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.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 2 Publications

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	Exome sequencing for 26 patients with matched blood RNA-seq for 41 patients	Illumina HiSeq 2500	93

Publications	Citations
The genomic landscape of schwannoma. Agnihotri S, Jalali S, Wilson MR, Danesh A, Li M, Klironomos G, Krieger JR, Mansouri A, Khan O, Mamatjan Y, Landon-Brace N, Tung T, Dowar M, Li T, Bruce JP, Burrell KE, Tonge PD, Alamsahebpour A, Krischek B, Agarwalla PK, Bi WL, Dunn IF, Beroukhim R, Fehlings MG, Bril V, Pagnotta SM, Iavarone A, Pugh TJ, Aldape KD, Zadeh G. Nat Genet 48: 2016 1339-1348	102
Single-cell multi-omic analysis of the vestibular schwannoma ecosystem uncovers a nerve injury-like state. Barrett TF, Patel B, Khan SM, Mullins RDZ, Yim AKY, Pugazenthi S, Mahlokozera T, Zipfel GJ, Herzog JA, Chicoine MR, Wick CC, Durakovic N, Osbun JW, Shew M, Sweeney AD, Patel AJ, Buchman CA, Petti AA, Puram SV, Kim AH. Nat Commun 15: 2024 478	16