PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors
We report a case of Klippel Trenaunay Syndrome that was monitored bothclinically and molecularly over a period of 9 years. In order to identify the germline susceptibility of the patient we performed Whole Exome Sequencing (WES). In order to observe clonal mutations we performed cfDNA-NGS Liquid Biopsies. We also analyzed the available tissue deriving from the previous surgeries.