Progress towards molecular-based management of childhood Langerhans cell histiocytosis.
Child
Genetic Markers
Histiocytosis, Langerhans-Cell
/ diagnosis
Humans
Imidazoles
/ therapeutic use
MAP Kinase Kinase 1
/ antagonists & inhibitors
Molecular Targeted Therapy
Mutation
Oximes
/ therapeutic use
Protein Kinase Inhibitors
/ therapeutic use
Proto-Oncogene Proteins B-raf
/ antagonists & inhibitors
Vemurafenib
/ therapeutic use
BRAFV600E
Biomarker
Circulating cell-free DNA
Histiocytoses
Langerhans cell histiocytosis
Targeted therapy
Journal
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
ISSN: 1769-664X
Titre abrégé: Arch Pediatr
Pays: France
ID NLM: 9421356
Informations de publication
Date de publication:
Jul 2019
Jul 2019
Historique:
received:
30
10
2018
revised:
13
05
2019
accepted:
30
05
2019
pubmed:
10
7
2019
medline:
21
1
2020
entrez:
9
7
2019
Statut:
ppublish
Résumé
Langerhans cell histiocytosis (LCH) is characterized by inflammatory lesions containing abundant CD1a+ CD207+ histiocytes that lead to the destruction of affected tissues. This disease has a remarkable pleiotropic clinical presentation and most commonly affects young children. Although the current mortality rate is very low for childhood LCH patients (<2%), reactivation frequently occurs after a long period of disease control and the rates of permanent complications and sequelae remain high. Advances in genomic sequencing technologies in this past decade have highlighted somatic molecular alterations responsible for the disease in around 80% of childhood LCH cases. More than half of these cases harbored the BRAF
Identifiants
pubmed: 31281037
pii: S0929-693X(19)30103-4
doi: 10.1016/j.arcped.2019.05.015
pii:
doi:
Substances chimiques
Genetic Markers
0
Imidazoles
0
Oximes
0
Protein Kinase Inhibitors
0
Vemurafenib
207SMY3FQT
BRAF protein, human
EC 2.7.11.1
Proto-Oncogene Proteins B-raf
EC 2.7.11.1
MAP Kinase Kinase 1
EC 2.7.12.2
MAP2K1 protein, human
EC 2.7.12.2
dabrafenib
QGP4HA4G1B
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
301-307Informations de copyright
Copyright © 2019 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.