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Neurofibromatosis

MedGen UID:
58149
•Concept ID:
C0162678
•
Neoplastic Process
Synonyms: Multiple Neurofibroma; Multiple Neurofibromas; Neurofibroma, Multiple; Neurofibromas, Multiple; Neurofibromatoses; Neurofibromatosis Syndrome; Neurofibromatosis Syndromes; Syndrome, Neurofibromatosis; Syndromes, Neurofibromatosis
SNOMED CT: NF - Neurofibromatosis (19133005); Neurofibromatosis (81669005); Multiple neurofibromatosis (81669005); Neurofibromatosis syndrome (19133005); Clinical neurofibromatosis (19133005)
 
Monarch Initiative: MONDO:0021061

Definition

An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, and gliomas. [from NCI]

Professional guidelines

PubMed

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC), Huson SM, Evans DG, Plotkin SR
Genet Med 2021 Aug;23(8):1506-1513. Epub 2021 May 19 doi: 10.1038/s41436-021-01170-5. PMID: 34012067Free PMC Article
EANO guideline on the diagnosis and treatment of vestibular schwannoma.
Goldbrunner R, Weller M, Regis J, Lund-Johansen M, Stavrinou P, Reuss D, Evans DG, Lefranc F, Sallabanda K, Falini A, Axon P, Sterkers O, Fariselli L, Wick W, Tonn JC
Neuro Oncol 2020 Jan 11;22(1):31-45. doi: 10.1093/neuonc/noz153. PMID: 31504802Free PMC Article
The Diagnosis and Management of Neurofibromatosis Type 1.
Ly KI, Blakeley JO
Med Clin North Am 2019 Nov;103(6):1035-1054. doi: 10.1016/j.mcna.2019.07.004. PMID: 31582003

Recent clinical studies

Etiology

Neurofibromatosis type 1 system-based manifestations and treatments: a review.
Saleh M, Dib A, Beaini S, Saad C, Faraj S, El Joueid Y, Kotob Y, Saoudi L, Emmanuel N
Neurol Sci 2023 Jun;44(6):1931-1947. Epub 2023 Feb 24 doi: 10.1007/s10072-023-06680-5. PMID: 36826455
Neurofibromatoses.
Jordan JT, Plotkin SR
Hematol Oncol Clin North Am 2022 Feb;36(1):253-267. Epub 2021 Oct 27 doi: 10.1016/j.hoc.2021.08.010. PMID: 34756486
Health Supervision for Children With Neurofibromatosis Type 1.
Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR; COUNCIL ON GENETICS; AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS
Pediatrics 2019 May;143(5) doi: 10.1542/peds.2019-0660. PMID: 31010905
Neurofibromatosis type 1.
Cimino PJ, Gutmann DH
Handb Clin Neurol 2018;148:799-811. doi: 10.1016/B978-0-444-64076-5.00051-X. PMID: 29478615
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P
Hum Mutat 2013 Nov;34(11):1510-8. Epub 2013 Aug 26 doi: 10.1002/humu.22392. PMID: 23913538

Diagnosis

The management of neurofibromatosis type 1 (NF1) in children and adolescents.
Kerashvili N, Gutmann DH
Expert Rev Neurother 2024 Apr;24(4):409-420. Epub 2024 Feb 27 doi: 10.1080/14737175.2024.2324117. PMID: 38406862
Neurofibromatosis type 1 system-based manifestations and treatments: a review.
Saleh M, Dib A, Beaini S, Saad C, Faraj S, El Joueid Y, Kotob Y, Saoudi L, Emmanuel N
Neurol Sci 2023 Jun;44(6):1931-1947. Epub 2023 Feb 24 doi: 10.1007/s10072-023-06680-5. PMID: 36826455
The Diagnosis and Management of Neurofibromatosis Type 1.
Ly KI, Blakeley JO
Med Clin North Am 2019 Nov;103(6):1035-1054. doi: 10.1016/j.mcna.2019.07.004. PMID: 31582003
Neurofibromatosis type 1: a multidisciplinary approach to care.
Hirbe AC, Gutmann DH
Lancet Neurol 2014 Aug;13(8):834-43. doi: 10.1016/S1474-4422(14)70063-8. PMID: 25030515
Segmental neurofibromatosis.
Adigun CG, Stein J
Dermatol Online J 2011 Oct 15;17(10):25. PMID: 22031651

Therapy

Treatment for Brain Metastases: ASCO-SNO-ASTRO Guideline.
Vogelbaum MA, Brown PD, Messersmith H, Brastianos PK, Burri S, Cahill D, Dunn IF, Gaspar LE, Gatson NTN, Gondi V, Jordan JT, Lassman AB, Maues J, Mohile N, Redjal N, Stevens G, Sulman E, van den Bent M, Wallace HJ, Weinberg JS, Zadeh G, Schiff D
J Clin Oncol 2022 Feb 10;40(5):492-516. Epub 2021 Dec 21 doi: 10.1200/JCO.21.02314. PMID: 34932393
Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis.
Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574Free PMC Article
NF1, Neurofibromin and Gene Therapy: Prospects of Next-Generation Therapy.
Cui XW, Ren JY, Gu YH, Li QF, Wang ZC
Curr Gene Ther 2020;20(2):100-108. doi: 10.2174/1566523220666200806111451. PMID: 32767931
Selumetinib in Children with Inoperable Plexiform Neurofibromas.
Gross AM, Wolters PL, Dombi E, Baldwin A, Whitcomb P, Fisher MJ, Weiss B, Kim A, Bornhorst M, Shah AC, Martin S, Roderick MC, Pichard DC, Carbonell A, Paul SM, Therrien J, Kapustina O, Heisey K, Clapp DW, Zhang C, Peer CJ, Figg WD, Smith M, Glod J, Blakeley JO, Steinberg SM, Venzon DJ, Doyle LA, Widemann BC
N Engl J Med 2020 Apr 9;382(15):1430-1442. Epub 2020 Mar 18 doi: 10.1056/NEJMoa1912735. PMID: 32187457Free PMC Article
Neurofibromatosis type 1: a multidisciplinary approach to care.
Hirbe AC, Gutmann DH
Lancet Neurol 2014 Aug;13(8):834-43. doi: 10.1016/S1474-4422(14)70063-8. PMID: 25030515

Prognosis

Neurofibromatosis 2.
Hoa M, Slattery WH 3rd
Otolaryngol Clin North Am 2012 Apr;45(2):315-32, viii. doi: 10.1016/j.otc.2011.12.005. PMID: 22483819
Segmental neurofibromatosis and malignancy.
Dang JD, Cohen PR
Skinmed 2010 May-Jun;8(3):156-9. PMID: 21137621
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.
Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A
J Med Genet 2007 Feb;44(2):81-8. Epub 2006 Nov 14 doi: 10.1136/jmg.2006.045906. PMID: 17105749Free PMC Article
Neurofibromatosis type 2.
Evans DG, Sainio M, Baser ME
J Med Genet 2000 Dec;37(12):897-904. doi: 10.1136/jmg.37.12.897. PMID: 11106352Free PMC Article
Neurofibromatosis.
Frank-Stromborg M
Semin Oncol Nurs 1992 Nov;8(4):265-71. doi: 10.1016/0749-2081(92)90039-6. PMID: 1480857

Clinical prediction guides

Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use.
Bettegowda C, Upadhayaya M, Evans DG, Kim A, Mathios D, Hanemann CO; REiNS International Collaboration
Neurology 2021 Aug 17;97(7 Suppl 1):S91-S98. Epub 2021 Jul 6 doi: 10.1212/WNL.0000000000012436. PMID: 34230207Free PMC Article
Neurofibromatosis type 2 and related disorders.
Halliday D, Parry A, Evans DG
Curr Opin Oncol 2019 Nov;31(6):562-567. doi: 10.1097/CCO.0000000000000579. PMID: 31425178
Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview.
Miettinen MM, Antonescu CR, Fletcher CDM, Kim A, Lazar AJ, Quezado MM, Reilly KM, Stemmer-Rachamimov A, Stewart DR, Viskochil D, Widemann B, Perry A
Hum Pathol 2017 Sep;67:1-10. Epub 2017 May 24 doi: 10.1016/j.humpath.2017.05.010. PMID: 28551330Free PMC Article
Neurofibromatosis type 1.
North K
Am J Med Genet 2000 Summer;97(2):119-27. doi: 10.1002/1096-8628(200022)97:2<119::aid-ajmg3>3.0.co;2-3. PMID: 11180219
Neurofibromatosis type 1.
Legius E, Descheemaeker MJ, Fryns JP, Van den Berghe H
Genet Couns 1994;5(3):225-41. PMID: 7811422

Recent systematic reviews

Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis.
Lee TJ, Chopra M, Kim RH, Parkin PC, Barnett-Tapia C
Orphanet J Rare Dis 2023 Sep 14;18(1):292. doi: 10.1186/s13023-023-02911-2. PMID: 37710322Free PMC Article
A Systematic Review of Recent and Ongoing Clinical Trials in Patients With the Neurofibromatoses.
Acar S, Nieblas-Bedolla E, Armstrong AE, Hirbe AC
Pediatr Neurol 2022 Sep;134:1-6. Epub 2022 Jun 10 doi: 10.1016/j.pediatrneurol.2022.06.003. PMID: 35759947
Treatment for Brain Metastases: ASCO-SNO-ASTRO Guideline.
Vogelbaum MA, Brown PD, Messersmith H, Brastianos PK, Burri S, Cahill D, Dunn IF, Gaspar LE, Gatson NTN, Gondi V, Jordan JT, Lassman AB, Maues J, Mohile N, Redjal N, Stevens G, Sulman E, van den Bent M, Wallace HJ, Weinberg JS, Zadeh G, Schiff D
J Clin Oncol 2022 Feb 10;40(5):492-516. Epub 2021 Dec 21 doi: 10.1200/JCO.21.02314. PMID: 34932393
Mosaic Neurofibromatosis Type 1: A Systematic Review.
García-Romero MT, Parkin P, Lara-Corrales I
Pediatr Dermatol 2016 Jan-Feb;33(1):9-17. Epub 2015 Sep 4 doi: 10.1111/pde.12673. PMID: 26338194
Indications and contraindications of auditory brainstem implants: systematic review and illustrative cases.
Merkus P, Di Lella F, Di Trapani G, Pasanisi E, Beltrame MA, Zanetti D, Negri M, Sanna M
Eur Arch Otorhinolaryngol 2014 Jan;271(1):3-13. Epub 2013 Feb 13 doi: 10.1007/s00405-013-2378-3. PMID: 23404468

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