Role of Genomic Imprinting in Cancer Diagnosis

The current research focus for cancer diagonosis is classical genetics, named "driving genes". However, not all cancer patients have typical genetic alterations, especially at early stage. In the past dacades, accumulating evidences have revealed that more than 80% diseases are closely related to epigenetic changes. The normally silenced copy of imprinted genes are reactivated at early stage of cancers, and finally proceed to copy number variation. This study will screen for a panel of imprinted genes and build quantitative models to assist the diagnosis of multiple cancers.

Study Overview

• Status: Unknown
• Conditions: Cancer; Biomarker; Early Diagnosis; Genomic Imprinting
• Intervention / Treatment: Diagnostic test: In-situ imprinting detection

• Study Type: Observational
• Enrollment (Anticipated): 1500

Contacts and Locations

Study Locations

• China
  • Shanghai
    • Shanghai, Shanghai, China, 200000
      • Recruiting
      • Zhongshan Hospital of Fudan University
      • Contact: Chunxue Bai, MD; Phone Number: 18621170011; Email: bai.chunxue@zs-hospital.sh.cn
      • Contact: Dawei Yang, MD; Phone Number: 13564703813; Email: yang_dw@hotmail.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients diagnosed with suspicious cancer in Zhongshan Hospital from July 2017 till the end of this study.

Description

Inclusion Criteria:

• Patients diagnosed with suspicious cancer by ultrasound, CT or endoscope.
• Biopsy samples available.
• Male or female patients aged ≥ 18 years.
• Participants signed informed consent form.

Exclusion Criteria:

• Age under 18 years.
• Severe cardiovascular diseases.
• Central nervous system diseases.
• Mental disorder.
• Pregnant.
• Individuals unwilling to sign the IRB-approved consent form and unwilling to follow the protocol to submit the serial urine for test after surgery.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Cancer patients; The patients receive the surgery according to the indication of surgery. The diagnosis is confirmed by pathology of removed tissue. The result of imprinting detection are used as cancer group.	Diagnostic test: In-situ imprinting detection; The loss of imprinting (LOI) and copy number variation (CNV) from biopsies will be tested by LiSen in-situ imprinting detection.
Benign tumor and other disease patients; Patients ruled out the possibility of malignancy according to biopsy pathology are used as negative control.	Diagnostic test: In-situ imprinting detection; The loss of imprinting (LOI) and copy number variation (CNV) from biopsies will be tested by LiSen in-situ imprinting detection.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Sensitivity of imprinting cancer early detection	Number of patients "declared positive" with the imprinting early detection among the patients suffered from cancer	In the middle of the study, an average of 15 months
Specificity of imprinting cancer early detection	Number of patients "declared negative" with the imprinting early detection among the patients who are with benign tumors or other diseases	In the middle of the study, an average of 15 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Comparison of the sensitivity of the imprinting detection versus cytopathology	Number of patients "declared positive" with the imprinting early detection versus patients "declared positive" with the cytopathology	In the middle of the study, an average of 15 months
Comparison of the specificity of the imprinting detection versus cytopathology	Number of patients "declared negative" with the imprinting early detection versus patients "declared negative" with the cytopathology	In the middle of the study, an average of 15 months

Collaborators and Investigators

• Sponsor: Chinese Alliance Against Lung Cancer
• Collaborators: LiSen Imprinting Diagnostic Inc.

Publications and helpful links

General Publications

• Feinberg AP. The Key Role of Epigenetics in Human Disease Prevention and Mitigation. N Engl J Med. 2018 Apr 5;378(14):1323-1334. doi: 10.1056/NEJMra1402513. No abstract available.
• Jelinic P, Shaw P. Loss of imprinting and cancer. J Pathol. 2007 Feb;211(3):261-8. doi: 10.1002/path.2116.
• Haig D. Maternal-fetal conflict, genomic imprinting and mammalian vulnerabilities to cancer. Philos Trans R Soc Lond B Biol Sci. 2015 Jul 19;370(1673):20140178. doi: 10.1098/rstb.2014.0178.
• Nilendu P, Sharma NK. Epigenomic Hard Drive Imprinting: A Hidden Code Beyond the Biological Death of Cancer Patients. J Cancer Prev. 2017 Dec;22(4):211-218. doi: 10.15430/JCP.2017.22.4.211. Epub 2017 Dec 30.
• Uribe-Lewis S, Woodfine K, Stojic L, Murrell A. Molecular mechanisms of genomic imprinting and clinical implications for cancer. Expert Rev Mol Med. 2011 Jan 25;13:e2. doi: 10.1017/S1462399410001717.

Study record dates

Study Major Dates

• Study Start (Actual): July 1, 2017
• Primary Completion (Anticipated): March 31, 2019
• Study Completion (Anticipated): June 30, 2020

Study Registration Dates

• First Submitted: March 18, 2019
• First Submitted That Met QC Criteria: March 18, 2019
• First Posted (Actual): March 20, 2019

Study Record Updates

• Last Update Posted (Actual): March 20, 2019
• Last Update Submitted That Met QC Criteria: March 18, 2019
• Last Verified: March 1, 2019

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Disease
• Other Study ID Numbers: CAALC-005-LiSen

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No