Recurrent
Journal
HemaSphere
ISSN: 2572-9241
Titre abrégé: Hemasphere
Pays: United States
ID NLM: 101740619
Informations de publication
Date de publication:
Jan 2021
Jan 2021
Historique:
received:
01
07
2020
accepted:
27
10
2020
entrez:
28
12
2020
pubmed:
29
12
2020
medline:
29
12
2020
Statut:
epublish
Résumé
The glucocorticoid receptor NR3C1 is essential for steroid-induced apoptosis, and deletions of this gene have been recurrently identified at disease relapse for acute lymphoblastic leukemia (ALL) patients. Here, we demonstrate that recurrent NR3C1 inactivating aberrations-including deletions, missense, and nonsense mutations-are identified in 7% of pediatric T-cell ALL patients at diagnosis. These aberrations are frequently present in early thymic progenitor-ALL patients and relate to steroid resistance. Functional modeling of NR3C1 aberrations in pre-B ALL and T-cell ALL cell lines demonstrate that aberrations decreasing NR3C1 expression are important contributors to steroid resistance at disease diagnosis. Relative
Identifiants
pubmed: 33364552
doi: 10.1097/HS9.0000000000000513
pmc: PMC7755520
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e513Informations de copyright
Copyright © 2020 the Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Hematology Association.
Déclaration de conflit d'intérêts
The authors declare no competing interest.
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