التفاصيل البيبلوغرافية
| العنوان: |
TRAF7 somatic mosaicism in a patient with bilateral optic nerve sheath meningiomas: illustrative case |
| المؤلفون: |
Kaidonis, Georgia, Pekmezci, Melike, Van Ziffle, Jessica, Auguste, Kurtis I, Horton, Jonathan C |
| المصدر: |
Journal of Neurosurgery Case Lessons, vol 3, iss 23 |
| بيانات النشر: |
eScholarship, University of California |
| سنة النشر: |
2022 |
| المجموعة: |
University of California: eScholarship |
| مصطلحات موضوعية: |
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Rare Diseases, Human Genome, Brain Disorders, AKT1 = v-akt murine thymoma viral oncogene homolog 1, CHEK2 = checkpoint kinase 2, FGFR = fibroblast growth factor receptor, FUBP1 = far upstream element protein 1, IDO = indoleamine 2, 3-dioxygenase, KLF4 = Krupple-like factor 4, MEKK3 = mitogen-activated kinase kinase kinase 3, MRI = magnetic resonance imaging, NF2 = neurofibromatosis type 2, PD-L1 = programmed death-ligand 1, SMAD = some mothers again decapentaplegic, SMO = smoothened, frizzled family receptor, TDO2 = tryptophan 2, TRAF7 = tumor necrosis factor receptor-associated factor 7, TRAF7 syndrome, TWIST1 = Twist Family BHLH Transcription Factor 1, WD40 domain, craniosynostosis, meningiomatosis, mosaicism, p.R641C |
| الوصف: |
BackgroundIn 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.ObservationsThis 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.LessonsThe 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. |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
unknown |
| العلاقة: |
qt3bh8x3r7; https://escholarship.org/uc/item/3bh8x3r7Test |
| الإتاحة: |
https://escholarship.org/uc/item/3bh8x3r7Test |
| حقوق: |
public |
| رقم الانضمام: |
edsbas.6D797C00 |
| قاعدة البيانات: |
BASE |
