학술논문
Existing and Developing Preclinical Models for Neurofibromatosis Type 1-Related Cutaneous Neurofibromas.
Document Type
Academic Journal
Author
Staedtke V; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. Electronic address: vstaedt1@jhmi.edu.; Topilko P; Institut Mondor de Recherche Biomédicale (IMRB), Créteil, France.; Le LQ; Department of Dermatology, UT Southwestern Medical Center, Dallas, Texas, USA.; Grimes K; SPARK Program in Translational Research, Stanford University School of Medicine, Stanford, California, USA; Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, California, USA.; Largaespada DA; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.; Cagan RL; School of Cancer Sciences, University of Glasgow, Glasgow, United Kingdom.; Steensma MR; Center for Cancer and Cell Biology, Van Andel Research Institute, Grand Rapids, Michigan, USA; Helen DeVos Children's Hospital, Spectrum Health System, Grand Rapids, Michigan, USA; Michigan State University College of Human Medicine, Grand Rapids, Michigan, USA.; Stemmer-Rachamimov A; Department of Pathology and Center for Cancer Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Blakeley JO; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Rhodes SD; Division of Hematology-Oncology, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA; Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, Indiana, USA; Indiana University Melvin and Bren Simon Comprehensive Cancer Center, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Ly I; Stephen E. and Catherine Pappas Center for Neuro-Oncology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Romo CG; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Lee SY; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Serra E; Hereditary Cancer Group, Germans Trias i Pujol Research Institute (IGTP), Can Ruti Campus, Barcelona, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Source
Publisher: Elsevier Country of Publication: United States NLM ID: 0426720 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1747 (Electronic) Linking ISSN: 0022202X NLM ISO Abbreviation: J Invest Dermatol Subsets: MEDLINE
Subject
Language
English
Abstract
Neurofibromatosis type 1 (NF1) is caused by a nonfunctional copy of the NF1 tumor suppressor gene that predisposes patients to the development of cutaneous neurofibromas (cNFs), the skin tumor that is the hallmark of this condition. Innumerable benign cNFs, each appearing by an independent somatic inactivation of the remaining functional NF1 allele, form in nearly all patients with NF1. One of the limitations in developing a treatment for cNFs is an incomplete understanding of the underlying pathophysiology and limitations in experimental modeling. Recent advances in preclinical in vitro and in vivo modeling have substantially enhanced our understanding of cNF biology and created unprecedented opportunities for therapeutic discovery. We discuss the current state of cNF preclinical in vitro and in vivo model systems, including two- and three-dimensional cell cultures, organoids, genetically engineered mice, patient-derived xenografts, and porcine models. We highlight the models' relationship to human cNFs and how they can be used to gain insight into cNF development and therapeutic discovery.
(Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)
(Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)