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BACKGROUND A standard-of-care has not been established for the management of DS patients who develop primary CNS GCTs – the most common CNS neoplasm in DS – despite being more susceptible to treatment-related adverse events. METHODS A review of the English-language medical literature between 1960 and 2020 was conducted. RESULTS Thirty-one cases of CNS GCTs in DS patients (median nine-years-old; 21 males) were reported; the majority (23/31) originated from East Asia. Twelve had germinomas (39%), 12 had non-germinomatous germ cell tumors (NGGCTs) (39%), and seven had teratomas (22%). Four patients (13%) died from tumor progression (one germinoma versus three teratoma). Seven patients (23%) died from treatment-related complications (four germinoma versus three NGGCT). Of the germinoma patients, two died from chemotherapy-related sepsis, one from post-surgery cardiopulmonary failure, and one from Moyamoya following radiation-therapy (RT) only. Of the NGGCT patients, one died from chemotherapy-related sepsis, one from post-surgical infection, and one from pneumonia following surgery/chemotherapy/RT. Three-year overall survival (OS) was 58.1% for all patients, 52.5% for germinoma, 64.8% for NGGCT, and 60% for teratoma. Three-year OS for patients who received RT or chemotherapy was 63.6% and 59.6% respectively. Twenty patients (65%) remain alive (seven germinoma versus nine NGCCT versus four teratoma). Ten patients (32%) experienced serious treatment-related complications (five germinoma versus five NGGCT). CONCLUSIONS Patients with DS and CNS GCTs are at an increased risk of treatment-related complications. Therefore, a different therapeutic approach may need to be considered for this patient population in order to mitigate the treatment-related complications and long-term neurocognitive sequelae.

BACKGROUND: There is a well-known association between central nervous system (CNS) germ cell tumors (GCTs) and Down syndrome (DS). Current standard of care for CNS GCTs includes surgery, chemotherapy and radiation therapy (RT). We describe our institutional experience regarding the management of DS patients with CNS GCT. Additionally, we have performed a comprehensive literature review of CNS GCTs in DS patients. RESULTS: Patient # 1: An infant with posterior fossa immature teratoma is currently without any evidence of disease two years following gross total resection of the tumor without requiring any adjuvant therapy. Patient #2: A 17-year-old female with suprasellar CD30 positive embryonal carcinoma underwent subtotal resection of the tumor. RT was spared by using an induction chemotherapy regimen followed by myeloablative chemotherapy with autologous stem cell support. Moreover, she received six cycles of the anti-CD30 antibody-drug conjugate Brentuximab-vedotin. She is 16 months off therapy with no evidence of disease. Twenty-four cases were reported in the literature; diagnosed at 1 month-35 years of age (median 10 years). Of the 24 cases; 10 were germinoma (42%), 7 yolk sac tumor (29%), 3 immature teratoma (12.5%), 3 mature teratoma (12.5%), 1 embryonal carcinoma (4%). Five-year overall survival for all cases was 53%. Four patients died from infectious complications of chemotherapy while four died from tumor progression. CONCLUSIONS: Patients with DS have an increased risk of mortality from cerebrovascular disease following RT. Treatment-related toxicities should be considered while planning the management of GCTs in DS patients.