LAUSR

Little information is available regarding the therapeutic efficacy of immune checkpoint inhibitors and the prediction of DNA damage-repair (DDR) genes in mixed testicular germ-cell tumors (TGCTs). Here we report a pretreated patient with metastatic mixed TGCT harboring variations of three important DDR genes - BRCA2, MSH6 and PMS2 - identified by next-generation sequencing using plasma-based circulating tumor DNA. He obtained stable clinical benefit from PD-1 blockade. At the latest follow-up, he had a progression-free survival of more than 28 months and had survived 6.75 years since diagnosis. To our knowledge, this case is the first report of long-term clinical outcome obtained from immune checkpoint inhibitor therapy in a pretreated patient with mixed metastatic TGCT harboring co-mutations in DDR genes.