15 research outputs found
Virtual biopsy using MRI radiomics for prediction of BRAF status in melanoma brain metastasis
The impact of histopathology and NAB2–STAT6 fusion subtype in classification and grading of meningeal solitary fibrous tumor/hemangiopericytoma
Accelerated whole‐brain perfusion imaging using a simultaneous multislice spin‐echo and gradient‐echo sequence with joint virtual coil reconstruction
Diffusion tensor and postcontrast T1-weighted imaging radiomics to differentiate the epidermal growth factor receptor mutation status of brain metastases from non-small cell lung cancer
The genomic landscape of schwannoma
Schwannomas are common peripheral nerve sheath tumors that can cause 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, recurrent mutations in ARID1A, ARID1B and DDR1. 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 19-Mb chromosomal inversion on chromosome 10q. The fusion was associated with male gender predominance, occurring in one out of every six men with schwannoma. Methylation profiling identified distinct molecular subgroups of schwannomas that were associated with anatomical location. Expression of the SH3PXD2A-HTRA1 fusion resulted in elevated phosphorylated ERK, increased proliferation, increased invasion and in vivo tumorigenesis. Targeting of the MEK-ERK pathway was effective in fusion-positive Schwann cells, suggesting a possible therapeutic approach for this subset of tumors