神经纤维瘤病1 型

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.全文  摘要

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. 摘要

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

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. 摘要

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. 摘要

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.全文  摘要

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. 摘要

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.全文  摘要

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. 摘要

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.全文  摘要

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. 摘要

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.全文  摘要

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.全文  摘要

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

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. 摘要

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. 摘要

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

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. 摘要

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.全文  摘要

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

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

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

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

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. 摘要

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

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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.全文  摘要

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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.全文  摘要

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. 摘要

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.全文  摘要

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.全文  摘要

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. 摘要

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.全文  摘要

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.全文

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

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.全文  摘要

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.全文  摘要

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].全文

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

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

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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. 摘要

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.全文  摘要

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. 摘要

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. 摘要

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.全文  摘要

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

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

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.全文  摘要

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.全文  摘要

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.全文  摘要

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. 摘要

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.全文  摘要

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.全文  摘要