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Multiple meningiomas arising within the same hemisphere associated with Li-Fraumeni syndrome
Christopher S Hong1, E Zeynep Erson-Omay1, Jennifer Moliterno1
1Department of Neurosurgery, Yale University School of Medicine, 20 York Street, LCI 8, New Haven, Connecticut, United States.
Background:
While meningiomas are some of the most common intracranial tumors, the presence of multiple ones at the time of presentation is rare and can most commonly be observed in patients with well-described syndromes (i.e., neurofibromatosis type 2) or those with prior cranial radiation history. In others, however, the pathophysiology remains unclear.
Case Description:
A 49-year-old female with no significant personal or familial oncologic medical history presented with a generalized seizure and was found to have ten meningiomas arising within the right hemisphere. She underwent a two-staged resection of all tumors, with pathology revealing the World Health Organization Grade I meningioma. Whole-exome sequencing revealed somatic NF2 mutations and heterozygous deletion of chromosome 22 overlapping with NF2, and analysis of the germline uncovered mutations of TP53, rendering a diagnosis of Li-Fraumeni Syndrome.
Conclusions:
This case represents a novel presentation of multiple meningiomas in a patient with newly diagnosed Li-Fraumeni syndrome, suggesting meningioma may be considered as part of this tumor-predisposed patient population.
Insights
Multiple meningiomas are rare, but this case links them to Li-Fraumeni syndrome. This finding suggests meningiomas should be considered in Li-Fraumeni patients.
Area of Science:
- Neuro-oncology
- Genetics
- Tumorigenesis
Background:
- Multiple meningiomas are uncommon, typically associated with neurofibromatosis type 2 or prior radiation.
- The underlying causes for multiple meningiomas in sporadic cases are often unknown.
Observation:
- A 49-year-old female presented with ten right-hemisphere meningiomas and generalized seizures.
- Pathology confirmed World Health Organization Grade I meningioma.
- Genetic analysis revealed somatic NF2 mutations and germline TP53 mutations, diagnosing Li-Fraumeni Syndrome.
Findings:
- This case presents a novel association between multiple meningiomas and Li-Fraumeni syndrome.
- Somatic NF2 mutations and TP53 germline mutations were identified.
Implications:
- Meningiomas should be considered in the spectrum of tumors associated with Li-Fraumeni syndrome.
- This case expands the understanding of meningioma pathophysiology in specific genetic contexts.
