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Early-Onset Medullocervical Low-Grade Glioma With FGFR1 Mutation and Leptomeningeal Spread in an Infant: A Case
Thaer A Tumar1, Mahdi W Suboh1, Mones H Atatre1
1Department of Clinical Medical Sciences, Faculty of Medicine and Health Sciences Palestine Polytechnic University Hebron Palestine.
Insights
Infantile gliomas with FGFR1 mutations can be aggressive despite benign histology. Molecular profiling is crucial for diagnosing and treating these rare pediatric low-grade gliomas (PLGGs).
Area of Science:
- Pediatric neuro-oncology
- Molecular diagnostics in oncology
- Genetics of brain tumors
Background:
- Pediatric low-grade gliomas (PLGGs) typically have good prognoses.
- Infantile posterior fossa gliomas with dissemination are rare and can be aggressive.
- Molecular subtypes, like FGFR1-mutated gliomas, may show unexpected clinical behavior.
Purpose of the Study:
- To report a rare case of an aggressive infantile glioma.
- To highlight the importance of molecular profiling in pediatric low-grade gliomas.
- To discuss treatment strategies for atypical pediatric brain tumors.
Main Methods:
- Case report of a four-month-old female with a posterior fossa mass.
- Histopathological examination and molecular analyses (mutation, deletion, methylation profiling).
- Treatment with ventriculoperitoneal shunt, surgical decompression, and targeted therapy (trametinib).
Main Results:
- Histology showed a low-grade glioneuronal tumor with low proliferation.
- Molecular analysis revealed an FGFR1 mutation, 18q13 deletion, and MYB(L1)-family subtype B classification.
- Tumor progression occurred despite initial treatment, with leptomeningeal metastases; trametinib provided a partial response.
Conclusions:
- Molecular diagnostics are essential for accurate risk stratification and treatment selection in pediatric low-grade gliomas.
- Infantile gliomas with specific mutations can exhibit aggressive behavior inconsistent with histology alone.
- Multidisciplinary care and targeted therapies are vital for managing these challenging cases.
Abstract:
Pediatric low-grade gliomas (PLGGs) are generally slow-growing tumors associated with favorable long-term outcomes. However, their occurrence in early infancy is rare, particularly when arising in the posterior fossa with extensive dissemination and hydrocephalus. Advances in molecular profiling have identified specific genetic subtypes, including FGFR1-mutated gliomas, which may demonstrate more aggressive clinical behavior than suggested by histology alone. We report a four-month-old female who presented with signs of increased intracranial pressure and sunsetting eyes. Imaging revealed a heterogeneously enhancing exophytic medullary mass with a large cystic component causing tetraventricular hydrocephalus. Following ventriculoperitoneal shunt placement and surgical decompression, histology confirmed a low-grade glioneuronal tumor with low proliferative activity. Molecular analysis identified an FGFR1 mutation and 18q13 deletion, and methylation profiling classified the tumor within the MYB(L1)-family subtype B. Despite benign histologic features, the tumor progressed with cervical cord extension and diffuse spinal leptomeningeal metastases. Targeted therapy with trametinib achieved partial radiologic response before further progression. The patient remains clinically stable under ongoing therapy and multidisciplinary care. This case underscores the critical role of molecular diagnostics in risk stratification and treatment selection, particularly in infants with atypically aggressive PLGG.
