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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
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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

Albaghdadi M, Thibodeau ML, Lara-Corrales I
Dermatol Clin 2022 Jan;40(1):9-23. Epub 2021 Oct 22 doi: 10.1016/j.det.2021.08.002. PMID: 34799039
Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR; COUNCIL ON GENETICS; AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS
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Diagnosis

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
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Therapy

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
Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574Free PMC Article
Cui XW, Ren JY, Gu YH, Li QF, Wang ZC
Curr Gene Ther 2020;20(2):100-108. doi: 10.2174/1566523220666200806111451. PMID: 32767931
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Hirbe AC, Gutmann DH
Lancet Neurol 2014 Aug;13(8):834-43. doi: 10.1016/S1474-4422(14)70063-8. PMID: 25030515

Prognosis

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
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
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Clinical prediction guides

Bhandarkar AR, Bhandarkar S, Babovic-Vuksanovic D, Raghunathan A, Schwartz J, Spinner RJ
J Neurooncol 2024 Aug;169(1):147-153. Epub 2024 May 13 doi: 10.1007/s11060-024-04711-5. PMID: 38739187
North HJD, Lloyd SKW
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Hum Pathol 2017 Sep;67:1-10. Epub 2017 May 24 doi: 10.1016/j.humpath.2017.05.010. PMID: 28551330Free PMC Article
Rosmaninho A, Carvalho S, Oujo E, Horta M
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Recent systematic reviews

Han Y, Li B, Yu X, Liu J, Zhao W, Zhang D, Zhang J
J Neurol 2024 May;271(5):2379-2389. Epub 2024 Mar 19 doi: 10.1007/s00415-024-12301-8. PMID: 38502338
Vernet M, Ducrot S, Chaix Y
Dev Neuropsychol 2024 Apr-Jun;49(3):111-137. Epub 2024 Mar 12 doi: 10.1080/87565641.2024.2326151. PMID: 38469855
Paermentier L, Cano A, Chabrol B, Roy A
Dev Neuropsychol 2023 Jan-Feb;48(1):31-45. Epub 2023 Jan 3 doi: 10.1080/87565641.2022.2162902. PMID: 36594744
Crow AJD, Janssen JM, Marshall C, Moffit A, Brennan L, Kohler CG, Roalf DR, Moberg PJ
Am J Med Genet A 2022 Aug;188(8):2277-2292. Epub 2022 May 12 doi: 10.1002/ajmg.a.62773. PMID: 35546306Free PMC Article
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

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