Novel somatic and germline mutations in intracranial germ cell tumors and identification of potential therapeutic targets

摘要

Intracranial germ cell tumors (IGCTs) are a complex and heterogeneous group of rare brain tumors that resemble gonadal germ cell tumors with a predilection to arise in the pineal region. They have a peak incidence around puberty, are 5-8 fold more common in East Asian countries compared with Western countries, and are 3-4 fold more common in men than in women. Germino-mas, which account for two-thirds of IGCTs, usually respond well to treatment with radiotherapy but the outcomes of treatment for most non-germinomatous germ cell tumors (NGGCTs), which include teratomas, embryonal carcinomas, yolk sac tumors and choriocarcinomas, are generally poor despite intensive treatment with radiation therapy and chemotherapy. A major limitation to progress is the rarity of these tumors and the limited availability of tumor specimens for study.