Novel Two MRT Cell Lines Established from Multiple Sites of a Synchronous MRT Patient.
Base Sequence
Carcinogenesis
/ genetics
Cell Line, Tumor
Cell Proliferation
/ genetics
Cluster Analysis
DNA Methylation
/ genetics
Female
Gene Expression Regulation, Neoplastic
Humans
Infant
Neoplasms, Multiple Primary
/ genetics
Rhabdoid Tumor
/ diagnostic imaging
SMARCB1 Protein
/ genetics
Xenograft Model Antitumor Assays
DNA methylation analysis
Synchronous rhabdoid tumor
cell line
germline mutation
Journal
Anticancer research
ISSN: 1791-7530
Titre abrégé: Anticancer Res
Pays: Greece
ID NLM: 8102988
Informations de publication
Date de publication:
Nov 2020
Nov 2020
Historique:
received:
21
08
2020
revised:
15
09
2020
accepted:
16
09
2020
entrez:
28
10
2020
pubmed:
29
10
2020
medline:
5
11
2020
Statut:
ppublish
Résumé
Malignant rhabdoid tumor (MRT) is a rare, aggressive neoplasm found in young children, caused by inactivation of a single gene, SNF5 (INI1, SMARCB1). MRT cases with multifocal tumors at diagnosis are categorized as synchronous MRT, often with a germline mutation of SNF5. The aim of this study was to establish new models useful in clarifying the biological basis of synchronous MRT. We established two novel MRT cell lines, designated as KP-MRT-KS and KP-MRT-KSa, derived from different lesions and at a different time from a synchronous multifocal 7-month-old female MRT patient. Both cells showed typical morphology of MRT, with a compound genomic mutation in exons 2 and 5 of the SNF5 gene. The exon 2 mutation was found in the germline. These cell lines could serve as powerful tools for unveiling the molecular mechanism of refractory synchronous MRT.
Sections du résumé
BACKGROUND/AIM
OBJECTIVE
Malignant rhabdoid tumor (MRT) is a rare, aggressive neoplasm found in young children, caused by inactivation of a single gene, SNF5 (INI1, SMARCB1). MRT cases with multifocal tumors at diagnosis are categorized as synchronous MRT, often with a germline mutation of SNF5. The aim of this study was to establish new models useful in clarifying the biological basis of synchronous MRT.
MATERIALS AND METHODS
METHODS
We established two novel MRT cell lines, designated as KP-MRT-KS and KP-MRT-KSa, derived from different lesions and at a different time from a synchronous multifocal 7-month-old female MRT patient.
RESULTS
RESULTS
Both cells showed typical morphology of MRT, with a compound genomic mutation in exons 2 and 5 of the SNF5 gene. The exon 2 mutation was found in the germline.
CONCLUSION
CONCLUSIONS
These cell lines could serve as powerful tools for unveiling the molecular mechanism of refractory synchronous MRT.
Identifiants
pubmed: 33109553
pii: 40/11/6159
doi: 10.21873/anticanres.14636
doi:
Substances chimiques
SMARCB1 Protein
0
SMARCB1 protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
6159-6170Informations de copyright
Copyright© 2020, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.