Somatic Variant Detection in Circulating Cell-Free Plasma DNA of Patients with Pancreatic Neuroendocrine Tumours

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Introduction: Cell-free DNA (cfDNA) as a type of “liquid biopsy” represents an attractive alternative to tissue sampling for detecting tumour-specific changes (circulating tumour DNA; ctDNA).

Aim(s): To investigate if pancreatic NETs (PNETs) release ctDNA for use in disease monitoring.

Materials and methods: We investigated the mutational landscape of 9 PNET tissue samples from 3 cases using exome sequencing. DNA from matched blood served as control. Common mutations in all samples from the same case were identified and prioritised for further plasma validation according to type of mutation, quality of sequence reads and mutant allele frequency.

Conference: 13th Annual ENETSConcerence (2016)

Presenting Author: Pipinikas C

Authors: Pipinikas C, Gutteridge A, Forshew T, Childs A, Meyer T,

Keywords: ctDNA, PNET,