Genomic landscape of circulating tumor DNA in metastatic extramammary Paget’s disease

xlomafota13 shared this article with you from Inoreader Genomic landscape of circulating tumor DNA in metastatic extramammary Paget's disease Via Experimental Dermatology Abstract Although cancer personalized profiling by deep sequencing (CAPP-Seq) of cell-free DNA (cfDNA) has gained attention, the clinical utility of circulating tumor DNA (ctDNA) in extramammary Paget's disease (EMPD) has not been investigated. In this study, genomic alterations in the cfDNA and tumor tissue DNA were investigated in seven patients with metastatic EMPD. CAPP-Seq revealed mutations in 18 genes, 11 of which have not yet been reported in EMPD. The variant allele frequency of some of the mutated genes reflected the disease course in patients with EMPD. In one patient, the mutation was detected even though imaging findings revealed no metastasis. In another patient with triple EMPD (genital area and both axilla), cfDNA sequencing detected the mutation in a rib metastatic lesion, which was also detected in both axilla lesions but not the genital region. Investigations of the ctDNA may be useful toward the elucidation of clonal evolution in EMPD. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.