Plasma cell-free DNA from metastatic gastroenteropancreatic neuroendocrine neoplasms contains tumor-associated copy number alterations

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Introduction: Recently, tumor-derived molecular alterations were detected in cell-free DNA (cfDNA) from gastroenteropancreatic neuroendocrine neoplasm (GEP-NEN) patients. In-depth evaluation of the biomarker potential of cfDNA is warranted, as better blood-based biomarkers are needed for GEP-NENs.

Aim(s): Our goal was to detect tumor-associated copy number alterations (CNAs) in cfDNA from GEP-NEN patients to molecularly characterize the tumor and estimate tumor fraction (TFx), and to evaluate these parameters over time.

Materials and methods: Metastatic GEP-NEN patients were included and clinicopathological data and plasma samples were collected from all patients. cfDNA was extracted from plasma and subjected to shallow whole-genome sequencing (sWGS). Detection of CNAs and estimation of TFx were performed using ichorCNA.

Conference: 18th Annual ENETS Concerence (2021)

Presenting Author:

Authors: Boons G, Vandamme T, Lybaert W, Roeyen G, Rondou T,

Keywords: cell-free DNA, shallow whole-genome sequencing, gastroenteropancreatic neuroendocrine neoplasm, biomarker,