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We performed an integrative analysis to determine genomic aberrations common to sporadic schwannomas.

Schwannomas are common peripheral nerve sheath tumors that can cause significant debilitating morbidities. We performed an integrative analysis to determine genomic aberrations common to sporadic schwannomas. Exome sequence analysis with validation by targeted DNA-sequencing of 125 samples uncovered, in addition to expected NF2 disruption additional recurrent mutations. RNA sequencing identified a recurrent in-frame SH3PXD2A-HTRA1 fusion in 12/125 (10%) cases, and genomic analysis demonstrated the mechanism as resulting from a balanced 19Mb chromosomal inversion on chromosome 10q.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001002722 Illumina HiSeq 2500 93
Publications Citations
The genomic landscape of schwannoma.
Nat Genet 48: 2016 1339-1348
76
Single-cell multi-omic analysis of the vestibular schwannoma ecosystem uncovers a nerve injury-like state.
Nat Commun 15: 2024 478
0