TEST:

OncoScan™ CNV Assay

5-ALA PDT could be effective in eradicating GICs with a heterogeneous molecular profile. The hybrid human-murine model presented here could be useful in investigating adjuvant therapies in GB, under the concept of personalized medicine.

Additionally, the KRAS:p.G12C/S:c.34G>T/A somatic mutation variant was detected in both GL01 and A549. This study provides a method for identifying potentially clinically-relevant genes associated with a sample's copy number aberrations and the pathways they represent, providing personalized mechanistic, prognostic, and therapeutic insights into the cancer biology of our cells.

The use of a WES assay to assess BRCA results, along with a GSS method incorporating gLOH and LST, produced a HRD test that is predictive for PARPi therapy.

This study highlights significant genetic differences between SEA and Western UM patients, particularly the lower incidence of monosomy 3 in SEA patients. This preliminary observation raises concerns about the reliability of using BAP1 loss alone, assessed through gene expression or immunostaining, as a sole marker for metastasis surveillance and risk stratification in Asian UM patients. These findings underscore the need for further research to determine whether additional genetic markers are required to improve prognostic accuracy in this population. Expanding molecular profiling in SEA would improve risk stratification and inform treatment strategies, while collaborative research with larger cohorts is essential to validate these findings and refine prognostic models globally.

The availability of HRD determination has doubled the number of patients eligible for PARP therapy. The assay can be conveniently performed on individual samples, and the open-access online platform facilitates HRD determination without the need for specialized bioinformatics support.

OS+ is a reliable test to identify clinically relevant genomic alterations, cnLOH, and several hotspot mutations in pediatric FFPE solid tumor specimens. WGS/WES significantly increases the yield of actionable somatic mutations and cancer-predisposing germline variants. The cost, turnaround time, and tumor percentage in the specimen make OS+ followed by WES principal tests for pediatric solid tumor analysis at our institution.

In this study, we applied the iSCORED pipeline for ultrafast, genome-wide CNV information of renal tumors with results showing complete concordance with established CNV analysis methods. This method could facilitate pathological diagnosis and potentially inform targeted treatment in less than 2 hours. Future directions include expanding analyzed tumor types and integrating methylation classification into the pipeline.

The OCA Plus assay and the OncoScan CNV assay show a high but not complete concordance to reference standard homologous recombination deficiency (HRD) detection. The main reason for QC failure or non-concordance in our study was a low tumor fraction estimated in the assay, despite the selection of material by a pathologist with an inclusion criterion of > 30% tumor. QC steps should include careful tumor content evaluation, and results on samples with < 30% tumor should not be reported.

These results suggest that high-grade infarct-associated sarcomas of bone, while sharing high levels of structural variations with osteosarcoma, may exhibit potentially less frequent TP53 mutations and more common CDKN2A/B deletions. This points to the possibility that the mutation spectrum and disrupted pathways could be distinct from conventional osteosarcoma.

Genomic instability score based on SNP array copy number alterations profile is associated with worse prognosis in patients with carcinoma of the head and neck. Higher GIS score is found in squamous cell carcinomas and is associated with mutations in genes involved in cell cycle control.

The Applied BiosystemsTM OncoScanTM CNV Plus Assay for Research offers a reliable and cost-effective alternative to NGS-based approaches for detection of HRD and can contribute to expanding access to HRD testing for cancer research.

Genomic instability score based on CGH array-based copy number alterations profile is associated with worse PFS and OS in patients under response to chemotherapy who received durvalumab maintenance.