The Biology of Cutaneous Neurofibromas: Consensus Recommendations for Setting Research Priorities

Overview

Journal Neurology

Specialty Neurology

Date 2018 Jul 11

PMID 29987131

Citations 20

Authors

Jean-Philippe Brosseau

Dominique C Pichard

Eric H Legius

Pierre Wolkenstein

Robert M Lavker

Jaishri O Blakeley

Vincent M Riccardi

Sharad K Verma

Isaac Brownell

Lu Q Le

Affiliations

Soon will be listed here.

Abstract

Objective: A group of experts in dermatology, genetics, neuroscience, and regenerative medicine collaborated to summarize current knowledge on the defined factors contributing to cutaneous neurofibroma (cNF) development and to provide consensus recommendations for future research priorities to gain an improved understanding of the biology of cNF.

Methods: The group members reviewed published and unpublished data on cNF and related diseases via literature search, defined a set of key topic areas deemed critical in cNF pathogenesis, and developed recommendations in a series of consensus meetings.

Results: Five specific topic areas were identified as being relevant to providing an enhanced understanding of the biology of cNF: (1) defining the human cells of origin; (2) understanding the role of the microenvironment, focusing on neurons, mast cells, and fibroblasts; (3) defining the genetic and molecular differences between the cNFs, focusing on size and number; (4) understanding if sex hormones are critical for cNF development or progression; and (5) identifying challenges in establishing in vitro and in vivo models representing human cNF.

Conclusions: The complexity of cNF biology stems from its heterogeneity at multiple levels including genetic, spatial involvement, temporal development, and cellular composition. We propose a unified working model for cNF that builds a framework to address the key questions about cNF that, when answered, will provide the necessary understanding of cNF biology to allow meaningful development of therapies.

Citing Articles

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snRNA-seq of human cutaneous neurofibromas before and after selumetinib treatment implicates role of altered Schwann cell states, inter-cellular signaling, and extracellular matrix in treatment response.

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Nguyen H, Kohl E, Bade J, Eng S, Tosevska A, Al Shihabi A Cell Rep Methods. 2024; 4(5):100772.

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Yeo M, Koh Y, Park J, Kim K J Pers Med. 2023; 13(12).

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