Pediatr Blood Cancer. 2025 Oct 11:e32098. doi: 10.1002/pbc.32098. Online ahead of print.
ABSTRACT
BACKGROUND: Intracranial germ cell tumors (ICGCTs) represent a rare subset of neoplasms with notably higher incidence in Asian cohorts compared to Western counterparts. Diagnostic delays in ICGCT, frequently associated with endocrine presentations, have previously been documented. However, factors contributing to delays, as well as the implications for clinical outcomes, remain insufficiently elucidated. This study aims to evaluate presentations, diagnostic intervals, and long-term endocrine sequelae in children with ICGCT.
METHODS: This retrospective cohort study included all children diagnosed with ICGCT from 2008 to 2023 in Hong Kong. Clinical, pathological, and endocrine data were collected with treatment outcomes and survival analyzed. Prolonged diagnostic interval was defined as > 6 months from symptom onset.
RESULTS: A total of 104 children with ICGCT (59.6% males, median age 12.6 years, follow-up 6.8 years) were included. About 64.4% had germinoma. Endocrine deficits were present in 63.5% at diagnosis. The median diagnostic interval was 3 months. About 32.7% had prolonged diagnostic intervals, particularly for suprasellar tumors and those presenting with endocrinopathies. Inconclusive MRI, as well as caveats in tumor biopsy, also contributed to delayed diagnosis. Diagnostic interval had no impact on overall survival and progression-free survival, but children with diagnostic delay tend to be shorter. At follow-up, 66.3% had persistent endocrinopathies, in addition to 40.8% being overweight/obese and 60% having low bone mineral density.
CONCLUSION: Our study highlighted patient-related, physician-related, and tumor-related delays in the diagnosis of pediatric ICGCT. Although there was no impact on mortality, children with diagnostic delay tend to be shorter. Surveillance of endocrinopathies alongside assessment of weight status and bone health is essential.
PMID:41074639 | DOI:10.1002/pbc.32098
