Neurofibromatose do tipo 1

Riccardi VM. Neurofibromatosis: phenotype, natural history and pathogenesis. 2nd ed. Baltimore, MD: Johns Hopkins University Press; 1992.

National Institutes of Health consensus development conference statement. Bethesda, MD, July 13-15, 1987. Neurofibromatosis. 1988;1(3):172-8.Texto completo  Resumo

Mulvihill JJ, Parry DM, Sherman JL, et al. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis): an update. Ann Intern Med. 1990 Jul 1;113(1):39-52. Resumo

Rodrigues LO, Batista PB, Goloni-Bertollo EM, et al. Neurofibromatoses: part 1 - diagnosis and differential diagnosis. Arq Neuropsiquiatr. 2014 Mar;72(3):241-50. Resumo

Messiaen LM, Callens T, Mortier G, et al. 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;15(6):541-55. Resumo

Listernick R, Ferner RE, Liu GT, et al. Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol. 2007 Mar;61(3):189-98. Resumo

Lammert M, Friedman JM, Kluwe L, et al. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol. 2005;141:71-4.Texto completo  Resumo

Evans DG, Baser ME, McGaughran J, et al. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. 2002 May;39(5):311-4. Resumo

1. Riccardi VM. Neurofibromatosis: phenotype, natural history and pathogenesis. 2nd ed. Baltimore, MD: Johns Hopkins University Press; 1992.

2. National Institutes of Health consensus development conference statement. Bethesda, MD, July 13-15, 1987. Neurofibromatosis. 1988;1(3):172-8.Texto completo  Resumo

3. Mulvihill JJ, Parry DM, Sherman JL, et al. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis): an update. Ann Intern Med. 1990 Jul 1;113(1):39-52. Resumo

4. Upadhyaya M, Huson SM, Davies M, et al. An absence of cutaneous neurofibromas associated with a 3-bp in-frame deletion in exon 17 of the Nf1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet. 2007 Jan;80(1):140-51.Texto completo  Resumo

5. Evans DG, Howard E, Giblin C, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A. 2010 Feb;152A(2):327-32. Resumo

6. Uusitalo E, Leppävirta J, Koffert A, et al. Incidence and mortality of neurofibromatosis: a total population study in Finland. J Invest Dermatol. 2015 Mar;135(3):904-06.Texto completo  Resumo

7. Gitler AD, Kong Y, Choi JK, et al. Tie2-Cre-induced inactivation of a conditional mutant Nf1 allele in mouse results in a myeloproliferative disorder that models juvenile myelomonocytic leukemia. Pediatr Res. 2004 Apr;55(4):581-4.Texto completo  Resumo

8. Shen MH, Harper PS, Upadhyaya M. Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet. 1996 Jan;33(1):2-17.Texto completo  Resumo

9. Sharif S, Upadhyaya M, Ferner R, et al. A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations. J Med Genet. 2011 Apr;48(4):256-60. Resumo

10. Riccardi VM. Cutaneous manifestations of neurofibromatosis: cellular interaction, pigmentation, and mast cells. Birth Defects. 1981;17:129-45.

11. Rodrigues LO, Batista PB, Goloni-Bertollo EM, et al. Neurofibromatoses: part 1 - diagnosis and differential diagnosis. Arq Neuropsiquiatr. 2014 Mar;72(3):241-50. Resumo

12. Petri BJ, van Eijck CH, de Herder WW, et al. Phaeochromocytomas and sympathetic paragangliomas. Br J Surg. 2009 Dec;96(12):1381-92.Texto completo  Resumo

13. Evans DGR, Salvador H, Chang VY, et al. Cancer and central nervous system tumor surveillance in pediatric neurofibromatosis 1. Clin Cancer Res. 2017 Jun 15;23(12):e46-53. Resumo

14. Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021 Aug;23(8):1506-13.Texto completo  Resumo

15. Lewis RA, Gerson LP, Axelson KA, et al. Von Recklinghausen neurofibromatosis. II. Incidence of optic gliomata. Ophthalmology. 1984 Aug;91(8):929-35. Resumo

16. Samuelsson B, Riccardi VM. Neurofibromatosis in Gothenburg, Sweden. II. Intellectual compromise. Neurofibromatosis. 1989;2(2):78-83. Resumo

17. Samuelsson B, Riccardi VM. Neurofibromatosis in Gothenburg, Sweden. III. Psychiatric and social aspects. Neurofibromatosis. 1989;2(2):84-106. Resumo

18. Erb MH, Uzcategui N, See RF, et al. Orbitotemporal neurofibromatosis: classification and treatment. Orbit. 2007 Dec;26(4):223-8. Resumo

19. Wilne S, Collier J, Kennedy C, et al. Presentation of childhood CNS tumours: a systematic review and meta-analysis. Lancet Oncol. 2007 Aug;8(8):685-95. Resumo

20. Garg S, Green J, Leadbitter K, et al. Neurofibromatosis type 1 and autism spectrum disorder. Pediatrics. 2013 Dec;132(6):e1642-8.Texto completo  Resumo

21. Ferner RE, Lucas JD, O'Doherty MJ, et al. Evaluation of (18)fluorodeoxyglucose positron emission tomography ((18)FDG PET) in the detection of malignant peripheral nerve sheath tumours arising from within plexiform neurofibromas in neurofibromatosis 1. J Neurol Neurosurg Psychiatry. 2000 Mar;68(3):353-7. Resumo

22. Messiaen LM, Callens T, Mortier G, et al. 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;15(6):541-55. Resumo

23. Baser ME, Friedman JM, Wallace AJ, et al. Evaluation of clinical diagnostic criteria for neurofibromatosis 2. Neurology. 2002 Dec 10;59(11):1759-65. Resumo

24. Baser ME, Kuramoto L, Woods R, et al. The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. J Med Genet. 2005 Jul;42(7):540-6. Resumo

25. Albright F, Scoville B, Sulkowitch HW. Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation, and a gonadal dysfunction: further observations including the report of two more cases. Endocrinology. 1938;22:411-21.

26. Lumbroso S, Paris F, Sultan C. Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome: a European collaborative study. J Clin Endocrinol Metab. 2004 May;89(5):2107-13.Texto completo  Resumo

27. Brunner HG, Hulsebos T, Steijlen PM, et al. Exclusion of the neurofibromatosis 1 locus in a family with inherited cafe-au-lait spots. Am J Med Genet. 1993 Jun 1;46(4):472-4. Resumo

28. Brems H, Pasmant E, Van Minkelen R, et al. Review and update of SPRED1 mutations causing Legius syndrome. Hum Mutat. 2012 Nov;33(11):1538-46. Resumo

29. Brems H, Chmara M, Sahbatou M, et al. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet. 2007 Sep;39(9):1120-6. Resumo

30. Biesecker LG, Happle R, Mulliken JB, et al. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet. 1999 Jun 11;84(5):389-95. Resumo

31. Burkitt Wright EM, Sach E, Sharif S, et al. Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. J Med Genet. 2013 Sep;50(9):606-13.Texto completo  Resumo

32. Listernick R, Ferner RE, Liu GT, et al. Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol. 2007 Mar;61(3):189-98. Resumo

33. Evans DG, Bowers N, Burkitt-Wright E. Comprehensive RNA analysis of the NF1 gene in classically affected NF1 affected individuals meeting NIH criteria has high sensitivity and mutation negative testing is reassuring in isolated cases with pigmentary features only. Ebiomedicine. 2016 May;7:212-20.Texto completo  Resumo

34. Lammert M, Friedman JM, Kluwe L, et al. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol. 2005;141:71-4.Texto completo  Resumo

35. Uusitalo E, Kallionpää RA, Kurki S, et al. Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors. Br J Cancer. 2017 Jan 17;116(2):211-7. Resumo

36. 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):481-4.Texto completo  Resumo

37. Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [updated 2022 Apr 21]. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [internet]. Seattle, WA: University of Washington, Seattle; 1993-2022.Texto completo

38. ClinicalTrials.gov. AZD6244 hydrogen sulfate for children with nervous system tumors. NCT01362803. Aug 2018 [internet publication].Texto completo

39. Dombi E, Baldwin A, Marcus LJ, et al. Activity of selumetinib in neurofibromatosis type 1-related plexiform neurofibromas. N Engl J Med. 2016 Dec 29;375(26):2550-60.Texto completo  Resumo

40. Gross AM, Wolters PL, Dombi E, et al. Selumetinib in children with inoperable plexiform neurofibromas. N Engl J Med. 2020 Apr 9;382(15):1430-42.Texto completo  Resumo

41. National Institute for Health and Care Excellence. Selumetinib for treating symptomatic and inoperable plexiform neurofibromas associated with type 1 neurofibromatosis in children aged 3 and over. May 2022 [internet publication].Texto completo

42. Riccardi VM. Mast-cell stabilization to decrease neurofibroma growth. Preliminary experience with ketotifen. Arch Dermatol. 1987 Aug;123(8):1011-6. Resumo

43. Riccardi VM. A controlled multiphase trial of ketotifen to minimize neurofibroma-associated pain and itching. Arch Dermatol. 1993 May;129(5):577-81. Resumo

44. Miller DT, Freedenberg D, Schorry E, et al; Council on Genetics; American College of Medical Genetics and Genomics. Health supervision for children with neurofibromatosis type 1. Pediatrics. 2019 May;143(5):e20190660.Texto completo  Resumo

45. Packer RJ, Iavarone A, Jones DTW, et al. Implications of new understandings of gliomas in children and adults with NF1: report of a consensus conference. Neuro Oncol. 2020 Jun 9;22(6):773-84.Texto completo  Resumo

46. Ylä-Outinen H, Loponen N, Kallionpää RA, et al. Intestinal tumors in neurofibromatosis 1 with special reference to fatal gastrointestinal stromal tumors (GIST). Mol Genet Genomic Med. 2019 Sep;7(9):e927.Texto completo  Resumo

47. Mussi C, Schildhaus HU, Gronchi A, et al. Therapeutic consequences from molecular biology for gastrointestinal stromal tumor patients affected by neurofibromatosis type 1. Clin Cancer Res. 2008 Jul 15;14(14):4550-5.Texto completo  Resumo

48. Kalender M, Sevinc A, Tutar E, et al. Effect of sunitinib on metastatic gastrointestinal stromal tumor in patients with neurofibromatosis type 1: a case report. World J Gastroenterol. 2007 May 14;13(18):2629-32.Texto completo  Resumo

49. Evans DG, Baser ME, McGaughran J, et al. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. 2002 May;39(5):311-4. Resumo

50. Kestle JR, Hoffman HJ, Mock AR. Moyamoya phenomenon after radiation for optic glioma. J Neurosurg. 1993 Jul;79(1):32-5.

51. Sharif S, Ferner R, Birch JM, et al. Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: substantial risks after radiotherapy. J Clin Oncol. 2006 Jun 1;24(16):2570-5.Texto completo  Resumo

52. Díaz-Delgado M, Hernández-Amate A, Sánchez-León M, et al. Multiple non-metastatic gastrointestinal stromal tumors. Differential features. Rev Esp Enferm Dig. 2010 Jul;102(8):489-97. Resumo

53. Relles D, Baek J, Witkiewicz A, et al. Periampullary and duodenal neoplasms in neurofibromatosis type 1: two cases and an updated 20-year review of the literature yielding 76 cases. J Gastrointest Surg. 2010 Jun;14(6):1052-61. Resumo

54. Weiss BD, Wolters PL, Plotkin SR, et al. NF106: a Neurofibromatosis Clinical Trials Consortium phase II trial of the MEK inhibitor mirdametinib (PD-0325901) in adolescents and adults with NF1-related plexiform neurofibromas. J Clin Oncol. 2021 Mar 1;39(7):797-806.Texto completo  Resumo

55. ClinicalTrials.gov. NFX-179 topical gel treatment in adults with neurofibromatosis 1 (NF1) and cutaneous neurofibromas (cNF). Aug 2021 [internet publication].Texto completo

56. ClinicalTrials.gov. NFX-179 topical gel treatment for adults with neurofibromatosis 1 (NF1) and cutaneous neurofibromas (cNF). Nov 2021 [internet publication].Texto completo

57. Demetri GD, Reichardt P, Kang YK, et al; GRID study investigators. Efficacy and safety of regorafenib for advanced gastrointestinal stromal tumours after failure of imatinib and sunitinib (GRID): an international, multicentre, randomised, placebo-controlled, phase 3 trial. Lancet. 2013 Jan 26;381(9863):295-302.Texto completo  Resumo

58. 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):1961-7.Texto completo  Resumo

59. Mainberger F, Jung NH, Zenker M, et al. Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1. BMC Neurol. 2013 Oct 2;13:131.Texto completo  Resumo

60. van der Vaart T, Plasschaert E, Rietman AB, et al. Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial. Lancet Neurol. 2013 Nov;12(11):1076-83. Resumo

61. Duong TA, Sbidian E, Valeyrie-Allanore L, et al. Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France. Orphanet J Rare Dis. 2011 May 4;6:18.Texto completo  Resumo

62. 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):1110-8.Texto completo  Resumo