34. Comprehensive genomic characterization of infantile cancers reveals high yield of therapeutically targetable alterations

Our pediatric tertiary care center has established a patient-focused translational protocol supporting genomic profiling of rare or treatment refractory cancers. Infantile and congenital cancers represent a unique cohort among our study group due to disease spectrum, complexity, and associated co-morbidities. Comprehensive genomic profiling was initiated to aid in diagnosis, prognostication, treatment, and detection of germline disease predisposition in this patient cohort.Enhanced exome sequencing of disease and comparator tissue was coupled with RNA sequencing of the disease-involved specimen to assess for single nucleotide variation (SNV), insertion/deletions (indels), copy number alteration (CNA), structural variation (SV), fusions, and gene expression.

Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Mariam Mathew, Samara Potter, Brianna Bucknor, Kathleen Schieffer, Elizabeth Varga, Katherine Miller, Benjamin Kelly, Peter White, Richard Wilson, Elaine Mardis, Catherine Cottrell Source Type: research