AUTHOR=Yu Yongbo , Gao Chengwen , Chen Yuanbin , Wang Meilan , Zhang Jianfeng , Ma Xiaocheng , Liu Shuaihong , Yuan Hang , Li Zhiqiang , Niu Haitao 

TITLE=Copy Number Analysis Reveal Genetic Risks of Penile Cancer

JOURNAL=Frontiers in Oncology

VOLUME=10

YEAR=2020

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2020.596261

DOI=10.3389/fonc.2020.596261

ISSN=2234-943X

ABSTRACT=<sec><title>Objectives</title><p>To evaluate copy number alterations (CNAs) in genes associated with penile cancer (PeC) and determine their correlation and prognostic ability with PeC.</p></sec><sec><title>Methods</title><p>Whole-exome sequencing was performed for tumor tissue and matched normal DNA of 35 patients diagnosed with penile squamous cell carcinoma from 2011 to 2016. Somatic CNAs were detected using the Genome Analysis Toolkit (GATK). Retrospective clinical data were collected and analyzed. All the data were statistically analyzed using SPSS 16.0 software. The cancer-specific survival rates were estimated by Kaplan-Meier curves and compared with the log-rank test.</p></sec><sec><title>Results</title><p>CNAs in the <italic>MYCN</italic> gene was detected in 19 (amplification: 54.29%) patients. Other CNAs gene targets were <italic>FAK</italic> (amplification: 45.72%, deletion: 8.57%), <italic>TP53</italic> (amplification: 2.86%, deletion: 51.43%), <italic>TRKA</italic> (amplification: 34.29%, deletion: 2.86%), <italic>p75NTR</italic> (amplification: 5.71%, deletion: 42.86%), <italic>Miz-1</italic> (amplification: 14.29%, deletion: 20.00%), <italic>Max</italic> (amplification: 17.14%, deletion: 2.86%), <italic>Bmi1</italic> (amplification:14.29%, deletion: 48.57%), and <italic>MDM2</italic> (amplification: 5.71%, deletion: 45.72%). The CNAs in <italic>MYCN</italic> and <italic>FAK</italic> correlated significantly with patient prognosis (P&lt;0.05). The 3-year Recurrence-free survival rate was 87.10% among patients followed up. The 5-year survival rate of patients with <italic>MYCN</italic> amplification was 69.2%, compared to 94.4% in the non-amplification group. The 5-year survival rate of patients with <italic>FAK</italic> amplification was 65.6%, compared to 94.7% in the non-amplification group. The PPI network showed that <italic>TP53</italic> and <italic>MYCN</italic> might play meaningful functional roles in PeC.</p></sec><sec><title>Conclusion</title><p><italic>MYCN</italic> and <italic>FAK</italic> amplification and <italic>TP53</italic> deletion were apparent in PeC. <italic>MYCN</italic> and <italic>TP53</italic> were hub genes in PeC. <italic>MYCN</italic> and <italic>FAK</italic> amplification was also detected and analyzed, and the findings indicated that these two genes are predictors of poor prognosis in PeC.</p></sec>