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A Protocol for Rapid Post-mortem Cell Culture of Diffuse Intrinsic Pontine Glioma DIPG
Published on: March 7, 2017
Implications of deferred diagnosis of paediatric intracranial germ cell tumours
Cristina Partenope1,2, Gabriella Pozzobon1, Giovanna Weber1
1Department of Pediatrics, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Insights
Delayed diagnosis in pediatric intracranial germ cell tumors (IC-GCTs) is common, with over half experiencing a diagnostic interval greater than 6 months. However, this delay did not impact survival rates.
Area of Science:
- Pediatric Oncology
- Neuro-oncology
- Germ Cell Tumors
Background:
- Intracranial germ cell tumors (IC-GCTs) are rare but significant neoplasms in children.
- Understanding the diagnostic timeline and its impact on outcomes is crucial for improving patient care.
Purpose of the Study:
- To analyze the clinical features and diagnostic intervals of pediatric IC-GCTs.
- To investigate the relationship between the total diagnostic interval (TDI) and patient outcomes, including survival rates.
Main Methods:
- Retrospective analysis of a cohort of 55 children diagnosed with IC-GCTs.
- Review of clinical symptoms, clinic-radiological findings, and diagnostic timelines.
- Calculation of Total Diagnostic Interval (TDI) and comparison with survival data.
Main Results:
- The majority of tumors were germinomas, predominantly located in the suprasellar and pineal regions.
- Raised intracranial pressure (RICP) was the most common initial symptom, but endocrine dysfunctions developed in over half of patients by diagnosis.
- The median TDI was 4 months, with pineal GCTs having a shorter TDI than suprasellar GCTs.
- A TDI > 6 months was associated with endocrine presenting symptoms but not with increased relapse or mortality.
Conclusions:
- Approximately half of pediatric IC-GCT patients experienced a diagnostic delay exceeding 6 months, often presenting with endocrine deficits.
- A prolonged diagnostic interval (TDI > 6 months) was not found to be significantly associated with poorer progression-free or overall survival in this cohort.
Aims:
This study analysed the clinical features of a cohort of children with intracranial germ cell tumours (IC-GCTs). 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) endocrinopathies; (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 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 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 and 58.5 months (median 4 months). Pineal GCTs had the shortest TDI (median TDI 1 month versus 24 months in suprasellar GCTs, p < .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 the IC-GCT patients in this cohort had TDI > 6 months. These presented mostly with endocrine deficits. TDI > 6 months was not associated with increased relapse or mortality rates.
