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Neurofibroma

MedGen UID:
45058
Concept ID:
C0027830
Neoplastic Process
Synonym: Neurofibromas
SNOMED CT: Neurofibroma (404029005); Benign neurofibroma (1156930004)
 
Monarch Initiative: MONDO:0016755
Orphanet: ORPHA252183

Definition

A rare benign peripheral nerve sheath tumor characterized by a well-demarcated intraneural or diffusely infiltrative extraneural space-occupying lesion consisting of Schwann cells, perineurial-like cells, and fibroblasts. It presents as a cutaneous nodule, a circumscribed mass in a peripheral nerve, a plexiform enlargement of a major nerve trunk, or with diffuse but localized involvement of skin and subcutaneous tissue. Multiple neurofibromas are typically associated with neurofibromatosis 1. Malignant transformation occurs almost exclusively in plexiform neurofibromas and neurofibromas of major nerves. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeurofibroma
Follow this link to review classifications for Neurofibroma in Orphanet.

Professional guidelines

PubMed

Ly KI, Blakeley JO
Med Clin North Am 2019 Nov;103(6):1035-1054. doi: 10.1016/j.mcna.2019.07.004. PMID: 31582003
Ottenhausen M, Ntoulias G, Bodhinayake I, Ruppert FH, Schreiber S, Förschler A, Boockvar JA, Jödicke A
Neurosurg Rev 2019 Jun;42(2):371-388. Epub 2018 Feb 17 doi: 10.1007/s10143-018-0957-x. PMID: 29455369
Ferner RE, Gutmann DH
Handb Clin Neurol 2013;115:939-55. doi: 10.1016/B978-0-444-52902-2.00053-9. PMID: 23931823

Recent clinical studies

Etiology

Armstrong AE, Belzberg AJ, Crawford JR, Hirbe AC, Wang ZJ
BMC Cancer 2023 Jun 16;23(1):553. doi: 10.1186/s12885-023-10996-y. PMID: 37328781Free PMC Article
Gross AM, Glassberg B, Wolters PL, Dombi E, Baldwin A, Fisher MJ, Kim A, Bornhorst M, Weiss BD, Blakeley JO, Whitcomb P, Paul SM, Steinberg SM, Venzon DJ, Martin S, Carbonell A, Heisey K, Therrien J, Kapustina O, Dufek A, Derdak J, Smith MA, Widemann BC
Neuro Oncol 2022 Nov 2;24(11):1978-1988. doi: 10.1093/neuonc/noac109. PMID: 35467749Free PMC Article
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
Belakhoua SM, Rodriguez FJ
Neurosurgery 2021 Feb 16;88(3):443-456. doi: 10.1093/neuros/nyab021. PMID: 33588442Free PMC Article
Fisher MJ, Shih CS, Rhodes SD, Armstrong AE, Wolters PL, Dombi E, Zhang C, Angus SP, Johnson GL, Packer RJ, Allen JC, Ullrich NJ, Goldman S, Gutmann DH, Plotkin SR, Rosser T, Robertson KA, Widemann BC, Smith AE, Bessler WK, He Y, Park SJ, Mund JA, Jiang L, Bijangi-Vishehsaraei K, Robinson CT, Cutter GR, Korf BR; Neurofibromatosis Clinical Trials Consortium, Blakeley JO, Clapp DW
Nat Med 2021 Jan;27(1):165-173. Epub 2021 Jan 13 doi: 10.1038/s41591-020-01193-6. PMID: 33442015Free PMC Article

Diagnosis

Shakrawal N, Chouhan M, Solanki B
J Laryngol Otol 2022 Jun;136(6):473-478. Epub 2021 Dec 15 doi: 10.1017/S0022215121004126. PMID: 34906268
Harjpal PL, Kovela RK
Pan Afr Med J 2021;39:146. Epub 2021 Jun 23 doi: 10.11604/pamj.2021.39.146.30169. PMID: 34527162Free PMC Article
Min HJ, Kim KS
J Craniofac Surg 2017 Oct;28(7):1780-1783. doi: 10.1097/SCS.0000000000003748. PMID: 28834833
Woertler K
Semin Musculoskelet Radiol 2010 Nov;14(5):547-58. Epub 2010 Nov 11 doi: 10.1055/s-0030-1268073. PMID: 21072731
Korf BR
Am J Med Genet 1999 Mar 26;89(1):31-7. doi: 10.1002/(sici)1096-8628(19990326)89:1<31::aid-ajmg7>3.0.co;2-w. PMID: 10469434

Therapy

Armstrong AE, Belzberg AJ, Crawford JR, Hirbe AC, Wang ZJ
BMC Cancer 2023 Jun 16;23(1):553. doi: 10.1186/s12885-023-10996-y. PMID: 37328781Free PMC Article
Anderson MK, Johnson M, Thornburg L, Halford Z
Ann Pharmacother 2022 Jun;56(6):716-726. Epub 2021 Sep 18 doi: 10.1177/10600280211046298. PMID: 34541874
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
Dombi E, Baldwin A, Marcus LJ, Fisher MJ, Weiss B, Kim A, Whitcomb P, Martin S, Aschbacher-Smith LE, Rizvi TA, Wu J, Ershler R, Wolters P, Therrien J, Glod J, Belasco JB, Schorry E, Brofferio A, Starosta AJ, Gillespie A, Doyle AL, Ratner N, Widemann BC
N Engl J Med 2016 Dec 29;375(26):2550-2560. doi: 10.1056/NEJMoa1605943. PMID: 28029918Free PMC Article

Prognosis

Brown R
Curr Oncol Rep 2023 Dec;25(12):1409-1417. Epub 2023 Oct 31 doi: 10.1007/s11912-023-01451-z. PMID: 37906356
Flint AC, Mitchell DK, Angus SP, Smith AE, Bessler W, Jiang L, Mang H, Li X, Lu Q, Rodriguez B, Sandusky GE, Masters AR, Zhang C, Dang P, Koenig J, Johnson GL, Shen W, Liu J, Aggarwal A, Donoho GP, Willard MD, Bhagwat SV, Clapp DW, Rhodes SD
Clin Cancer Res 2023 Sep 1;29(17):3438-3456. doi: 10.1158/1078-0432.CCR-22-2854. PMID: 37406085
Datta NK, Das KP, Aish PK, Datta M, Banik SK, Sen SK, Chowdhury RM
Mymensingh Med J 2023 Jan;32(1):135-143. PMID: 36594313
Zhang L, Jiang J, Hu C, Yang H, Deng P, Li Y
Am J Med Sci 2018 Jul;356(1):79-83. Epub 2017 Dec 24 doi: 10.1016/j.amjms.2017.12.005. PMID: 30049332
Charu V, Cimino-Mathews A
Semin Diagn Pathol 2017 Sep;34(5):420-426. Epub 2017 May 27 doi: 10.1053/j.semdp.2017.05.011. PMID: 28647116

Clinical prediction guides

Fisher MJ, Shih CS, Rhodes SD, Armstrong AE, Wolters PL, Dombi E, Zhang C, Angus SP, Johnson GL, Packer RJ, Allen JC, Ullrich NJ, Goldman S, Gutmann DH, Plotkin SR, Rosser T, Robertson KA, Widemann BC, Smith AE, Bessler WK, He Y, Park SJ, Mund JA, Jiang L, Bijangi-Vishehsaraei K, Robinson CT, Cutter GR, Korf BR; Neurofibromatosis Clinical Trials Consortium, Blakeley JO, Clapp DW
Nat Med 2021 Jan;27(1):165-173. Epub 2021 Jan 13 doi: 10.1038/s41591-020-01193-6. PMID: 33442015Free PMC Article
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
Liao CP, Booker RC, Brosseau JP, Chen Z, Mo J, Tchegnon E, Wang Y, Clapp DW, Le LQ
J Clin Invest 2018 Jul 2;128(7):2848-2861. Epub 2018 May 21 doi: 10.1172/JCI99424. PMID: 29596064Free PMC Article
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
Dombi E, Baldwin A, Marcus LJ, Fisher MJ, Weiss B, Kim A, Whitcomb P, Martin S, Aschbacher-Smith LE, Rizvi TA, Wu J, Ershler R, Wolters P, Therrien J, Glod J, Belasco JB, Schorry E, Brofferio A, Starosta AJ, Gillespie A, Doyle AL, Ratner N, Widemann BC
N Engl J Med 2016 Dec 29;375(26):2550-2560. doi: 10.1056/NEJMoa1605943. PMID: 28029918Free PMC Article

Recent systematic reviews

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
Fassola I, Wenzke L, Ertel W, Krasnici S
J Hand Surg Eur Vol 2019 Nov;44(9):925-931. Epub 2019 Jun 2 doi: 10.1177/1753193419852118. PMID: 31156019
Alhatem A, Patel N, Lambert WC, Heller DS
J Low Genit Tract Dis 2019 Jul;23(3):235-240. doi: 10.1097/LGT.0000000000000478. PMID: 31149956
Yamanaka R, Hayano A
World Neurosurg 2017 Aug;104:713-722. Epub 2017 May 19 doi: 10.1016/j.wneu.2017.05.066. PMID: 28532923
Bernier A, Larbrisseau A, Perreault S
Pediatr Neurol 2016 Jul;60:24-29.e1. Epub 2016 Mar 19 doi: 10.1016/j.pediatrneurol.2016.03.003. PMID: 27212418

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