Whole genome sequencing of human well differentiated retroperitoneal liposarcoma samples. Whole genome sequencing of human well differentiated retroperitoneal liposarcoma samples

Well differentiated liposarcoma (WD-LPS) is a relatively rare tumour, with less than 50 cases occurring per year in the UK. These tumours are both chemotherapy and radiotherapy resistant and present a significant treatment challenge. Little is known of the molecular landscape of these tumours and no current targets for molecular therapy exist. We aimed to carry out a comprehensive molecular characterisation of WD-LPS via whole genome sequencing, RNA-sequencing and methylation array analysis. A recurrent mutation within exon1 of FOXD4L3 was observed (chr9:70,918,189A>T; c.322A>T; p.Lys108Te). Recurrent amplification of HGMA2, CDK4 and MDM2 was observed, although this was in fact part of a general amplification of the region around this gene. A recurrent gene fusion between YPEL1 and UGT2B4 was also observed.