The frequency of NOTCH1 variants in T-acute lymphoblastic leukemia/lymphoma and chronic lymphocytic leukemia/small lymphocytic lymphoma among Jordanian patients.
Chronic lymphocytic leukemia
Jordan
NOTCH1
PEST domain
T-acute lymphoblastic leukemia
Journal
Annals of diagnostic pathology
ISSN: 1532-8198
Titre abrégé: Ann Diagn Pathol
Pays: United States
ID NLM: 9800503
Informations de publication
Date de publication:
Apr 2019
Apr 2019
Historique:
received:
16
12
2018
revised:
13
01
2019
accepted:
21
01
2019
pubmed:
6
2
2019
medline:
31
10
2019
entrez:
6
2
2019
Statut:
ppublish
Résumé
The transmembrane receptor NOTCH1 is thought to be associated with the development and progression of T-acute lymphoblastic leukemia (T-ALL)/T-lymphoblastic lymphoma (T-LBL) and chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL). The current study aimed to characterize NOTCH1 expression and elucidate the variants in the functional PEST domain of the receptor in T-ALL/LBL and CLL/SLL. The nuclear expression of NOTCH1 protein was detected in 25% and 5% of cases of T-ALL/LBL and CLL/SLL, respectively, whereas cytoplasmic expression was detected in 33.3% and 15% cases, respectively. The frequency of variants in T-ALL/LBL was 33%, whereas 40% of CLL/SLL cases possessed variants. Four novel variants were identified; three of which were non-synonymous and one common variant c.7280_7280delG between T-ALL/LBL and CLL/SLL cases. The previously described variant, c.7541_7542delCT, was detected in 3 cases of CLL/SLL. These results provide support for the contribution of NOTCH1 in the etiology of these types of cancers.
Identifiants
pubmed: 30718223
pii: S1092-9134(18)30389-7
doi: 10.1016/j.anndiagpath.2019.01.004
pii:
doi:
Substances chimiques
NOTCH1 protein, human
0
Receptor, Notch1
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
53-58Informations de copyright
Copyright © 2019 Elsevier Inc. All rights reserved.