Chordoma Genomics

In this study, we performed paired tumor/normal whole exome and shallow long insert whole genome sequencing, as well as tumor RNAseq, from archival chordoma specimens collected from four patients at the Barrow Neurological Institute in Phoenix, AZ. The purpose of this analysis was to identify potential therapeutic targets. In three patients, we observed that although different DNA and RNA changes were present in each tumor, alterations fell on converging pathways. In the fourth patient, constitutional DNA demonstrated potentially pathogenic alterations that may have predisposed the patient to chordoma.]]> Inclusion: For this retrospective analysis, BNI's tissue bank identified four chordoma patients for whom de-identified fresh frozen tumor specimens and whole blood are available for sequencing analyses. ]]>