Exome sequencing identifies new somatic alterations and mutation patterns of tongue squamous cell carcinoma in a Chinese population.
Animals
Asian People
/ genetics
Carcinoma, Squamous Cell
/ genetics
DNA Copy Number Variations
DNA-Binding Proteins
/ genetics
Exome
/ genetics
Female
Genes, Tumor Suppressor
Humans
Immunohistochemistry
Lymphatic Metastasis
Male
Mice
Mice, Inbred BALB C
MicroRNAs
/ genetics
Mutation
Neoplasm Recurrence, Local
Oligonucleotide Array Sequence Analysis
Oncogenes
/ genetics
Tongue
/ metabolism
Tongue Neoplasms
/ genetics
Trans-Activators
/ genetics
Exome Sequencing
ZNF16
exome sequencing
miR-585-5p
mutation
tongue squamous cell carcinoma
Journal
The Journal of pathology
ISSN: 1096-9896
Titre abrégé: J Pathol
Pays: England
ID NLM: 0204634
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
02
09
2019
revised:
08
04
2020
accepted:
07
05
2020
pubmed:
21
5
2020
medline:
18
12
2020
entrez:
21
5
2020
Statut:
ppublish
Résumé
Tongue squamous cell carcinoma (TSCC) is an aggressive group of tumors characterized by high rates of regional lymph node metastasis and local recurrence. Emerging evidence has revealed genetic variations of TSCC across different geographical regions due to the impact of multiple risk factors such as chewing betel-quid. However, we know little of the mutational processes of TSCC in the Chinese population without the history of chewing betel-quid/tobacco. To explore the mutational spectrum of this disease, we performed whole-exome sequencing of sample pairs, comprising tumors and normal tissue, from 82 TSCC patients. In addition to identifying seven previously known TSCC-associated genes (TP53, CDKN2A, PIK3CA, NOTCH1, ASXL1, USH2A, and CSMD3), the analysis revealed six new genes (GNAQ, PRG4, RP1, ZNF16, NBEA, and PTPRC) that had not been reported previously in TSCC. Our in vitro experiments identified ZNF16 for the first time as a solid tumor associated gene to promote malignancy of TSCC cells. We also identified a microRNA (miR-585-5p) encoded by the 5q35.1 region and characterized it as a tumor suppressor by targeting SOX9. At least one non-silent mutation of genes involved in the 10 canonical oncogenic pathways (Notch, RTK-RAS, PI3K, Wnt, Cell cycle, p53, Myc, Hippo, TGFβ, and Nrf2) was found in 82.9% of cases. Collectively, our data extend the spectrum of TSCC mutations and define novel diagnosis markers and potential clinical targets for TSCC. © 2020 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Substances chimiques
DNA-Binding Proteins
0
MIRN585 microRNA, human
0
MicroRNAs
0
Trans-Activators
0
ZNF16 protein, human
0
ZNF266 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
353-364Informations de copyright
© 2020 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
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