Implications of Deferred Diagnosis of Paediatric Intracranial Germ Cell Tumours

Abstract

AIMS This study analysed the clinical features of children with intracranial germ cell tumours (IC-GCTs) treated at two European centres. We retrospectively reviewed timelag between symptoms onset, clinic-radiological findings, diagnosis and outcomes. METHODS Symptoms at diagnosis were divided into four groups: 1)raised intracranial pressure (RICP); 2)visual impairment; 3)endocrinopathy; 4)other. Total diagnostic interval (TDI), defined as the interval between symptom onset (including retrospective recall of symptoms) and definitive diagnosis of IC-GCT, was calculated and compared to survival rates. RESULTS Our cohort included 55 children with a median follow-up of 78.9 months (0.5-249.9). The majority (63.6%) had germinomas and 10.9% were metastatic at diagnosis. IC-GCTs were suprasellar (41.8%), pineal (36.4%), bifocal (12.7%) or in atypical sites (9.1%). The most common presenting symptoms were related to RICP (43.6%); however, by the time of tumour diagnosis, 50.9% of the patients had developed endocrine dysfunctions. All pineal GCTs manifested with RICP or visual impairment. All suprasellar GCTs presented with endocrinopathies. TDI ranged between 0.25-58.5 months (median 4 months). Pineal GCTs had the shortest TDI (median TDI 1 month versus 24 months in suprasellar GCTs, p<0.001). TDI >6 months was observed in 47.3% of patients and was significantly associated with endocrine presenting symptoms. No statistically significant difference was found in progression-free survival and overall survival between patients with TDI >6 months and with TDI 6 months. CONCLUSION Approximately half of our patients had TDI >6 months, mostly with endocrine deficiencies as presenting symptoms. TDI >6 months was not associated with increased relapse rate or mortality.