Neurofibromatosis type 1 and 2
DOI:
https://doi.org/10.51987/Rev.Hosp.Ital.B.Aires.v39i4.501Keywords:
neurofibromatosis, neurofibroma, schwannoma, meningioma, café-au-lait macules, plexiform neurofibroma, neurofibromin, schwannomin, malignant peripheral nerve sheath tumors, optic pathway gliomas, Lisch nodule, bevacizumab, vestibular schwannomas, von Recklinghausen disease, selumetinibAbstract
Neurofibromatosis (NF) includes a group of genetic diseases with an autosomal-dominant inheritance pattern, and they are classified as follows: Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and Schwannomatosis (also known as neurofibromatosis type 3). This last one is a very rare disease, with an approximate prevalence of 1/126000, so we will only deepen in the first two. NF1, also known as von Recklinghausen disease, is the most frequent, and mainly affects the skin and peripheral nervous system. Its typical manifestations are the presence of café-au-lait macules, axillary or inguinal freckles, Lisch nodules (hamartomas in the iris) and neurofibromas (peripheral nerve sheath tumors). Less frequent manifestations, although more serious, include optic nerve gliomas, meningiomas, malignant neurofibromas, scoliosis and tibial dysplasia. The diagnosis is usually made at birth or during the first years of life, and approximately 50% of patients present cognitive difficulties. There is no conclusive data on mortality in patients with NF1, although it is known that life expectancy is lower than in general population. NF2 has a considerably lower prevalence than NF1, and its onset is later in life, mainly affecting young adults. Its typical clinical presentation is characterized by tinnitus, hearing loss and ataxia in the context in the presence of bilateral vestibular schwannomas. Less frequent findings include peripheral nerve schwannomas, meningiomas, ependymomas or astrocytomas. Life expectancy is about 36 years old, with a median survival from the moment of diagnosis of 15 years.
Downloads
References
Baser ME, Friedman JM, Aeschliman D, et al. Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet. 2002; 71:715-2. DOI: https://doi.org/10.1086/342716
Blakeley JO, Plotkin SR. Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis. Neuro Oncol. 2016; 18:624-38. DOI: https://doi.org/10.1093/neuonc/nov200
Blakeley JO, Ye X, Duda DG, et al. Efficacy and biomarker study of bevacizumab for hearing loss resulting from neurofibromatosis type 2-associated vestibular schwannomas. J Clin Oncol. 2016; 34(14):1669-75. DOI: https://doi.org/10.1200/JCO.2015.64.3817
Chung LK, Nguyen TP, Sheppard JP, et al. A systematic review of radiosurgery versus surgery for neurofibromatosis type 2 vestibular schwannomas. World Neurosurg. 2018; 109:47-58. DOI: https://doi.org/10.1016/j.wneu.2017.08.159
de Miguel V, Paissan A, García Marchiñena P, et al. Bilateral Pheochromocytoma after Kidney Transplantation in Neurofibromatosis Type 1. Endocrinol Diabetes Metab Case Rep. 2019; 2019:18-0162. DOI: https://doi.org/10.1530/EDM-18-0162
DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000; 105(3pt1):608-14. DOI: https://doi.org/10.1542/peds.105.3.608
Dombi E, Baldwin A, Marcus LJ, et al. Activity of selumetinib in neurofibromatosis type 1-related plexiform neurofibromas. N Engl J Med. 2016; 375(26):2550-60. DOI: https://doi.org/10.1056/NEJMoa1605943
Elefteriou F, Kolanczyk M, Schindeler A, et al. Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. Am J Med Genet A. 2009; 149A:2327-38. DOI: https://doi.org/10.1002/ajmg.a.33045
Evans DG, Baser ME, McGaughran J, et al. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. 2002; 39:311-4. DOI: https://doi.org/10.1136/jmg.39.5.311
Evans DG, Baser ME, O’Reilly B, et al. Management of the patient and family with neurofibromatosis 2: a consensus conference statement. Br J Neurosurg. 2005; 19:5-12. DOI: https://doi.org/10.1080/02688690500081206
Evans DG, Birch JM, Ramsden RT, et al. Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes. J Med Genet. 2006; 43:289-94. DOI: https://doi.org/10.1136/jmg.2005.036319
Evans DG, Bowers N, Huson SM, et al. Mutation type and position varies between mosaic and inherited NF2 and correlates with disease severity. Clin Genet. 2013; 83:594-5. DOI: https://doi.org/10.1111/cge.12007
Evans DG, O’Hara C, Wilding A, et al. Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989. Eur J Hum Genet. 2011; 19:1187-91. DOI: https://doi.org/10.1038/ejhg.2011.113
Fangusaro J, Arzu Onar T, Young Poussaint T, et al. Selumetinib in paediatric patients with BRAFaberrant or neurofibromatosis type 1-associated recurrent, refractory, or progressive low-grade glioma: a multicentre, phase 2 trial. Lancet Oncol. 2019; 20:1011-22. DOI: https://doi.org/10.1016/S1470-2045(19)30277-3
Friedrich RE, Stelljes C, Hagel C, et al. Dysplasia of the orbit and adjacent bone associated with plexiform neurofibroma and ocular disease in 42 NF-1 patients. Anticancer Res. 2010; 30:1751-64.
Goutagny S, Kalamarides M. Meningiomas and neurofibromatosis. J Neurooncol. 2010; 99:341-7. DOI: https://doi.org/10.1007/s11060-010-0339-x
Halliday J, Rutherford SA, McCabe MG, et al. An update on the diagnosis and treatment of vestibular schwannoma. Expert Rev Neurother. 2018; 18:29-39. DOI: https://doi.org/10.1080/14737175.2018.1399795
Hernández-Martín A, Duat-Rodríguez A. Neurofibromatosis tipo 1: más que manchas café con leche, efélides y neurofibromas. Parte I. Actualización sobre los criterios dermatológicos diagnósticos de la enfermedad. Actas Dermosifiliogr. 2016; 107(6):454-64. DOI: https://doi.org/10.1016/j.ad.2016.01.004
Hernández-Martín A, Duat-Rodríguez A. Neurofibromatosis tipo 1: más que manchas café con leche, efélides y neurofibromas. Parte II. Actualización sobre otras manifestaciones cutáneas características de la enfermedad. NF1 y cáncer. Actas Dermosifiliogr. 2016; 107(6): 465-73. DOI: https://doi.org/10.1016/j.ad.2016.01.009
Hexter A, Jones A, Joe H, et al. Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients. J Med Genet. 2015; 52:699-705. DOI: https://doi.org/10.1136/jmedgenet-2015-103290
Hsieh HY, Fung HC, Wang CJ, et al. Epileptic seizures in neurofibromatosis type 1 are related to intracranial tumors but not to neurofibromatosis bright objects. Seizure. 2011; 20:606-11. DOI: https://doi.org/10.1016/j.seizure.2011.04.016
Karajannis MA, Ferner RE. Neurofibromatosis-related tumors: emerging biology and therapies. Curr Opin Pediatr. 2015;27:26-33. DOI: https://doi.org/10.1097/MOP.0000000000000169
Kriechbaumer LK, Susani M, Kircher SG, et al. Comparative study of CO2- and Er:YAG laser ablation of multiple cutaneous neurofibromas in von Recklinghausen’s disease. Lasers Med Sci. 2014; 29:1083-91. DOI: https://doi.org/10.1007/s10103-013-1469-0
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. DOI: https://doi.org/10.1001/archderm.141.1.71
Lehtonen A, Howie E, Trump D, et al. Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence. Dev Med Child Neurol. 2013; b55:111-25. DOI: https://doi.org/10.1111/j.1469-8749.2012.04399.x
Morris KA, Golding JF, Axon PR, et al. Bevacizumab in neurofibromatosis type 2 (NF2) related vestibular schwannomas: a nationally coordinated approach to delivery and prospective evaluation. Neurooncol Pract. 2016; 3:281-9. DOI: https://doi.org/10.1093/nop/npv065
Plotkin SR, Wick A. Neurofibromatosis and Schwannomatosis. Lancet Oncol. 2019; 20(7):1011-22.
Prada CE, Rangwala FA, Martin LJ, et al. Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1. J Pediatr. 2012; 160:461-7. DOI: https://doi.org/10.1016/j.jpeds.2011.08.051
Rasmussen SA, Yang Q, Friedman JM. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet. 2001; 68:1110-8. DOI: https://doi.org/10.1086/320121
Ruggieri M, Praticò AD, Serra A, et al. Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies. Acta Otorhinolaryngol Ital. 2016; 36:345. DOI: https://doi.org/10.14639/0392-100X-1093
Sellmer L, Farschtschi S, Marangoni M, et al. Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1. Orphanet J Rare Dis. 2018; 13(1):62. DOI: https://doi.org/10.1186/s13023-018-0811-9
Valeyrie-Allanore L, Ismaïli N, Bastuji-Garin S, et al. Symptoms associated with malignancy of peripheral nerve sheath tumours: a retrospective study of 69 patients with neurofibromatosis 1. Br J Dermatol. 2005; 153:79-82. DOI: https://doi.org/10.1111/j.1365-2133.2005.06558.x
Published
Issue
Section
License
Copyright (c) 2020 Revista del Hospital Italiano de Buenos Aires
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
