Related Experiment Video
Updated: May 9, 2026
A Protocol for Rapid Post-mortem Cell Culture of Diffuse Intrinsic Pontine Glioma (DIPG)
Published on: March 7, 2017
Delayed diagnosis in children with intracranial germ cell tumors
Roshan V Sethi1, Rose Marino, Andrzej Niemierko
1Harvard Medical School, Massachusetts General Hospital, Boston, MA.
Insights
Delayed diagnosis of germ cell tumors (GCTs) is common, even with specialist care. This delay increases the risk of GCTs spreading, impacting patient outcomes.
Area of Science:
- Pediatric Oncology
- Neuro-oncology
- Oncology
Background:
- Germ cell tumors (GCTs) can present with diverse symptoms.
- Timely diagnosis is crucial for effective GCT treatment.
- Varied presentations can lead to diagnostic delays.
Purpose of the Study:
- To review symptoms and provider history in patients with intracranial GCTs.
- To highlight the varied manifestations of GCTs.
- To assess the impact of delayed diagnosis on GCT patient outcomes.
Main Methods:
- Retrospective review of 70 patients with intracranial GCTs (1998-2012).
- Analysis of symptom onset to diagnostic imaging time.
- Definition of diagnostic delay as ≥ 6 months.
Main Results:
- 54% of patients experienced a diagnostic delay (median 6 months).
- Delayed diagnosis was associated with a higher likelihood of disseminated disease (34% vs 6%).
- Patients with delayed diagnosis saw more physicians, including multiple specialists.
Conclusions:
- A significant number of GCT patients face diagnostic delays, despite specialist consultations.
- Delayed diagnosis in GCT patients elevates the risk of disease dissemination.
- Earlier recognition of GCT symptoms is critical to prevent advanced disease.
Objective:
To review symptoms and provider history in a large cohort of patients with germ cell tumors (GCTs) to highlight the variety of manifestations and assess the effect of delayed diagnosis on outcomes.
Study Design:
Patients treated for intracranial pure germinoma and nongerminomatous GCTs at Massachusetts General Hospital between 1998 and 2012 were included (n = 70). The primary outcome was time from onset of symptoms to diagnostic imaging. Delay was defined as an interval of ≥ 6 months.
Results:
The median duration of symptoms before diagnostic magnetic resonance imaging was 6 months (range, 2 days to 72 months). Thirty-eight of the 70 patients (54%) had a delayed diagnosis. Patients with suprasellar tumors presented with symptoms related to endocrinopathies, and patients with pineal region tumors presented with symptoms related to hydrocephalus. Most of the patients were evaluated by a general pediatrician (49%) and/or pediatric subspecialists (66%) before diagnosis. Patients with delayed diagnosis saw a greater number of physicians before diagnosis (P = .006). The majority of patients (63%) with delayed diagnosis were seen by 2 or more physicians, and many (40%) were seen by 2 or more subspecialists. Progression-free survival was similar in the patients with delayed diagnosis and those without delayed diagnosis (P = .90), but the former were more likely to present with disseminated disease at diagnosis (34% vs 6%; P = .007).
Conclusion:
A significant proportion of patients with GCT experience a delay in time to diagnosis, in some cases despite evaluation by general pediatricians and specialists. This delay increases the risk of disseminated disease.
