Cell-free DNA (cfDNA) methylation profiling for minimally invasive cancer detection in patients with Extra-Pulmonary NeuroEndocrine Carcinoma (EP-NEC)

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Introduction: Robust biomarkers to aid clinical management of patients (pts) with EP-NEC are lacking. cfDNA methylation profiling has shown higher sensitivity/specificity than cfDNA genome profiling in diagnosing and classifying various cancers, including Small Cell Lung Cancer (SCLC).

Aim(s): To assess the feasibility of cfDNA methylation profiling in serial plasma from a prospective cohort of pts with advanced EP-NEC undergoing palliative chemotherapy.

Materials and methods: cfDNA methylation profiling was performed using a bisulfite-free, methylation enrichment method (T7-MBD-seq) and a bioinformatic pipeline validated in SCLC samples.

Conference:

Presenting Author: Frizziero M

Authors: Frizziero M, Pearce S, Clipson A, Rothwe D, Mouliere F,

Keywords: Extra-Pulmonary NeuroEndocrine Carcinoma, cfDNA, methylation profililing, biomarker,