454 Digital quantitative detection of methylated DNA biomarkers: A helpful tool in the early diagnosis of Sézary syndrome

Sézary syndrome (SS) is an aggressive type of cutaneous T-cell lymphoma. Diagnosing SS can be challenging, especially in early stages disease. Previously, a genome-wide study, we showed that promoter hypermethylation PROM1, G0S2, CMTM2, PAM, GNMT and NEXN frequently observed late disease, but neither found healthy donors nor benign erythrodermic inflammatory dermatoses (EID) patients. In this evaluated the diagnostic value these biomarkers Furthermore, aimed to improve accuracy, sensitivity straightforwardness biomarker detection by developing testing novel digital PCR-based assays. Digital PCR (dPCR) third generation enables sensitive, precise reproducible absolute quantification nuclei acid molecules. We collected peripheral blood from 15 EID The patients had progressive disease fulfilled disease-specific WHO criteria during follow-up. methylation status our panel was analyzed DNA extracted whole enriched cell fractions using Methylation Specific – Melting Curve Analysis (MS-MCA) Sensitive Restriction Enzyme (MSRE-dPCR). 87% patient samples, one or more hypermethylated as detected MS-MCA. Moreover, with MSRE-dPCR could accurately sensitively quantify markers, even less fractions. These data show analyzing useful diagnosis SS. Implementation finding daily practice shorten delayed which have beneficial effects on treatment quality life. applying allows threshold calling results accurate, sensitive straightforward diagnosis.