U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Plexiform neurofibroma

MedGen UID:
64640
Concept ID:
C0206728
Neoplastic Process
Synonyms: Elephantiasis Neuromatoses; Elephantiasis Neuromatosis; Neurofibroma, Plexiform; Neurofibromas, Plexiform; Neuroma, Plexiform; Neuromas, Plexiform; Pachydermatocele; Pachydermatoceles; Plexiform Neurofibroma; Plexiform Neurofibromas; Plexiform Neuroma; Plexiform Neuromas; Tumor Royale
SNOMED CT: Plexiform neurofibroma (403818001); Plexiform neurofibroma (41252002); Plexiform neuroma (41252002)
 
HPO: HP:0009732
Monarch Initiative: MONDO:0003304

Definition

A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Plexiform neurofibroma

Conditions with this feature

Neurofibromatosis, type 1
MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease.
Neurofibromatosis, familial spinal
MedGen UID:
320296
Concept ID:
C1834235
Disease or Syndrome
Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1; 162200), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by Burkitt Wright et al., 2013).
Neurofibromatosis-Noonan syndrome
MedGen UID:
419089
Concept ID:
C2931482
Disease or Syndrome
A variant of neurofibromatosis type 1 characterized by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity.
Mismatch repair cancer syndrome 1
MedGen UID:
1748029
Concept ID:
C5399763
Disease or Syndrome
Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.
Chromosome 17q11.2 deletion syndrome, 1.4Mb
MedGen UID:
1726802
Concept ID:
C5401456
Disease or Syndrome
Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).

Professional guidelines

PubMed

Brown R
Curr Oncol Rep 2023 Dec;25(12):1409-1417. Epub 2023 Oct 31 doi: 10.1007/s11912-023-01451-z. PMID: 37906356
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
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

Brown R
Curr Oncol Rep 2023 Dec;25(12):1409-1417. Epub 2023 Oct 31 doi: 10.1007/s11912-023-01451-z. PMID: 37906356
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
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
Tasli H, Gokgoz MC, Karakoc O
J Craniofac Surg 2020 Sep;31(6):e555-e560. doi: 10.1097/SCS.0000000000006526. PMID: 32604279

Diagnosis

Fisher MJ, Blakeley JO, Weiss BD, Dombi E, Ahlawat S, Akshintala S, Belzberg AJ, Bornhorst M, Bredella MA, Cai W, Ferner RE, Gross AM, Harris GJ, Listernick R, Ly I, Martin S, Mautner VF, Salamon JM, Salerno KE, Spinner RJ, Staedtke V, Ullrich NJ, Upadhyaya M, Wolters PL, Yohay K, Widemann BC
Neuro Oncol 2022 Nov 2;24(11):1827-1844. doi: 10.1093/neuonc/noac146. PMID: 35657359Free PMC Article
Belakhoua SM, Rodriguez FJ
Neurosurgery 2021 Feb 16;88(3):443-456. doi: 10.1093/neuros/nyab021. PMID: 33588442Free 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
Woertler K
Semin Musculoskelet Radiol 2010 Nov;14(5):547-58. Epub 2010 Nov 11 doi: 10.1055/s-0030-1268073. PMID: 21072731
Clarke B, Essa A, Chetty R
Int J Surg Pathol 2002 Jan;10(1):69-73. doi: 10.1177/106689690201000112. PMID: 11927974

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
Gross AM, Dombi E, Wolters PL, Baldwin A, Dufek A, Herrera K, Martin S, Derdak J, Heisey KS, Whitcomb PM, Steinberg SM, Venzon DJ, Fisher MJ, Kim A, Bornhorst M, Weiss BD, Blakeley JO, Smith MA, Widemann BC
Neuro Oncol 2023 Oct 3;25(10):1883-1894. doi: 10.1093/neuonc/noad086. PMID: 37115514Free 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

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: 37406085Free PMC Article
Kershner LJ, Choi K, Wu J, Zhang X, Perrino M, Salomonis N, Shern JF, Ratner N
JCI Insight 2022 Sep 22;7(18) doi: 10.1172/jci.insight.154513. PMID: 36134665Free PMC Article
Fangusaro J, Onar-Thomas A, Young Poussaint T, Wu S, Ligon AH, Lindeman N, Banerjee A, Packer RJ, Kilburn LB, Goldman S, Pollack IF, Qaddoumi I, Jakacki RI, Fisher PG, Dhall G, Baxter P, Kreissman SG, Stewart CF, Jones DTW, Pfister SM, Vezina G, Stern JS, Panigrahy A, Patay Z, Tamrazi B, Jones JY, Haque SS, Enterline DS, Cha S, Fisher MJ, Doyle LA, Smith M, Dunkel IJ, Fouladi M
Lancet Oncol 2019 Jul;20(7):1011-1022. Epub 2019 May 28 doi: 10.1016/S1470-2045(19)30277-3. PMID: 31151904Free 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

Clinical prediction guides

Kershner LJ, Choi K, Wu J, Zhang X, Perrino M, Salomonis N, Shern JF, Ratner N
JCI Insight 2022 Sep 22;7(18) doi: 10.1172/jci.insight.154513. PMID: 36134665Free 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
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
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

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
Ho JD, Ho JAS, Ruddock R, Spencer SA
Am J Dermatopathol 2022 Dec 1;44(12):904-912. doi: 10.1097/DAD.0000000000002322. PMID: 36395447
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
Hwang J, Yoon HM, Lee BH, Kim PH, Kim KW
Neurology 2022 Mar 1;98(9):e938-e946. Epub 2022 Jan 11 doi: 10.1212/WNL.0000000000013296. PMID: 35017312
Tovmassian D, Abdul Razak M, London K
Int J Surg Oncol 2016;2016:6162182. Epub 2016 Dec 12 doi: 10.1155/2016/6162182. PMID: 28058117Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...