Perioperative management of neurofibromatosis type 1

Ochsner Journal

Volumn 12, Issue 2, 2012, Pages 111-121

  Fox, Charles J ^a   Tomajian, Samir ^a   Kaye, Aaron J ^b,c   Russo, Stephanie ^a   Abadie, Jacqueline Volpi ^b,d   Kaye, Alan D ^b  

^a TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c STANFORD UNIVERSITY   (United States)

^d OCHSNER CLINIC FOUNDATION   (United States)

Author keywords

Anesthesia; Caf au lait macules; Neurofibromatosis type 1; NF1 gene

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; NEUROFIBROMIN; NEUROMUSCULAR BLOCKING AGENT;

ANESTHESIA COMPLICATION; CAFE AU LAIT SPOT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DOWN REGULATION; GENE; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC COUNSELING; GENETIC LINKAGE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HAMARTOMA; HUMAN; MUSCULOSKELETAL DISEASE; NEUROFIBROMA; NEUROFIBROMATOSIS; NF1 GENE; NONHUMAN; OPTIC NERVE GLIOMA; OUTCOME ASSESSMENT; PATHOGENESIS; PERIOPERATIVE PERIOD; PREGNANCY; REVIEW;

EID: 84862738474     PISSN: 15245012     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (75)

1. National Institute of Neurological Disorders and Stroke. Neurofibromatosis Fact Sheet. May 2011. http://www.ninds.nih. gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm. Accessed 16 March 2012.
2. Mulvihill JJ, Parry DM, Sherman JL, Pikus A, Kaiser-Kupfer MI, Eldridge R. NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update. Ann Intern Med. 1990 Jul 1;113(1):39-52.
3. Nussbaum R, McInnes R, Willard HF. Thompson & Thompson Genetics in Medicine. Philadelphia, PA: W.B. Saunders; 2007: 119-120, 292-293.
4. Cawthon RM, O'Connell P, Buchberg AM, et al. Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts. Genomics. 1990 Aug;7(4):555-565.
5. Wallace MR, Marchuk DA, Andersen LB, et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science. 1990 Jul 13;249(4965): 181-186. Erratum in: Science. 1990 Dec 21;250(4988):1749.
6. Friedman JM. Neurofibromatosis 1. GeneReviews, NCBI Bookshelf. June 2, 2009. http://www.ncbi.nlm.nih.gov/books/ NBK1109/#nfl.genetic_Counseling. Accessed 2 October 2010.
7. Feldkamp MM, Angelov L, Guha A. Neurofibromatosis type 1 peripheral nerve tumors: aberrant activation of the Ras pathway. Surg Neurol. 1999 Feb;51(2):211-218.
8. Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007 Apr;6(4):340-351.
9. Passarge E. Color Atlas of Genetics. Stuttgart, Germany: Georg Thieme Publishers; 2007:338-339.
10. Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol. 2009 Jul;61(1):1-14; quiz 15-16.
11. Plon SE, Blazo M. Neurofibromatosis type 1 (von Recklinghausen's disease). UpToDate. Waltham, MA: Wolters Kluwer Health; 2011. http://www.uptodate.com. Accessed 8 March 2012.
12. Jett K, Friedman JM. Clinical and genetic aspects of neurofibromatosis 1. Genet Med. 2010 Jan;12(1):1-11.
13. Jouhilahti EM, Peltonen S, Heape AM, Peltonen J. The pathoetiology of neurofibromatosis 1. Am J Pathol. 2011 May; 178(5):1932-1939. Epub 2011 Mar 31.
14. Ars E, Kruyer H, Morell M, et al. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J Med Genet. 2003 Jun;40(6):e82.
15. Stephens K, Kayes L, Riccardi VM, Rising M, Sybert VP, Pagon RA. Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes. Hum Genet. 1992 Jan;88(3): 279-282.
16. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. 1988 May;45(5):575-578.
17. DeBella K, Szudek J, Friedman JM. Use of the National Institutes of Health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000 Mar;105(3 Pt 1):608-614.
18. De Schepper S, Maertens O, Callens T, Naeyaert JM, Lambert J, Messiaen L. Somatic mutation analysis in NF1 cafeáu lait spots reveals two NF1 hits in the melanocytes. J Invest Dermatol. 2008 Apr;128(4):1050-1053. Epub 2007 Oct 4.
19. Le LQ, Shipman T, Burns DK, Parada LF. Cell of origin and microenvironment contribution for NF1-associated dermal neurofibromas. Cell Stem Cell. 2009 May 8;4(5):453-463.
20. Kumar V, Cotran RS, Robbins SL, eds. Basic Pathology. Philadelphia, PA: W.B. Saunders; 1997:189-190.
21. Ling BC, Wu J, Miller SJ, et al. Role for the epidermal growth factor receptor in neurofibromatosis-related peripheral nerve tumorigenesis. Cancer Cell. 2005 Jan;7(1):65-75.
22. Carroll SL, Ratner N. How does the Schwann cell lineage form tumors in NF1? Glia. 2008 Nov 1;56(14):1590-1605.
23. Gutmann DH. Recent insights into neurofibromatosis type 1: clear genetic progress. Arch Neurol. 1998 Jun;55(6):778-780.
24. Lammert M, Friedman JM, Roth HJ, et al. Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1. J Med Genet. 2006 Oct;43(10):810-813. Epub 2006 Mar 29.
25. Tucker T, Wolkenstein P, Revuz J, Zeller J, Friedman JM. Association between benign and malignant peripheral nerve sheath tumors in NF1. Neurology. 2005 Jul 26;65(2):205-211.
26. Airewele GE, Sigurdson AJ, Wiley KJ, et al. Neoplasms in neurofibromatosis 1 are related to gender but not to family history of cancer. Genet Epidemiol. 2001 Jan;20(1):75-86.
27. Walker L, Thompson D, Easton D, et al. A prospective study of neurofibromatosis type 1 cancer incidence in the UK. Br J Cancer. 2006 Jul 17;95(2):233-238. Epub 2006 Jun 20.
28. Kleinerman RA. Radiation-sensitive genetically susceptible pediatric sub-populations. Pediatr Radiol. 2009 Feb;39 Suppl 1: S27-S31. Epub 2008 Dec 16.
29. Kluwe L, Friedrich RE, Peiper M, Friedman J, Mautner VF. Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors. Hum Mutat. 2003 Nov; 22(5):420.
30. Upadhyaya M, Spurlock G, Majounie E, et al. The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs). Hum Mutat. 2006 Jul;27(7):716.
31. Spiro SG. Lung tumours. In: Brewis RAL, Gibson GJ, Geddes DM, eds. Respiratory Medicine. London, UK: Balliere Tindall; 1990: 874.
32. Li W, Cui Y, Kushner SA, et al. The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1. Curr Biol. 2005 Nov 8; 15(21):1961-1967.
33. Listernick R, Ferner RE, Liu GT, Gutmann DH. Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol. 2007 Mar;61(3):189-198.
34. Friedman JM, Birch P. An association between optic glioma and other tumours of the central nervous system in neurofibromatosis type 1. Neuropediatrics. 1997 Apr;28(2):131-132.
35. Seif AE. Pediatric leukemia predisposition syndromes: clues to understanding leukemogenesis. Cancer Genet. 2011 May;204(5): 227-244.
36. 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 Sep;29(9):1170-1176.
37. Burgdorf WH, Zelger B. JXG, NF1, and JMML: alphabet soup or a clinical issue? Pediatr Dermatol. 2004 Mar-Apr;21(2):174-176.
38. Sharif S, Moran A, Huson SM, et al. Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet. 2007 Aug;44(8):481-484. Epub 2007 Mar 16.
39. Schindeler A, Little DG. Recent insights into bone development, homeostasis, and repair in type 1 neurofibromatosis (NF1). Bone. 2008 Apr;42(4):616-622. Epub 2007 Nov 28.
40. el Oakley R, Grotte GJ. Progressive tracheal and superior vena caval compression caused by benign neurofibromatosis. Thorax. 1994 Apr;49(4):380-381.
41. Tewari P, Pandey CK, Tyagi I. Retropharyngeal neurofibroma presenting with severe kypho-scoliosis: respiratory obstruction in postoperative period. Can J Anaesth. 2001 Apr;48(4):422-423.
42. Hirsch NP, Murphy A, Radcliffe JJ. Neurofibromatosis: clinical presentations and anaesthetic implications. Br J Anaesth. 2001 Apr;86(4):555-564.
43. Friedman JM, Arbiser J, Epstein JA, et al. Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Genet Med. 2002 May-Jun;4(3):105-111.
44. Oderich GS, Sullivan TM, Bower TC, et al. Vascular abnormalities in patients with neurofibromatosis syndrome type I: clinical spectrum, management, and results. J Vasc Surg. 2007 Sep; 46(3):475-484. Epub 2007 Jul 30.
45. Lasater EA, Li F, Bessler WK, et al. Genetic and cellular evidence of vascular inflammation in neurofibromin-deficient mice and humans. J Clin Invest. 2010 Mar 1;120(3):859-870. Epub 2010 Feb 15.
46. Rubinstein LJ. The malformative central nervous system lesions in the central and peripheral forms of neurofibromatosis. A neuropathological study of 22 cases. Ann N Y Acad Sci. 1986; 486:14-29.
47. Salyer WR, Salyer DC. The vascular lesions of neurofibromatosis. Angiology. 1974 Sep;25(8):510-519.
48. Ahlgren-Beckendorf JA, Maggio WW, Chen F, Kent TA. Neurofibromatosis 1 mRNA expression in blood vessels. Biochem Biophys Res Commun. 1993 Dec 15;197(2):1019-1024.
49. Hamilton SJ, Friedman JM. Insights into the pathogenesis of neurofibromatosis 1 vasculopathy. Clin Genet. 2000 Nov;58(5): 341-344.
50. Norton KK, Xu J, Gutmann DH. Expression of the neurofibromatosis I gene product, neurofibromin, in blood vessel endothelial cells and smooth muscle. Neurobiol Dis. 1995 Feb; 2(1):13-21.
51. Riccardi VM. Histogenesis control genes and neurofibromatosis 1. Eur J Pediatr. 2000 Jul;159(7):475-476.
52. Walther MM, Herring J, Enquist E, Keiser HR, Linehan WM. von Recklinghausen's disease and pheochromocytomas. J Urol. 1999 Nov;162(5):1582-1586.
53. Lin AE, Garver KL. Cardiac abnormalities in neurofibromatosis. Neurofibromatosis. 1988;1(3):146-151.
54. Tedesco MA, Di Salvo G, Natale F, et al. The heart in neurofibromatosis type 1: an echocardiographic study. Am Heart J. 2002 May;143(5):883-888.
55. Fitzpatrick AP, Emanuel RW. Familial neurofibromatosis and hypertrophic cardiomyopathy. Br Heart J. 1988 Sep;60(3):247-251.
56. Van Aken H, Scherer R, Lawin P. A rare intra-operative complication in a child with Von Recklinghausen's neurofibromatosis. Anaesthesia. 1982 Aug;37(8):827-829.
57. Dodge TL, Mahaffey JE, Thomas JD. The anesthetic management of a patient with an obstructing intratracheal mass: a case report. Anesth Analg. 1977 Mar-Apr;56(2):295-298.
58. Chen PT, Chang WK, Hsu WH, Sung CS, Chan KH, Tsai SK. Anesthetic management of a patient undergoing segmental resection of trachea with an endotracheal neurofibroma and nearly total occlusion of trachea. Acta Anaesthesiol Taiwan. 2004 Dec;42(4):233-236.
59. Riccardi VM, Eichner JE. Neurofibromatosis: Phenotype, Natural History and Pathogenesis. Baltimore, MD: Johns Hopkins University Press; 1986.
60. Ryu JH, Parambil JG, McGrann PS, Aughenbaugh GL. Lack of evidence for an association between neurofibromatosis and pulmonary fibrosis. Chest. 2005 Oct;128(4):2381-2386.
61. Webb WR, Goodman PC. Fibrosing alveolitis in patients with neurofibromatosis. Radiology. 1977 Feb;122(2):289-293.
62. Dounas M, Mercier FJ, Lhuissier C, Benhamou D. Epidural analgesia for labour in a parturient with neurofibromatosis. Can J Anaesth. 1995 May;42(5 Pt 1):420-422; discussion 422-424.
63. Basile U, Cavallaro G, Polistena A, et al. Gastrointestinal and retroperitoneal manifestations of type 1 neurofibromatosis. J Gastrointest Surg. 2010 Jan;14(1):186-194.
64. Wheeler MH, Curley IR, Williams ED. The association of neurofibromatosis, pheochromocytoma, and somatostatin-rich duodenal carcinoid tumor. Surgery. 1986 Dec;100(6):1163-1169.
65. Eisenhofer G, Bornstein SR. Surgery: risks of hemodynamic instability in pheochromocytoma. Nat Rev Endocrinol. 2010 Jun; 6(6):301-302.
66. Young WF, Kaplan NM, Kebebew E. Treatment of pheochromocytoma in adults. UpToDate. Waltham, MA: Wolters Kluwer Health; 2012. http://www.uptodate.com. Accessed 8 March 2012.
67. Claure RE, Drover DD, Haddow GR, Esquivel CO, Angst MS. Orthotopic liver transplantation for carcinoid tumour metastatic to the liver: anesthetic management. Can J Anaesth. 2000 Apr; 47(4):334-337.
68. Dierdorf SF. Carcinoid tumor and carcinoid syndrome. Curr Opin Anaesthesiol. 2003 Jun;16(3):343-347.
69. Goldfinger SE, Strosberg JR. Treatment of the carcinoid syndrome. UpToDate. Waltham, MA: Wolters Kluwer Health; 2012. http://www.uptodate.com. Accessed 8 March 2012.
70. Segal D, Holcberg G, Sapir O, Sheiner E, Mazor M, Katz M. Neurofibromatosis in pregnancy. Maternal and perinatal outcome. Eur J Obstet Gynecol Reprod Biol. 1999 May;84(1):59-61.
71. Richardson MG, Setty GK, Rawoof SA. Responses to nondepolarizing neuromuscular blockers and succinylcholine in von Recklinghausen neurofibromatosis. Anesth Analg. 1996 Feb; 82(2):382-385.
72. Hummel T, Anyane-Yeboa A, Mo J, Towbin A, Weiss B. Response of NF1-related plexiform neurofibroma to high-dose carboplatin. Pediatr Blood Cancer. 2011 Mar;56(3):488-490. Epub 2010 Nov 11.
73. Malav IC, Kothari SS. Renal artery stenosis due to neurofibromatosis. Ann Pediatr Cardiol. 2009 Jul;2(2):167-169.
74. Hersh JH; American Academy of Pediatrics Committee on Genetics. Health supervision for children with neurofibromatosis. Pediatrics. 2008 Mar;121(3):633-642.
75. Rasmussen SA, Yang Q, Friedman JM. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet. 2001 May;68(5):1110-1118. Epub 2001 Mar 28.