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Genomic characterization of Chinese ovarian clear cell carcinoma identifies driver genes by whole exome sequencing

Authors :
Qin Yang
Cancan Zhang
Yuan Ren
Huan Yi
Tianjiao Luo
Fangliang Xing
Xuefeng Bai
Lining Cui
Linyan Zhu
Jun Ouyang
Pengcheng Jiang
Weirong Fan
Jianping Qiu
Fengmian Wang
Xin Xing
Zhigang Zhang
Xueli Zhang
Rong Zhang
Source :
Neoplasia: An International Journal for Oncology Research, Vol 22, Iss 9, Pp 399-430 (2020)
Publication Year :
2020
Publisher :
Elsevier, 2020.

Abstract

Little is known about the genetic alterations characteristic of ovarian clear cell carcinoma (OCCC). Our aim was to identify targetable genomic alterations in this type of cancer. Forty-two OCCC formalin-fixed, paraffin-embedded (FFPE) tissue samples were analyzed by whole-exome sequencing (WES), and 74 FFPE tissue samples underwent targeted sequencing (TS) to confirm the relevant driver mutations. Cell proliferation was assessed by cell counting kit-8 (CCK8) assays. In the 42 samples, ARID1A (64.3%) and PIK3CA (28.5%) were frequently mutated, as were PPP2R1A (11.9%), PTEN (7.1%) and KRAS (4.8%), which have been reported in previous OCCC studies. We also detected mutations in MUC4 (28.6%), MAGEE1 (19%), and ARID3A (16.7%); associations with these genes have not been previously reported. The functional protein-activated pathways were associated with proliferation and survival (including the PI3K/AKT, TP53, and ERBB2 pathways) in 83% of OCCCs and with chromatin remodeling in 71% of OCCCs. Patients with alterations in MAGEE1 (64% in the targeted sequencing cohort) had worse clinical outcomes (log-rank p

Details

Language :
English
ISSN :
14765586
Volume :
22
Issue :
9
Database :
Directory of Open Access Journals
Journal :
Neoplasia: An International Journal for Oncology Research
Publication Type :
Academic Journal
Accession number :
edsdoj.4d93f345fd684cc5afd354cdf32358ab
Document Type :
article
Full Text :
https://doi.org/10.1016/j.neo.2020.06.002