Testicular germ cell tumors are not the most frequent of cancers diagnosed in the daily routine of most Pathology Departments. They are quite heterogeneous, with several mimickers and pitfalls, requiring observation by experienced pathologists, since accurate histopathologic characterization is critical for proper classification, prognostication and staging.
The pathobiology of testicular germ cell tumors is quite related to embryonic and germ cell development. Contrarily to several somatic cancers of adulthood, the tumor mutational burden in these tumors is low. On the contrary, the impact of epigenetics on the genesis and phenotype switch of testicular germ cell tumors is strong.
Put together, combining precise histopathologic characterization with epigenetic biomarkers and input from developmental biology will most likely result in advancing clinically relevant biomarkers of this disease. In this presentation, the most recent advancements in biomarkers for testicular germ cell tumors will be presented, emerging from the combination of pathology, epigenetics and developmental biology. These will include biomarkers making their way to the clinical setting, such as the serum microRNA-371~373 cluster, as well as those still being tested in in vitro and in vivo models of germ cell tumors. Settings discussed will include the full spectrum of testicular germ cell tumors, from biomarkers for early diagnosis and follow-up of stage I disease, to detection of teratoma or prediction of cisplatin resistance.