer S, Griffith DJ, Haley A, Town A, Demetri GD, Fletcher CD, Fletcher JA. PDGFRA activating mutations in gastrointestinal stromal tumors. Science 2003; 299: 278. doi: 10. 1126/science. 1079666.
56. Stewart DR, Coreless 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: 61. doi: 10. 1136/jmg. 2006. 043075.
57. Kramer K, Hasel C, Aschoff JA, Brunes HD, Wuerl P. Multiple gastrointestinal stromal tumours and bilateral pheochromocytoma in neurofibromatosis. World J Gastroenterol 2007; 13: 3384-3387.
58. Levy AD, Patel N, Abbott RM, Dow N, Miettinem M, Sobin LH. Gastrointestinal stromal tumours in patients with neurofibromatosis: imaging features with clinicopathologic correlation. AJR Am J Roentgenol 2004; 183: 1629-1635.
59. Mietttinem M, Fetsch JF, Sobin LH, Lasota J. Gastrointestinal stromal tumours in patients with neurofibromatosis 1. A clinicopathological and molecular genetic study of 45 cases. Am J Surg Pathol 2006; 30: 90-96. doi: 10. 1097/01. pas. 0000176433. 81079. bd.
60. Kalender ME, Seviniv A, Tutar E, Sirikci A, Camici C. Effect of sunitinib on metastatic gastrointestinal stromal tumour in patients with neurofibromatosis type 1: a case report. World J Gastroenterol 2007; 13: 2629-2632.
61. Hayflick SJ, Hofmann KJ, Tunnesen WW, Levienthal BG, Dudgeon DL. Neurofibromatosis 1: recognition and management of associated neuroblastoma. Pediatr Dermatol 1990; 7: 293-295. doi: 10. 1111/j. 1525-1470. 1990. tb01028. x.
62. Costi R, Caruana P, Sarli L, Violi V, Roncoroni R, Bordi C. Ampullary adenocarcinoma in neurofibromatosis type 1: case reported in literature review. Mod Pathol 2001; 14: 1169-1174. doi: 10. 1038/modpathol. 3880454.