Developing a Noninvasive Epigenetic Blood Test to Detect and Monitor Gastrointestinal Neuroendocrine and Mixed Neuroendocrine Tumors

What this Trial Is About

Researchers are investigating gastroenteropancreatic GEP mixed neuroendocrine-non-neuroendocrine neoplasms MiNENs, which are complex tumors with diagnostic challenges due to the neuroendocrine component often being small or located deep in the body. The study aims to develop a non-invasive diagnostic and monitoring tool by analyzing epigenetic differences, specifically DNA methylation, in circulating tumor DNA to detect neuroendocrine tumors. This approach could improve timely diagnosis and help understand tumor biology for better treatment strategies. The research involves developing a liquid biopsy assay using Oxford Nanopore Technologies sequencing, which can simultaneously analyze DNA sequence and methylation patterns. The study includes patients with confirmed neuroendocrine neoplasms and those with non-neuroendocrine gastrointestinal tumors as controls. The goal is to create a diagnostic test capable of detecting and monitoring these tumors through blood samples, overcoming limitations of traditional tissue biopsies. Participants will provide blood samples for analysis of circulating tumor DNA methylation and fragmentomics over a two-year period. Researchers will compare these molecular profiles to reference maps of normal and tumor tissue to identify specific biomarkers. The primary outcome is the successful development of this diagnostic assay, which could offer a less invasive option for diagnosis and ongoing monitoring of neuroendocrine tumors.

EpigenOMic Determinants of the Neuroendocrine Phenotype As Biomarkers for Neuroendocrine Neoplasms