TEST:

NYU Langone Genome PACT assay

We conclude with presenting case studies that identify both the clinical utility and informatic challenges of variant calling specific to gene panel sequencing e.g., i) the capture of potential targetable rare and novel indels and multivariant mutations in exons 19 and 20 of EGFR, and ii) a unique KIT tandem duplication event in a gastrointestinal stromal tumor (GIST). We demonstrate the value in precision oncology for multiple cancer types and how the capture of unique variants can provide better targeted treatment options to cancer patients.

Conclusions We show that WGS using the non-coding DNA mutational signatures can detect ctDNA in low grade meningiomas in plasma despite low exonic mutational burden. ctDNA WGS could enable post-operative monitoring of meningiomas.

Aneuploidy is a more frequent molecular feature of aggressive oligodendroglioma. Therefore, genome wide assessment of aneuploidy may have a higher prognostic yield than targeted analysis of the CDKN2A/B locus.

Molecularly, PRNRP is a unique renal cell neoplasm defined by KRAS mutations and methylation patterns. KRAS mutation is an early event in this tumor type as illustrated by the small papillary adenoma. Methylation studies suggest that PRNRP is different from papillary RCC and may arise from the distal renal tubular epithelium.