Cutaneous Neurofibroma Heterogeneity: Factors that Influence Tumor Burden in Neurofibromatosis Type 1.

Humans Neurofibromatosis 1 / genetics Quality of Life Tumor Burden Neurofibroma / genetics Skin Neoplasms / genetics
ECM GEM KO LOH MAPK/extracellular signal–regulated kinase kinase MEK MPNST NF1 cNF cutaneous neurofibroma extracellular matrix genetically engineered mouse knockout loss of heterozygosity malignant peripheral nerve sheath tumor neurofibromatosis type 1 pNF plexiform neurofibroma

Journal

The Journal of investigative dermatology
ISSN: 1523-1747
Titre abrégé: J Invest Dermatol
Pays: United States
ID NLM: 0426720

Informations de publication

Date de publication:
08 2023
Historique:
received: 10 09 2022
revised: 01 12 2022
accepted: 05 12 2022
medline: 18 7 2023
pubmed: 15 6 2023
entrez: 15 6 2023
Statut: ppublish

Résumé

Neurofibromatosis type 1 is one of the most common genetic disorders of the nervous system and predisposes patients to develop benign and malignant tumors. Cutaneous neurofibromas (cNFs) are NF1-associated benign tumors that affect nearly 100% of patients with NF1. cNFs dramatically reduce patients' QOL owing to their unaesthetic appearance, physical discomfort, and corresponding psychological burden. There is currently no effective drug therapy option, and treatment is restricted to surgical removal. One of the greatest hurdles for cNF management is the variability of clinical expressivity in NF1, resulting in intrapatient and interpatient cNF tumor burden heterogeneity, that is, the variability in the presentation and evolution of these tumors. There is growing evidence that a wide array of factors are involved in the regulation of cNF heterogeneity. Understanding the mechanisms underlying this heterogeneity of cNF at the molecular, cellular, and environmental levels can facilitate the development of innovative and personalized treatment regimens.

Identifiants

DOI: 10.1016/j.jid.2022.12.027 PMID: 37318402
pubmed: 37318402
pii: S0022-202X(23)01956-5
doi: 10.1016/j.jid.2022.12.027
pii:
doi:

Types de publication

Journal Article Review Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S.

Langues

eng

Sous-ensembles de citation

IM

Pagination

1369-1377

Subventions

Organisme : NCI NIH HHS
ID : U54 CA196519
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA166593
Pays : United States

Informations de copyright

Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.

Auteurs

Chunhui Jiang (C)

Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Renée M McKay (RM)

Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Sang Y Lee (SY)

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Carlos G Romo (CG)

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Jaishri O Blakeley (JO)

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Muzlifah Haniffa (M)

Biosciences Institute, Newcastle University, Newcastle Upon Tyne, United Kingdom; NIHR Newcastle Biomedical Research Center Dermatology, Newcastle University, Newcastle Upon Tyne, United Kingdom.

Eduard Serra (E)

Hereditary Cancer Group, Germans Trias i Pujol Research Institute (IGTP), Barcelona, Spain.

Matthew R Steensma (MR)

Center for Cancer and Cell Biology, Van Andel Research Institute, Grand Rapids, Michigan, USA.

David Largaespada (D)

Masonic Cancer Center, University of Minnesota, Minneapolis, Minnesota, USA; Division of Hematology and Oncology, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.

Lu Q Le (LQ)

Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas, USA; Simmons Comprehensive Cancer Center, University of Texas Southwestern Medical Center, Dallas, Texas, USA; Comprehensive Neurofibromatosis Clinic, University of Texas Southwestern Medical Center, Dallas, Texas, USA; Hamon Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA; O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas, Texas, USA. Electronic address: lu.le@utsouthwestern.edu.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Cutaneous Neurofibroma Heterogeneity: Factors...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Syndromes néoplasiques héréditaires › Neurofibromatoses › Neurofibromatose de type 1 › Cutaneous Neurofibroma Heterogeneity: Factors...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Mesures épidémiologiques › Démographie › État de santé › Qualité de vie › Cutaneous Neurofibroma Heterogeneity: Factors...
questionsmedicales.fr › Techniques d'investigation › Charge tumorale › Cutaneous Neurofibroma Heterogeneity: Factors...
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Neuropathies périphériques › Tumeurs du système nerveux périphérique › Tumeurs des gaines nerveuses › Neurofibrome › Cutaneous Neurofibroma Heterogeneity: Factors...
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Tumeurs cutanées › Cutaneous Neurofibroma Heterogeneity: Factors...