Genetic Characterization of Pediatric Sarcomas by Targeted RNA Sequencing

Somatic variants, primarily fusion genes and single nucleotide variants (SNVs) or indels, are prevalent among sarcomas. In many cases, accurate diagnosis of these tumors incorporates genetic findings that may also carry prognostic or therapeutic significance. Using the Anchored Multiplex PCR based FusionPlex system, we developed a custom RNA sequencing panel that simultaneously detects fusion genes, SNVs and indels in 112 genes found to be recurrently mutated in solid tumors. Using this assay, we conducted a retrospective analysis to identify somatic variants that may have assisted with classifying a cohort of 90 previously uncharacterized primarily pediatric sarcoma specimens.

Source: Journal of Molecular Diagnostics - July 30, 2020 Category: Pathology Authors: Matthew R. Avenarius, Cecelia R. Miller, Michael A. Arnold, Selene Koo, Ryan Roberts, Martin Hobby, Thomas Grossman, Yvonne Moyer, Richard K. Wilson, Elaine R. Mardis, Julie M. Gastier-Foster, Ruthann Pfau Source Type: research