Neurofibromatosis: Implications for the general surgeon

Journal of the American College of Surgeons

Volumn 195, Issue 4, 2002, Pages 553-563

  Seymour Dempsey, Kelly ^a,b   Andrassy, Richard J ^a,b  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANEURYSM; CARDIOVASCULAR MALFORMATION; CLINICAL FEATURE; CLINICAL TRIAL; DIAGNOSTIC PROCEDURE; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE COURSE; ENDOCRINE TUMOR; GASTROINTESTINAL TRACT; GASTROINTESTINAL TUMOR; GENERAL SURGERY; GLIOMA; HUMAN; HYPERPLASIA; HYPERTENSION; INCIDENCE; KIDNEY ARTERY STENOSIS; LAPAROSCOPY; MEDICAL LITERATURE; MENINGIOMA; MORBIDITY; MUTATION; NEOPLASM; NERVE PARALYSIS; NEURILEMOMA; NEUROFIBROMA; NEUROFIBROMATOSIS; PERIPHERAL NERVE TUMOR; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; REVIEW; SURGEON; SURGICAL TECHNIQUE; TREATMENT PLANNING; VASCULAR DISEASE;

EID: 0036791968     PISSN: 10727515     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1072-7515(02)01252-8     Document Type: Article

References (109)

1. Friedman JM, Gutmann DH, MacCollin M, Riccardi VM, eds. Neurofibromatosis: phenotype, natural history and pathogensis. 3rd ed. Baltimore, MD: Johns Hopkins University Press; 1999.
2. Barker D, Wright E, Nguyen L, et al. Gene for von Recklinghausen neurofibromatosis is in the poly centromeric region of chromosome 17. Science 1987;236:1100-1102.
3. Seizinger BR, Rouleau GA, Ozelius LJ, et al. Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell 1987;49:589-594.
4. Crump T. [Translation of case reports in Uber die multiplen fibrome der haut und ihre beziehung zu multiplen neuromen by FV Recklinghausen] Adv Neurol 1981;29:259-275.
5. Rouleau GA, Wertelecki W, Haines JL, et al. Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 1987;329:246-248.
6. Riccardi VM. Von Recklinghausen neurofibromatosis. N Engl J Med 1981;305:1617-1627.
7. National Institutes of Health Conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis): an update. Ann Intern Med 1990;113:39-52.
8. Zoller M, Rembeck B, Akesson HO, Angervall L. Life expectancy, mortality, and prognostic factors in neurofibromatosis type 1: a twelve year follow-up of epidemiological study in Göteborg, Sweden. Acta Derm Venereol (Stockh) 1995;75:136-140.
9. Neville HL, Seymour-Dempsey K, Slopis J, et al. The role of surgery in children with neurofibromatosis. J Pediatr Surg 2001;36:25-29.
10. Willcox TO, Rosenberg SI, Handler SD. Laryngeal involvement in neurofibromatosis. Ear Nose Throat J 1993;72:811-815.
11. Weber AL, Montandon C, Robson CD. Neurogenic tumors of the neck. Radiol Clin North Am 2000;38:1077-1090.
12. Holt GR. Von Recklinghausen's neurofibromatosis. Otolaryngol Clin North Am 1987;20:179-193.
13. Chung CJ, Armfield KB, Mukherji SK, et al. Cervical neurofibromas in children with NF-1. Pediatr Radiol 1999;29:353-356.
14. Gutmann DH, Aylsworth A, Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997;278:51-57.
15. Curless RG, Siatkowski M, Glaser JS, Shantz N. MRI diagnosis of NF1 in children without café-au-lait lesions. Pediatr Neurol 1998;18:269-271.
16. Ghrist TD. Gastrointestinal involvement in neurofibromatosis. Arch Int Med 1963;112:357-362.
17. Hochberg FH, Bastita DA, Galdabini J, Richardson EP. Gastrointestinal involvement in von Recklinghausen's neurofibromatosis. Neurology 1974;24:1144-1151.
18. Davis GS, Berk RN. Intestinal neurofibromas in von Recklinghausen's disease. Am J Gastroenterol 1973;60:410-415.
19. Hudson SM, Harper PS, Compston DAS. Von Recklinghausen neurofibromatosis: a clinical and population study in south-east Wales. Brain 1988;111:1355-1381.
20. Lipton S, Zuckerbrod M. Familial enteric neurofibromatosis. Med Times 1966;94:544-548.
21. Heimann R, Verhest A, Verschragen J, et al. Hereditary intestinal neurofibromatosis 1. A distinctive genetic disease. Neurofibromatosis 1988;1:26-32.
22. Fuller CE, Williams GT. Gastrointestinal manifestation of type 1 neurofibromatosis (von Recklinghausen's disease). Histopathology 1991;19:1-11.
23. Staple TW, McAlister WH, Anderson MS. Plexiform neurofibromatosis of the colon simulating Hirschsprung's disease. Am J Roentgenol 1964;91:840-845.
24. Saul RA, Sturner RA, Burger PC. Hyperplasia of the myenteric plexus: its association with early infantile megacolon and neurofibromatosis. Am J Dis Child 1982;136:852-854.
25. Phat VN, Sezeur A, Danne M, et al. Primary myenteric plexus alterations as a cause of megacolon in von Recklinghausen's disease. Pathol Biol 1980;28:585-588.
26. Feinstat T, Tesluk H, Schuffler MD. Megacolon and neurofibromatosis: a neuronal intestinal dysplasia. Case report and review of the literature. Gastroenterology 1984;86:1573-1579.
27. Melin MM, Grotz RL, Nivatvongs S. Gastrointestinal hemorrhage complicating systemic neurofibromatosis. Am J Gastroenterol 1994;89:1888-1890.
28. Chu MH, Lee HC, Shen EY, et al. Gastro-intestinal bleeding caused by leiomyoma of the small intestine in a child with neurofibromatosis. Eur J Pediatr 1999;158:460-462.
29. Cox JG, Royston CM, Sutton DR. Multiple smooth muscle tumors in neurofibromatosis presenting with chronic gastrointestinal bleeding. Postgrad Med J 1988;64:149-151.
30. Bernardis V, Sorrentino D, Snidero D, et al. Intestinal leiomyosarcoma and gastroparesis associated with von Recklinghausen's disease. Digestion 1999;60:82-85.
31. Kim HR, Kim YJ. Neurofibromatosis of the colon and rectum combined with other manifestations of von Recklinghausen's disease: report of a case. Dis Colon Rectum 1998;41:1187-1192.
32. Croker JR, Greenstein RJ. Malignant schwannoma of the stomach in a patient with von Recklinghausen's disease. Histopathology 1979;3:79-85.
33. Gennatas CS, Exarhakos G, Kondi-Pafiti A, et al. Malignant schwannoma of the stomach in a patient with neurofibromatosis. Eur J Surg Oncol 1988;14:261-264.
34. Bruke AP, Sobin LH, Shekitka KM, et al. Somatostatin-producing duodenal carcinoids in patients with von Recklinghausen's neurofibromatosis. A predilection for black patients. Cancer 1990;65:1591-1595.
35. Wheeler MH, Curley IR, Williams ED. The association of neurofibromatosis, pheochromocytoma, and somatostatinrich duodenal carcinoid tumor. Surgery 1986;100:1163-1169.
36. Swinburn BA, Yeong ML, Lane MR, et al. Neurofibromatosis associated with somatostatinoma: a report of two patients. Clin Endocrinol 1988;28:353-359.
37. Dawson BV, Kazama R, Paplanus SH. Association of carcinoid with neurofibromatosis. South Med J 1984;77:511-513.
38. Tilford DL, Kelsch RC. Renal artery stenosis in childhood neurofibromatosis. Am J Dis Child 1973;126:665-668.
39. Rowen M, Dorsey TJ, Kegel SM, Ostermiller WE. Thoracic coarctation associated with neurofibromatosis. Am J Dis Child 1975;129:113-115.
40. Schurch W, Messerli FH, Genest J, et al. Arterial hypertension and neurofibromatosis: renal artery stenosis and coarctation of abdominal aorta. Can Med Assoc J 1975;113:879-885.
41. Donaldson MC, Ellison LH, Ramsby GR. Hypertension from isolated thoracic aortic coarctation associated with neurofibromatosis. J Pediatr Surg 1985;20:169-171.
42. Fossali E, Signorini E, Intermite RC, et al. Renovascular disease and hypertension in children with neurofibromatosis. Pediatr Nephrol 2000;14:806-810.
43. Kurien A, John PR, Milford DV. Hypertension secondary to progressive vascular neurofibromatosis. Arch Dis Child 1997; 76:454-455.
44. Khan MS, Moore JW. Treatment of abdominal aortic pseudoaneurysm with covered stents in a pediatric patient. Cathet Cardiovasc Interv 2000;50:445-448.
45. Reubi F. Neurofibromatose et lesions vasculaires. Schweiz Med Wochenschr 1945;75:463-465.
46. Salyer WR, Salyer DC. The vascular lesions of neurofibromatosis. Angiology 1974;25:510-519.
47. Greene JF, Fitzwater JE, Burgess J. Arterial lesions associated with neurofibromatosis. Am J Clin Pathol 1974;62:481-487.
48. Pentecost M, Stanley P, Takahashi M, Isaacs H Jr. Aneurysms of the aorta and subclavian and vertebral arteries in neurofibromatosis. Am J Dis Child 1981;135:475-477.
49. Huffman JL, Gahtan V, Bowers VD, Mills JL. Neurofibromatosis and arterial aneurysms. Am Surg 1996;62:311-314.
50. Tins B, Greaves M, Bowling T. Neurofibromatosis associated with a coronary artery aneurysm. Br J Radiol 2000;73:1219-1220.
51. Smith BL, Munschauer CE, Diamond N, Rivera F. Ruptured internal carotid aneurysm resulting from neurofibromatosis: treatment with intraluminal stent graft. J Vasc Surg 2000;32:824-828.
52. Ilgit ET, Vural M, Oguz A, Ozdogan ME. Peripheral arterial involvement in neurofibromatosis type 1 - a case report. Angiology 1999;50:955-958.
53. Zachos M, Parkin PC, Babyn PS, Chait P. Neurofibromatosis type 1 vasculopathy associated with lower limb hypoplasia. Pediatrics 1997;100:395-398.
54. Grey AC, Vallelly SR. Spontaneous false aneurysm of the radial artery in neurofibromatosis. Clin Radiol 1999;54:185-186.
55. Lin YC, Chen HC. Rare complication of massive hemorrhage in neurofibromatosis with arteriovenous malformation. Ann Plast Surg 2000;44:221-224.
56. Littlewood AH, Stilwell JH. The vascular features of plexiform neurofibroma with some observations on the importance of pre-operative angiography and the value of pre-operative intraarterial embolization. Br J Plast Surg 1983;36:501-506.
57. Lin AE, Birch PH, Korf BR, et al. Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet 2000;95:108-117.
58. Lin AE, Garver KL. Cardiac abnormalities in neurofibromatosis. Neurofibromatosis 1988;1:146-151.
59. Noubani H, Poon E, Cooper RS, et al. Neurofibromatosis with cardiac involvement. Pediatr Cardiol 1997;18:156-158.
60. Alaeddini J, Frater RW, Shirani J. Cardiac involvement in neurofibromatosis. Tex Heart Inst J 2000;27:218-219.
61. Ruggieri M, D'Arrigo G, Abbate M, et al. Multiple coronary artery aneurysms in a child with neurofibromatosis type 1. Eur J Pediatr 2000;159:477-480.
62. Hamilton SJ, Allard MF, Friedman JM. Cardiac findings in an individual with neurofibromatosis 1 and sudden death. Am J Med Genet 2001;100:95-99.
63. Schorry EK, Crawford AH, Egelhoff JC, et al. Thoracic tumors in children with neurofibromatosis 1. Am J Med Genet 1997; 74:533-537.
64. Nordback P, Halkic N, Boumghar M. Intrathoracic tumours in von Recklinghausen's neurofibromatosis. Schweiz Med Wochenschr 2000;130:1105-1111.
65. Hassoun PM, Celli BR. Bilateral diaphragm paralysis secondary to central von Recklinghausen's disease. Chest 2000;117:1196-2000.
66. Chow LT, Shum BS, Chow WH. Intrathoracic vagus nerve neurofibroma and sudden death in a patient with neurofibromatosis. Thorax 1993;48:298-299.
67. Strickland B, Wolverson MK. Intrathoracic vagus nerve tumours. Thorax 1974;29:215-222.
68. Dabir RR, Piccione W, Kittle CF. Intrathoracic tumors of the vagus nerve. Ann Thorac Surg 1990;50:494-497.
69. Salazar R, Robotti EB, Chin DH, Grossman JA. Giant neurofibromatosis of the chest wall: two patient reports. Ann Plast Surg 1998;41:211-214.
70. Griffiths AP, White J, Dawson A. Spontaneous haemothorax: a cause of sudden death in von Recklinghausen's disease. Postgrad Med J 1998;74:679-681.
71. Miura H, Taira O, Uchida O, et al. Spontaneous haemothorax associated with von Recklinghausen's disease: review of occurrence in Japan. Thorax 1997;52:577-578.
72. Teitelbaum GP, Huvitz RJ, Esrig BC. Hemothorax in type I neurofibromatosis. Ann Thorac Surg 1998;66:569-571.
73. Brady DB, Bolan JC. Neurofibromatosis and spontaneous hemothorax in pregnancy: two case reports. Obstet Gynecol 1984;63[Suppl 3]:35s-38s.
74. Butchart EG, Grotte GJ, Barnsley WC. Spontaneous rupture of an intercostals artery in a patient with neurofibromatosis and scoliosis. J Thorac Cardiovasc Surg 1975;69:919-921.
75. Leier CV, Dewan CJ, Anastasia LF. Fatal hemorrhage as a complication of neurofibromatosis. Vasc Surg 1972;6:98-101.
76. Listernick R, Charrow J, Greenwald M, Mets M. Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study. J Pediatr 1994;125:63-66.
77. Blatt J, Jaffe R, Deutsch M, Adkins JC. Neurofibromatosis and childhood tumors. Cancer 1986;57:1225-1229.
78. Shearer P, Parham D, Kovar E, et al. Neurofibromatosis type 1 and malignancy: review of 32 pediatric cases treated at a single institution. Med Pediatr Oncol 1994;22:78-83.
79. Sorensen SA, Mulvihill JJ, Nielsen A. Along-term follow-up of von Recklinghausen neurofibromatosis: survival and malignant neoplasm. N Engl J Med 1986;314:1010-1015.
80. Zoller ME, Rembeck B, Oden A, et al. Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population. Cancer 1997;79:2125-2131.
81. Korf BR. Plexiform neurofibromas. Am J Med Genet 1999;89:31-37.
82. Dugoff L, Sujansky E. Neurofibromatosis type 1 and pregnancy. Am J Med Genet 1996;66:7-10.
83. Levy WJ, Latchaw J, Hahn JF, et al. Spinal neurofibromas: a report of 66 cases and a comparison with meningiomas. Neurosurgery 1986;18:331-34.
84. Tonsgard JH, Kwak SM, Short MP, Dachman AH. CT imaging in adults with neurofibromatosis 1: frequent asymptomatic plexiform lesions. Neurology 1998;50:1755-1760.
85. Jackson IT, Carbonnel A, Potparic Z, Shaw K. Orbitotemporal neurofibromatosis: classification and treatment. Plast Reconstr Surg 1993;92:1-11.
86. Needle MN, Cnaan A, Dattilo J, et al. Prognostic signs in the surgical management of plexiform neurofibroma: the Children's Hospital of Philadelphia experience, 1974-1994. J Pediatt 1997;131:678-682.
87. Das Gupta TK, Chaudhuri PK. Tumors of the soft tissue. 2nd ed. Stamford, CT: Appleton and Lange; 1998;350-364.
88. Hruban RH, Shiu MH, Senie RT, Woodruff JM. Malignant peripheral nerve sheath tumors of the buttock and lower extremity: a study of 43 cases., Cancer 1990;66:1253-1265.
89. Enzinger FM, Weiss SW, eds. Soft tissue tumors. 3rd ed. St Louis: Mosby-Yearbook; 1995;221-225.
90. Doorn PF, Molenaar WM, Butler J, Hoekstra HJ. Malignant peripheral nerve sheath tumors in patients with and without neurofibromatosis. Eur J Surg Oncol 1995;21:78-82.
91. D'Agostino AN, Soule EH, Miller RH. Sarcomas of the peripheral nerves and somatic soft tissues associated with multiple neurofibromatosis (von Recklinghausen's disease). Cancer 1963;16:1015-1027.
92. Wanebo JE, Malik JM, et al. Malignant peripheral nerve sheath tumors: a clinicopathologic study of 28 cases. Cancer 1993;71:1247-1253.
93. Ducatman BS, Scheithauer BW, Piepgras DG, Reiman HM. Malignant peripheral nerve sheath tumors in childhood. J Neurooncol 1984;2:241-248.
94. Casanova M, Ferrari A, Spreafico F, et al. Malignant peripheral nerve sheath tumors in children: a single-institution twenty-year experience. J Pediatr Hematol Oncol 1999;21:509-513.
95. Raney B, Schnaufer L, Ziegler M, et al. Treatment of children with neurogenic sarcoma: experience at the Children's Hospital of Philadelphia, 1958-1984. Cancer 1987;59:1-5.
96. Das Gupta TK, Brasfield RD. Solitary malignant schwannoma. Ann Surg 1970;171:419-428.
97. Neville HL, Corpron C, Raney B, Andrassy RJ. Pediatric neurofibrosarcoma. J Pediatr Surg (In Press).
98. Brennan MF, Casper ES, Harrison LB, et al. The role of multimodality therapy in soft-tissue sarcoma. Ann Surg 1991;214:328-336.
99. Williard WC, Collin C, Casper ES, et al. The changing role of amputation for soft tissue sarcoma of the extremity in adults. Surg Gynecol Obstet 1992;175:389-396.
100. Brasfield RD, Das Gupta TK. Von Recklinghausen's disease: a clinicopathological study. Ann Surg 1972;175:86-104.
101. Holland JF, Frei E, Bast RC, et al, eds. Cancer medicine. 4th ed. Baltimore: Williams and Wilkins; 1997.
102. McGrath PC, Sloan DA, Schwartz RW, Kenady DE. Advances in the diagnosis and therapy of adrenal tumors. Curr Opin Oncol 1998;10:52-57.
103. Schwartz LH, Panicek DM, Doyle MV, et al. Comparison of two algorithms and their associated charges when evaluating adrenal masses in patients with malignancies. Am J Roentgenol 1997;168:1575-1578.
104. Lucon AM, Pereira MA, Mendonca BB, et al. Pheochromocytoma: study of 50 cases. J Urol 1997;157:1208-1212.
105. Goldfien A. Phaeochromocytoma. Clin Endocrinol Metab 1981;10:607-630.
106. Cullen ML, Staren ED, Straus AK, et al. Pheochromocytoma: operative strategy. Surgery 1985;98:927-930.
107. Juan D. Pharmacologic agents in the management of pheochromocytoma. South Med J 1982;75:211-216.
108. Takeda M, Go H, Watanabe R, et al. Retroperitoneal laparoscopic adrenalectomy for functioning adrenal tumors: comparison with conventional transperitoneal laparoscopic adrenalectomy. J Urol 1997;157:19-23.
109. Vargas HI, Kavoussi LR, Bartlett DL, et al. Laparoscopic adrenalectomy: a new standard of care. Urology 1997;49:673-678.