ESPE Abstracts

Introduction: Delays in diagnosis of IC-GCTs in the paediatric age have been frequently reported, affecting outcomes and prognosis.

Aims: This study analysed clinical features of children with IC-GCTs treated at two European tertiary centres in the last 25 years. We retrospectively reviewed time lag between symptoms onset, radiological findings and definitive diagnosis of IC-GCT.

Methods: Presenting symptoms were assessed for each patient. Diagnostic intervals were classified as: total diagnostic interval (TDI), defined as the interval between symptom onset (including retrospective recall of symptoms) and definitive diagnosis of IC-GCT; patient interval (PI), between symptom onset and initial referral to a healthcare specialist; system interval (SI), between specialist evaluation and first brain MRI. They were compared to recurrence and survival rates (median follow-up of 78.9 months from diagnosis).

Results: We collected data of 55 pediatric patients (67.3% males, median age at diagnosis 12 years, IQR 9-16) of which 63.6% had germinomas, 14.5% teratomas, 12.7% mixed GCT and 3.6% yolk sac tumour. 10.9% of cases were metastatic at diagnosis. IC-GCTs were suprasellar (41.8%), pineal (36.4%), bifocal (12.7%). The most prevalent presenting symptoms were related to raised intracranial pressure (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, whereas all suprasellar GCTs with endocrinopathies. TDI ranged from 0 to 58.5 months. Eight patients (14.5%) with thicken pituitary stalk were diagnosed with IC-GCT after a median neuroradiological follow-up of 27 months (range 0.25–50). Pineal GCTs had the shortest TDI compared with other locations (P < 0.001, median 1 months). TDI>6months was observed in 47.3% of patients and was significantly associated with endocrine symptoms at diagnosis (P < 0.001) and not correlated with age, histology and metastatic disease at diagnosis. SI did not differ significantly among age groups and presence/absence of endocrinopathies. The longest PI (median 18 months, range 8-26.5) was found in those aged >11 years, in which suprasellar germinoma occurred more frequently (75%, P = 0.052). Five-year progression free survival and overall survival rates for all patients were 83.6% and 80%, respectively. Patients with TDI>6months showed the tendency towards lower rates of relapses (HR 0.35; P = 0.072). TDI>6months was not associated with different mortality rates (HR 0.39; P = 0.15).

Conclusion: Approximately half of our patients displayed a TDI>6months, mostly when endocrine deficiencies were presenting symptoms. Nevertheless, we did not find significant negative impact of delayed diagnosis on progression-free and overall survival.