Cutaneous neurofibromas Current clinical and pathologic issues

被引：96

作者：

Ortonne, Nicolas ^{[1
]}

Wolkenstein, Pierre ^{[2
]}

Blakeley, Jaishri O. ^{[3
]}

Korf, Bruce ^{[4
]}

Plotkin, Scott R. ^{[5
,6
]}

Riccardi, Vincent M. ^{[8
]}

Miller, Douglas C. ^{[9
]}

Huson, Susan ^{[10
]}

Peltonen, Juha ^{[11
]}

Rosenberg, Andrew ^{[12
]}

Carroll, Steven L. ^{[13
]}

Verma, Sharad K. ^{[3
]}

Mautner, Victor ^{[14
]}

Upadhyaya, Meena ^{[15
]}

Stemmer-Rachamimov, Anat ^{[7
]}

机构：

[1] Univ Paris Est Creteil, Henri Mondor Hosp, AP HP, French Referral Ctr Neurofibromatoses,Dept Pathol, Creteil, France

[2] Univ Paris Est Creteil, Henri Mondor Hosp, AP HP, French Referral Ctr Neurofibromatoses,Dept Dermat, Creteil, France

[3] Johns Hopkins Univ, Sch Med, Dept Neurol, Neurofibromatosis Therapuet Accelerat Program, Baltimore, MD 21205 USA

[4] Univ Alabama Birmingham, Birmingham, AL USA

[5] Massachusetts Gen Hosp, Ctr Canc, Boston, MA USA

[6] Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA

[7] Massachusetts Gen Hosp, Dept Pathol, Div Neuropathol, Boston, MA 02114 USA

[8] Neurofibromatosis Inst, La Crescenta, CA USA

[9] Univ Missouri, Sch Med, Dept Pathol & Anat Sci, Columbia, MO USA

[10] Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester Ctr Genom Med, Manchester, Lancs, England

[11] Univ Turku, Inst Biomed, Turku, Finland

[12] Univ Miami, Miller Sch Med, Jackson Mem Hosp, Dept Pathol & Lab Med, Coral Gables, FL 33124 USA

[13] Med Univ South Carolina, Dept Pathol & Lab Med, Charleston, SC 29425 USA

[14] Univ Hosp Hamburg Eppendorf, Clin & Polyclin Neurol, Hamburg, Germany

[15] Cardiff Univ, Inst Med Genet, Div Canc & Genet, Cardiff, S Glam, Wales

来源：

NEUROLOGY | 2018年 / 91卷

关键词：

QUALITY-OF-LIFE; GENOTYPE-PHENOTYPE CORRELATION; MAST-CELLS; NF1; PHENOTYPE; 4TH EDITION; SOFT-TISSUE; TYPE-1; TUMORS; MICROENVIRONMENT; CLASSIFICATION;

D O I：

10.1212/WNL.0000000000005792

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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in use for cNF as well as the clinical, histologic, and radiographic features of these tumors using published and unpublished data.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.

引用

页码：S5 / S13

页数：9

共 48 条

[1] Atypical Neurofibromas in Neurofibromatosis Type 1 are Premalignant Tumors [J].