Associations of clinical features in neurofibromatosis 1 (NF1)

ObjectiveTo present the current terminology and natural history of neurofibromatosis 1 (NF1) cutaneous neurofibromas (cNF).MethodsNF1 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in use for cNF as well as the clinical, histologic, and radiographic features of these tumors using published and unpublished data.ResultsNeurofibromas develop within nerves, soft tissue, and skin.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.ConclusionThe 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.

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Patterns of associations of clinical features in neurofibromatosis 1 (NF1)

Human Genetics ◽

10.1007/s00439-002-0871-7 ◽

2002 ◽

Vol 112 (3) ◽

pp. 289-297 ◽

Cited By ~ 32

Author(s):

Jacek Szudek ◽

D. Gareth Evans ◽

Jan M. Friedman

Keyword(s):

Clinical Features ◽

Neurofibromatosis 1

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Review Article : Clinical Features and Pathobiology of Neurofibromatosis 1

Journal of Child Neurology ◽

10.1177/088307380201700806 ◽

2002 ◽

Vol 17 (8) ◽

pp. 573-577 ◽

Cited By ~ 38

Author(s):

Bruce R. Korf

Keyword(s):

Clinical Features ◽

Review Article ◽

Neurofibromatosis 1

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Mast Cells in Human Cutaneous Neurofibromas: Density, Subtypes, and Association with Clinical Features in Neurofibromatosis 1

Dermatology ◽

10.1159/000517011 ◽

2021 ◽

pp. 1-11

Author(s):

Roope A. Kallionpää ◽

Kaisa Ahramo ◽

Eija Martikkala ◽

Elnaz Fazeli ◽

Pekka Haapaniemi ◽

...

Keyword(s):

Mast Cell ◽

Mast Cells ◽

Clinical Features ◽

Disease Burden ◽

Neurofibromatosis 1 ◽

Computer Assisted ◽

Unaffected Skin ◽

Comprehensive Characterization ◽

Cutaneous Neurofibromas

Background: Cutaneous neurofibromas (cNFs) are hallmarks of neurofibromatosis 1 (NF1) and cause the main disease burden in adults with NF1. Mast cells are a known component of cNFs. However, no comprehensive characterization of mast cells in cNFs is available, and their contributions to cNF growth and symptoms such as itch are not known. Methods: We collected 60 cNFs from ten individuals with NF1, studied their mast cell proteinase content, and compared the mast cell numbers to selected clinical features of the tumors and patients. The tumors were immunolabeled for the mast cell markers CD117, tryptase, and chymase, and the percentage of immunopositive cells was determined using computer-assisted methods. Results: The median proportions of positive cells were 5.5% (range 0.1–14.4) for CD117, 4.0% (1.2–7.0) for tryptase, and 5.0% (1.1–15.9) for chymase. The median densities of cells immunopositive for CD117, tryptase, and chymase were 280, 243, and 250 cells/mm2, respectively. Small tumors, growing tumors, and tumors from patients below the median age of 33 years displayed a high proportion of mast cells. Cells expressing both tryptase and chymase were the predominant mast cell type in cNFs, followed by cells expressing chymase only. Conclusion: The results highlight the abundance of mast cells in cNFs and that their number and subtypes clearly differ from those previously reported in unaffected skin.

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