TRAF7 somatic mosaicism in a patient with bilateral optic nerve sheath meningiomas: illustrative case
| Autor: | Kaidonis, Georgia, Pekmezci, Melike, Van Ziffle, Jessica, Auguste, Kurtis I, Horton, Jonathan C |
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| Rok vydání: | 2022 |
| Předmět: |
SMO = smoothened
CHEK2 = checkpoint kinase 2 TRAF7 syndrome FUBP1 = far upstream element protein 1 AKT1 = v-akt murine thymoma viral oncogene homolog 1 FGFR = fibroblast growth factor receptor Rare Diseases NF2 = neurofibromatosis type 2 Clinical Research SMAD = some mothers again decapentaplegic Genetics TDO2 = tryptophan 2 WD40 domain PD-L1 = programmed death-ligand 1 meningiomatosis TWIST1 = Twist Family BHLH Transcription Factor 1 frizzled family receptor Human Genome IDO = indoleamine 2 General Medicine MEKK3 = mitogen-activated kinase kinase kinase 3 Brain Disorders KLF4 = Krupple-like factor 4 craniosynostosis 3-dioxygenase mosaicism MRI = magnetic resonance imaging pTERT = telomerase reverse transcriptase TRAF7 = tumor necrosis factor receptor-associated factor 7 p.R641C |
| Zdroj: | Journal of neurosurgery. Case lessons, vol 3, iss 23 |
| ISSN: | 2694-1902 |
| DOI: | 10.3171/case2247 |
| Popis: | BACKGROUND In the past decade, next-generation sequencing has spurred significant progress in the understanding of cytogenetic alterations that occur in meningiomas. Eighty percent of adult meningiomas harbor pathogenic somatic variants involving NF2, TRAF7, SMARCB1, KLF4, PI3K, or POLR2A. Somatic variants in TRAF7 associated with meningiomas usually localize to the gene’s WD40 domains but are mutually exclusive to germline mutations, which cause a distinctive autosomal dominant syndrome. OBSERVATIONS This case involved a 15-year-old girl with bilateral optic nerve sheath meningiomas, diffuse meningiomatosis, and syndromic features, including craniosynostosis, brain anomalies, syndactyly, brachydactyly, epicanthus, and patent ductus arteriosus. Genetic testing of the meningioma specimen 7 years after biopsy showed a pathogenic p.R641C variant within the WD40 domain of the TRAF7 gene. Additional testing of unaffected tissues identified the same variant at lower allele frequencies, consistent with postzygotic somatic mosaicism. LESSONS The authors report postzygotic somatic mosaicism for a p.R641C variant in the TRAF7 gene in a patient with bilateral optic nerve sheath meningiomas, diffuse meningiomatosis and a constellation of systemic findings previously recognized in patients with germline mutations of this gene. This is the first report of optic nerve sheath meningioma in a patient with mutation in the TRAF7 gene. |
| Databáze: | OpenAIRE |
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