Multiple meningiomas arising within the same hemisphere associated with Li-Fraumeni syndrome

Author:

Hong Christopher S.,Erson-Omay E. Zeynep,Moliterno Jennifer

Abstract

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.

Publisher

Scientific Scholar

Subject

Clinical Neurology,Surgery

Reference26 articles.

1. Nucleotide variations of TP53 exon 4 found in intracranial meningioma and in silico prediction of their significance;Bukovac;Mol Clin Oncol,2019

2. Multiple meningiomas: A clinical, surgical, and cytogenetic analysis;Butti;Surg Neurol,1989

3. Cerebrospinal fluid-disseminated meningioma;Chamberlain;Cancer,2005

4. Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO;Clark;Science,2013

5. Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas;Clark;Nat Genet,2016

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