Cutaneous neurofibromas: Current clinical and pathologic issues

Nicolas Ortonne, Pierre Wolkenstein, Jaishri Blakeley, Bruce Korf, Scott R. Plotkin, Vincent M. Riccardi, Douglas C. Miller, Susan Huson, Juha Peltonen, Andrew Rosenberg, Steven L. Carroll, Sharad Verma, Victor Mautner, Meena Upadhyaya, Anat Stemmer-Rachamimov

Research output: Contribution to journalArticle

Abstract

OBJECTIVE: To present the current terminology and natural history of neurofibromatosis 1 (NF1) cutaneous neurofibromas (cNF). METHODS: NF1 experts from various research and clinical backgrounds reviewed the terms currently in use for cNF as well as the clinical, histologic, and radiographic features of these tumors using published and unpublished data. RESULTS: Neurofibromas develop within nerves, soft tissue, and skin. The primary distinction between cNF and other neurofibromas is that cNF are limited to the skin whereas other neurofibromas may involve the skin, but are not limited to the skin. There are important cellular, molecular, histologic, and clinical features of cNF. Each of these factors is discussed in consideration of a clinicopathologic framework for cNF. CONCLUSION: The development of effective therapies for cNF requires formulation of diagnostic criteria that encompass the clinical and histologic features of these tumors. However, there are several areas of overlap between cNF and other neurofibromas that make distinctions between cutaneous and other neurofibromas more difficult, requiring careful deliberation with input across the multiple disciplines that encounter these tumors and ultimately, prospective validation. The ultimate goal of this work is to facilitate accurate diagnosis and meaningful therapeutics for cNF.

Original languageEnglish (US)
Pages (from-to)S5-S13
JournalNeurology
Volume91
Issue number2
DOIs
StatePublished - Jul 10 2018

Fingerprint

Neurofibroma
Skin
Neurofibromatosis 1
Nerve Tissue
Neoplasms
Terminology

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Ortonne, N., Wolkenstein, P., Blakeley, J., Korf, B., Plotkin, S. R., Riccardi, V. M., ... Stemmer-Rachamimov, A. (2018). Cutaneous neurofibromas: Current clinical and pathologic issues. Neurology, 91(2), S5-S13. https://doi.org/10.1212/WNL.0000000000005792

Cutaneous neurofibromas : Current clinical and pathologic issues. / Ortonne, Nicolas; Wolkenstein, Pierre; Blakeley, Jaishri; Korf, Bruce; Plotkin, Scott R.; Riccardi, Vincent M.; Miller, Douglas C.; Huson, Susan; Peltonen, Juha; Rosenberg, Andrew; Carroll, Steven L.; Verma, Sharad; Mautner, Victor; Upadhyaya, Meena; Stemmer-Rachamimov, Anat.

In: Neurology, Vol. 91, No. 2, 10.07.2018, p. S5-S13.

Research output: Contribution to journalArticle

Ortonne, N, Wolkenstein, P, Blakeley, J, Korf, B, Plotkin, SR, Riccardi, VM, Miller, DC, Huson, S, Peltonen, J, Rosenberg, A, Carroll, SL, Verma, S, Mautner, V, Upadhyaya, M & Stemmer-Rachamimov, A 2018, 'Cutaneous neurofibromas: Current clinical and pathologic issues', Neurology, vol. 91, no. 2, pp. S5-S13. https://doi.org/10.1212/WNL.0000000000005792
Ortonne N, Wolkenstein P, Blakeley J, Korf B, Plotkin SR, Riccardi VM et al. Cutaneous neurofibromas: Current clinical and pathologic issues. Neurology. 2018 Jul 10;91(2):S5-S13. https://doi.org/10.1212/WNL.0000000000005792
Ortonne, Nicolas ; Wolkenstein, Pierre ; Blakeley, Jaishri ; Korf, Bruce ; Plotkin, Scott R. ; Riccardi, Vincent M. ; Miller, Douglas C. ; Huson, Susan ; Peltonen, Juha ; Rosenberg, Andrew ; Carroll, Steven L. ; Verma, Sharad ; Mautner, Victor ; Upadhyaya, Meena ; Stemmer-Rachamimov, Anat. / Cutaneous neurofibromas : Current clinical and pathologic issues. In: Neurology. 2018 ; Vol. 91, No. 2. pp. S5-S13.
@article{9311637c16074fb2bbd4bbdc51ad5317,
title = "Cutaneous neurofibromas: Current clinical and pathologic issues",
abstract = "OBJECTIVE: To present the current terminology and natural history of neurofibromatosis 1 (NF1) cutaneous neurofibromas (cNF). METHODS: NF1 experts from various research and clinical backgrounds reviewed the terms currently in use for cNF as well as the clinical, histologic, and radiographic features of these tumors using published and unpublished data. RESULTS: Neurofibromas develop within nerves, soft tissue, and skin. The primary distinction between cNF and other neurofibromas is that cNF are limited to the skin whereas other neurofibromas may involve the skin, but are not limited to the skin. There are important cellular, molecular, histologic, and clinical features of cNF. Each of these factors is discussed in consideration of a clinicopathologic framework for cNF. CONCLUSION: The development of effective therapies for cNF requires formulation of diagnostic criteria that encompass the clinical and histologic features of these tumors. However, there are several areas of overlap between cNF and other neurofibromas that make distinctions between cutaneous and other neurofibromas more difficult, requiring careful deliberation with input across the multiple disciplines that encounter these tumors and ultimately, prospective validation. The ultimate goal of this work is to facilitate accurate diagnosis and meaningful therapeutics for cNF.",
author = "Nicolas Ortonne and Pierre Wolkenstein and Jaishri Blakeley and Bruce Korf and Plotkin, {Scott R.} and Riccardi, {Vincent M.} and Miller, {Douglas C.} and Susan Huson and Juha Peltonen and Andrew Rosenberg and Carroll, {Steven L.} and Sharad Verma and Victor Mautner and Meena Upadhyaya and Anat Stemmer-Rachamimov",
year = "2018",
month = "7",
day = "10",
doi = "10.1212/WNL.0000000000005792",
language = "English (US)",
volume = "91",
pages = "S5--S13",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "2",

}

TY - JOUR

T1 - Cutaneous neurofibromas

T2 - Current clinical and pathologic issues

AU - Ortonne, Nicolas

AU - Wolkenstein, Pierre

AU - Blakeley, Jaishri

AU - Korf, Bruce

AU - Plotkin, Scott R.

AU - Riccardi, Vincent M.

AU - Miller, Douglas C.

AU - Huson, Susan

AU - Peltonen, Juha

AU - Rosenberg, Andrew

AU - Carroll, Steven L.

AU - Verma, Sharad

AU - Mautner, Victor

AU - Upadhyaya, Meena

AU - Stemmer-Rachamimov, Anat

PY - 2018/7/10

Y1 - 2018/7/10

N2 - OBJECTIVE: To present the current terminology and natural history of neurofibromatosis 1 (NF1) cutaneous neurofibromas (cNF). METHODS: NF1 experts from various research and clinical backgrounds reviewed the terms currently in use for cNF as well as the clinical, histologic, and radiographic features of these tumors using published and unpublished data. RESULTS: Neurofibromas develop within nerves, soft tissue, and skin. The primary distinction between cNF and other neurofibromas is that cNF are limited to the skin whereas other neurofibromas may involve the skin, but are not limited to the skin. There are important cellular, molecular, histologic, and clinical features of cNF. Each of these factors is discussed in consideration of a clinicopathologic framework for cNF. CONCLUSION: The development of effective therapies for cNF requires formulation of diagnostic criteria that encompass the clinical and histologic features of these tumors. However, there are several areas of overlap between cNF and other neurofibromas that make distinctions between cutaneous and other neurofibromas more difficult, requiring careful deliberation with input across the multiple disciplines that encounter these tumors and ultimately, prospective validation. The ultimate goal of this work is to facilitate accurate diagnosis and meaningful therapeutics for cNF.

AB - OBJECTIVE: To present the current terminology and natural history of neurofibromatosis 1 (NF1) cutaneous neurofibromas (cNF). METHODS: NF1 experts from various research and clinical backgrounds reviewed the terms currently in use for cNF as well as the clinical, histologic, and radiographic features of these tumors using published and unpublished data. RESULTS: Neurofibromas develop within nerves, soft tissue, and skin. The primary distinction between cNF and other neurofibromas is that cNF are limited to the skin whereas other neurofibromas may involve the skin, but are not limited to the skin. There are important cellular, molecular, histologic, and clinical features of cNF. Each of these factors is discussed in consideration of a clinicopathologic framework for cNF. CONCLUSION: The development of effective therapies for cNF requires formulation of diagnostic criteria that encompass the clinical and histologic features of these tumors. However, there are several areas of overlap between cNF and other neurofibromas that make distinctions between cutaneous and other neurofibromas more difficult, requiring careful deliberation with input across the multiple disciplines that encounter these tumors and ultimately, prospective validation. The ultimate goal of this work is to facilitate accurate diagnosis and meaningful therapeutics for cNF.

UR - http://www.scopus.com/inward/record.url?scp=85070660480&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85070660480&partnerID=8YFLogxK

U2 - 10.1212/WNL.0000000000005792

DO - 10.1212/WNL.0000000000005792

M3 - Article

C2 - 29987130

AN - SCOPUS:85070660480

VL - 91

SP - S5-S13

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 2

ER -