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Glioblastoma multiforme in a child with tuberous sclerosis complex
Aglaia Vignoli1, Elena Lesma2, Rosa Maria Alfano3
1Child Neurology Unit - Epilepsy Center, Department of Health Science, University of Milan, San Paolo Hospital, Milano, Italy.
American Journal of Medical Genetics. Part A
|May 7, 2015
Summary
Tuberous Sclerosis Complex (TSC) rarely involves glioblastoma. This case highlights a child with TSC and a de novo TSC2 mutation who developed rapidly progressing glioblastoma, emphasizing the need for vigilance.
Area of Science:
- Neuro-oncology
- Genetics
- Pediatric Neurology
Background:
- Tuberous Sclerosis Complex (TSC) typically presents with benign tumors, primarily affecting the brain, kidneys, and skin.
- Malignant brain tumors, such as glioblastoma, are exceptionally rare in TSC patients.
- Standard TSC brain lesions include cortical tubers and subependymal nodules.
Observation:
- This report details a pediatric case with a clinical diagnosis of Tuberous Sclerosis Complex.
- The patient exhibited a rapidly progressing glioblastoma multiforme.
- Genetic analysis revealed a de novo mutation in the TSC2 gene.
Findings:
- The co-occurrence of Tuberous Sclerosis Complex and glioblastoma multiforme is exceedingly rare.
- Molecular characterization of the glioblastoma in this TSC patient was performed.
- A literature review on TSC and glioblastoma cases was conducted.
Implications:
- Despite its rarity, the potential association between TSC and glioblastoma should be recognized.
- Clinicians should maintain a high index of suspicion for malignant transformation in TSC patients.
- Enhanced clinical and radiological surveillance is recommended for individuals diagnosed with Tuberous Sclerosis Complex.
