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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

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
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
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

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
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
Solares I, Viñal D, Morales-Conejo M, Rodriguez-Salas N, Feliu J
ESMO Open 2021 Aug;6(4):100223. Epub 2021 Aug 10 doi: 10.1016/j.esmoop.2021.100223. PMID: 34388689Free PMC Article
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
Cimino PJ, Gutmann DH
Handb Clin Neurol 2018;148:799-811. doi: 10.1016/B978-0-444-64076-5.00051-X. PMID: 29478615

Diagnosis

Murphy L, Andrawis M, Beatty P, Costa Blasco M, Doyle C, McFeely O, O'Mahony S, Wolinska A, Connolly M
Clin Exp Dermatol 2023 Sep 19;48(10):1192-1193. doi: 10.1093/ced/llad228. PMID: 37403671
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
Bhatti MT
Ophthalmology 2023 Aug;130(8):862. Epub 2022 Oct 8 doi: 10.1016/j.ophtha.2022.09.001. PMID: 36216646
Ly KI, Blakeley JO
Med Clin North Am 2019 Nov;103(6):1035-1054. doi: 10.1016/j.mcna.2019.07.004. PMID: 31582003
Hirbe AC, Gutmann DH
Lancet Neurol 2014 Aug;13(8):834-43. doi: 10.1016/S1474-4422(14)70063-8. PMID: 25030515

Therapy

Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574Free PMC Article
Wilson BN, John AM, Handler MZ, Schwartz RA
J Am Acad Dermatol 2021 Jun;84(6):1667-1676. Epub 2020 Aug 6 doi: 10.1016/j.jaad.2020.07.105. PMID: 32771543
Cui XW, Ren JY, Gu YH, Li QF, Wang ZC
Curr Gene Ther 2020;20(2):100-108. doi: 10.2174/1566523220666200806111451. PMID: 32767931
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
Hirbe AC, Gutmann DH
Lancet Neurol 2014 Aug;13(8):834-43. doi: 10.1016/S1474-4422(14)70063-8. PMID: 25030515

Prognosis

Pikis S, Mantziaris G, Dumot C, Xu Z, Sheehan J
Neurosurg Clin N Am 2023 Jul;34(3):455-462. Epub 2023 Apr 7 doi: 10.1016/j.nec.2023.02.010. PMID: 37210134
Phillips D, Auguste KI, Gupta N
Handb Clin Neurol 2020;169:253-259. doi: 10.1016/B978-0-12-804280-9.00016-0. PMID: 32553293
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
Miettinen M, Lasota J
Arch Pathol Lab Med 2006 Oct;130(10):1466-78. doi: 10.5858/2006-130-1466-GSTROM. PMID: 17090188
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

Purdenko TI, Delva MY, Ostrovskaya LI, Tarianyk KA, Sylenko HY, Pushko OO, Purdenko SV
Wiad Lek 2022;75(5 pt 2):1408-1414. doi: 10.36740/WLek202205231. PMID: 35758466
Halliday D, Parry A, Evans DG
Curr Opin Oncol 2019 Nov;31(6):562-567. doi: 10.1097/CCO.0000000000000579. PMID: 31425178
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
Lam AK
Turk Patoloji Derg 2015;31 Suppl 1:105-12. doi: 10.5146/tjpath.2015.01318. PMID: 26177321
Bizzarri C, Bottaro G
Horm Res Paediatr 2015;83(4):232-41. Epub 2015 Feb 5 doi: 10.1159/000369802. PMID: 25659607

Recent systematic reviews

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
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
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
Lloyd SKW, King AT, Rutherford SA, Hammerbeck-Ward CL, Freeman SRM, Mawman DJ, O'Driscoll M, Evans DG
Clin Otolaryngol 2017 Dec;42(6):1329-1337. Epub 2017 Apr 26 doi: 10.1111/coa.12882. PMID: 28371358
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

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