Data included in this paper have been partially previously published as
meeting abstract titled “Delayed diagnosis of paediatric intracranial
germ cell tumours (IC-GCTs)” for the ESPE (European Society for
Paediatric Endocrinology) 59th annual meeting online on 22nd-26th
September 2021, available at
https://abstracts.eurospe.org/hrp/0094/eposters/.
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.
INTRODUCTION