EpigenOMic Determinants of the Neuroendocrine Phenotype As Biomarkers for Neuroendocrine Neoplasms

NCT06785597 | Recruiting

• 1 other identifier: L2-154
• Study Type: observational
• Target: 130
• Locations: 1 country
• Sites: 1

Brief Summary

For GEP mixed neuroendocrine (NE) non-neuroendocrine neoplasms (MiNENs) a key issue affecting prognosis is sometimes the difficulty in obtaining a timely diagnosis, as the NE component is often localized in deeper anatomical locations and/or becomes prevalent over time. The tissue material of biopsies may be not enough to define the NE component when this is particularly small and this could impact on therapeutic decision. Furthermore GEP NENs need to be characterized for potentially druggable biomarkers and liquid biopsy has clear advantage to the solid one to this aim. Here, we will exploit epigenetic differences characterizing NE tumors to build a DNA methylation-based liquid biopsy assay able to detect circulating tumor DNA of NE derivation, to enable the non-invasive diagnosis and monitoring of GEP-MiNENs.

Conditions

Mixed Neuroendocrine-Non Neuroendocrine Neoplasm; Neuroendocrine Neoplasm

Keywords

global molecular profiling; neuroendocrine phenotype; biomarker; epigenomic determinant

Outcome Measures

Primary Outcomes (1)

• Develop a circulating methDNA/fragmentomics diagnostic assay

  Epigenetic differences characterizing neuroendocrine tumors will be exploited to build a DNA methylation-based liquid biopsy assay able to detect circulating tumor DNA of neuroendocrine derivation, to enable the non-invasive diagnosis and monitoring of GEP-MiNENs.

  2 years

Study Arms (2)

Neuroendocrine neoplasm case

patient with histologically confirmed neuroendocrine neoplasm and onfirmed Mixed Neuroendocrine-non neuroendocrine neoplasm with each component \> 30%) and high-grade Neuroendocrine Carcinomas

Non-neuroendocrine neoplasm control

patient with histologically confirmed non-neuroendocrine gastrointestinal tumors (including gastric, pancreatic, colorectal, small intestine).

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with GEP-NENs, aiming to collect adequate material and for a formal clinical to establish sensitivity and specificity of the assay in a clinically meaningful scenario. Due to the relative rarity of the disease compared to non-NENs we will not enroll a consecutive population, but we will set up a case-control study: * Cases: patients with resectable, histologically confirmed NENs * Controls: patients with resectable, histologically confirmed non-neuroendocrine gastrointestinal tumors (including gastric, pancreatic, colorectal, small intestine). Patients will be enrolled as cases or controls based on their pre-surgical diagnostic biopsy but will be definitively allocated in the case or control group based on their post-surgery full histological examination.

You may qualify if:

• Patient with histologically confirmed diagnosis of NEC/MINEN amenable to surgery with radical intent
• Patient with histologically confirmed diagnosis of NET amenable to surgery with radical intent
• Patient with metastatic NET/NEC, amenable to biopsy or surgery, including palliative intent
• Patient histologically confirmed non-NEN histotype:
• Colorectal carcinoma
• Small intestine carcinoma
• Gastric or oesophageal carcinoma
• Pancreatic ductal adenocarcinoma
• Metastasectomy from any non-NEN GI carcinoma

You may not qualify if:

• Grading G1 and G2 \<=10% Ki67
• Presence of concomitant neoplasm (within 3 years)
• Concomitant major haematological alteration
• Concomitant major organ dysfunction (e.g. G3/4 liver or kidney failure)
• Ongoing chemotherapy

Sponsors & Collaborators

• European Institute of Oncology: lead
• Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone Palermo: collaborator

Study Sites (1)

European Institute of Oncology

Milan, 20141, Italy

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

blood samples; surgical/bioptic samples

MeSH Terms

Conditions

Neuroendocrine Tumors

Condition Hierarchy (Ancestors)

Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Nerve Tissue

Study Officials

• Nicola Fazio, MD

  European Institute of Oncology

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Nicola Fazio, MD

CONTACT

0257489258; divisione.gastrointestinale@ieo.it

Francesca Spada, MD

CONTACT

0257489258; divisione.gastrointestinale@ieo.it

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 15, 2025
• First Posted: January 21, 2025
• Study Start: October 21, 2024
• Primary Completion (Estimated): October 21, 2026
• Study Completion (Estimated): October 21, 2026
• Last Updated: January 21, 2025

Record last verified: 2024-08

Locations

IT (1)