A Noninvasive and Screening miRNA Signature for Gastrointestinal Cancer

Gastrointestinal (GI) cancers remain a major global health burden, largely due to the lack of effective and accessible early screening strategies. Current diagnostic approaches-including endoscopy, computed tomography (CT), and magnetic resonance imaging (MRI)-are either invasive, resource-intensive, or insufficiently sensitive for detecting early-stage disease, and are therefore not suitable for population-wide screening or for simultaneously identifying multiple GI tumor types. As a result, many patients are diagnosed at advanced stages, when therapeutic options are limited and prognosis is poor. Circulating microRNAs (miRNAs) offer a promising alternative, as they are stable in peripheral blood and reflect tumor-related molecular alterations. In this study, the investigators aim to develop and validate a robust, noninvasive miRNA-based signature capable of distinguishing GI cancers from non-malignant controls. By integrating multi-cohort datasets and applying machine learning-based feature selection and predictive modeling, the investigators will construct a screening panel optimized for reproducibility, scalability, and early-stage detection. This noninvasive miRNA signature has the potential to support accessible, cost-effective, and clinically practical population-level screening for GI cancers, ultimately facilitating earlier diagnosis and improving outcomes for participants.

Sex

All

Minimum age

18 Years

Inclusion Criteria:

1. Adults aged 18 years or older at the time of blood sample collection.
2. Patients with a confirmed diagnosis of one of the following gastrointestinal cancers: Hepatocellular carcinoma (HCC), Cholangiocarcinoma (CCA), Pancreatic ductal adenocarcinoma (PDAC), Esophageal squamous cell carcinoma (ESCC), Gastric cancer (GC), Colorectal cancer (CRC), Non-cancer control participants, including healthy volunteers or patients with benign gastrointestinal conditions.
3. Availability of retrospective blood samples collected according to institutional protocols.
4. Willingness to allow use of de-identified clinical and demographic data for research purposes.

Exclusion Criteria:

* other active malignancies; insufficient sample quality/volume; recent chemotherapy/radiotherapy/surgery; any condition preventing reliable participation.

• BACKGROUNDGoddard KAB, Feuer EJ, Mandelblatt JS, Meza R, Holford TR, Jeon J, Lansdorp-Vogelaar I, Gulati R, Stout NK, Howlader N, Knudsen AB, Miller D, Caswell-Jin JL, Schechter CB, Etzioni R, Trentham-Dietz A, Kurian AW, Plevritis SK, Hampton JM, Stein S, Sun LP, Umar A, Castle PE. Estimation of Cancer Deaths Averted From Prevention, Screening, and Treatment Efforts, 1975-2020. JAMA Oncol. 2025 Feb 1;11(2):162-167. doi: 10.1001/jamaoncol.2024.5381. PMID 39636625
• BACKGROUNDBray F, Laversanne M, Sung H, Ferlay J, Siegel RL, Soerjomataram I, Jemal A. Global cancer statistics 2022: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2024 May-Jun;74(3):229-263. doi: 10.3322/caac.21834. Epub 2024 Apr 4. PMID 38572751