Longitudinal copy number alteration analysis in plasma cell-free DNA of neuroendocrine neoplasms is a novel specific biomarker for diagnosis, prognosis and follow-up

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Introduction: Research on liquid biopsies in neuroendocrine neoplasms (NENs) remains limited, despite the urgent need for new, preferably blood-based, biomarkers. Copy number alterations (CNAs) represent an important type of molecular alteration in NENs and are detectable in cell-free DNA (cfDNA).

Aim(s): The aim of this study was to explore the biomarker potential of cfDNA CNA analysis in a prospective cohort of gastroenteropancreatic and lung NEN patients.

Materials and methods: Longitudinal plasma samples, clinicopathological and survival data were collected from all patients. cfDNA was subjected to shallow whole-genome sequencing to detect genome-wide CNAs and to estimate the circulating tumor DNA (ctDNA) fraction. A classification model was trained to differentiate pancreatic adenocarcinoma (PAAD) from pancreatic NEN (PNEN) using tissue-based CNAs.

Conference:

Presenting Author:

Authors: Mariën L, Boons G, Vandamme T, Lybaert W, Roeyen G,

Keywords: neuroendocrine neoplasm, liquid biopsies, circulating tumor DNA, biomarker, copy number alterations,