Investigators from the Massachusetts General Hospital, Boston, studied the manifestations and time to diagnosis of 70 children with germ cell tumors (GCTs) treated between 1998 and 2012. The median duration of symptoms before diagnostic MRI was 6 months (range, 2 days to 72 months). Diagnosis was delayed (>6 months) in 38 (54%). The delay increased the risk of disseminated disease. Thirty patients (43%) had nongerminomatous tumors (NGGCTs) and 40 (57%) were diagnosed with pure germinomas (PGs). The majority of primary tumors were located in the suprasellar region (28% of NGGCT and 40% of PG) followed by the pineal region (23% of NGGCT and 33% of PG). All isolated pineal region tumors occurred in male patients; suprasellar tumors occurred in females in 61%.

Symptoms of GCT were headache (69%), nausea and vomiting (50%), polyuria and/or polydipsia in 59%, double vision (34%), visual field cuts or impaired visual acuity in 27%, poor growth (17%), and premature puberty in 14%. Pineal tumors presented with symptoms of hydrocephalus, whereas suprasellar tumors caused endocrinopathies. Ophthalmic symptoms occurred in all patients: pineal located tumors caused diplopia and Parinaud syndrome symptoms in 61%, and suprasellar tumors caused visual acuity and/or visual field limitations in 29%. Patients with GCT were evaluated by a broad spectrum of pediatric specialists, and patients with delayed diagnosis were seen by 2 or more physicians and subspecialists: a neurologist in 17%, ophthalmologist 27%, or endocrinologist 34%. An endocrinopathy, especially diabetes insipidus (in 50%), was diagnosed before the diagnosis of brain tumor. Progressive enlargement of the infundibulum led to biopsy, and diagnosis was confirmed by abnormal levels of human chorionic gonadotropin in the CSF and elevated serum alpha-fetoprotein. [1]

COMMENT. Bifocal germ cell tumors: synchronous tumors or metastases? Bifocal germ cell tumors in the suprasellar and pineal regions are reported in 23 (12.8%) of 181 patients with intracranial GCTs treated at Seoul National University Children's Hospital, Korea [2]. Eleven patients (47.8%) presenting with bifocal GCTs exhibited tumor seeding, compatible with bifocal lesions. Patients with bifocal germinomas show significantly shorter survival than those with germinomas from a single site. Bifocal GCTs may result from the metastatic spread of suprasellar or pineal GCTs and are a sign of disseminated disease and poor prognosis.