A new research recently has discovered some key gene mutations that drive testicular germ cell tumors(TGCTs), and identified the key resistance genes which cause this cancer. It is the first time to apply the latest gene sequencing technology to look for the related details of TGCTs which is the most common cancer in young male. This study was published in Nature Communications.

Testicular germ cell tumors are the most common cancer affecting young men, with a mean age at diagnosis of 36 years. The main TGCT histologies are seminomas, which resemble undifferentiated primary germ cells, and non-seminomas, which show differing degrees of differentiation.

Overall, TGCTs are markedly aneuploid with recurring gain of chromosomes 7, 8, 21, 22 and X. In addition, gain of chromosomal material from 12p is noted in virtually all cases, with genomic amplification and overexpression of genes in the 12p11.2-p12.1 region reported in ~10% of TGCTs.

In this study , scientists perform whole-exome sequencing(WES) of 42 TGCTs to comprehensively study the cancer’s mutational profile. The mutation rate is uniformly low in all of the rumors as compared with common cancers, consistent with the embryological origin of TGCT. In addition to expected copy number gain of chromosome 12p and mutation of KIT, they identify recurrent mutations in the tumour suppressor gene CDC27. Copy number analysis reveals recurring amplification of the spermatocyte development gene FSIP2 and a 0.4 Mb region at Xq28.

Their findings provide further insights into genes involved in the development and progression of TGCT.