Implementation of the Methylome in the Characterization of Solid Tumors
Overview
- Phase
- Not Applicable
- Status
- Recruiting
- Enrollment
- 180
- Locations
- 1
- Primary Endpoint
- Identify methylation profiles
Overview
Brief Summary
This study aims to investigate the functional consequences of specific methylation changes and to examine the clinical implications of these alterations. Methylation analysis is a powerful tool for understanding the molecular mechanisms of brain tumors and other solid tumors and can help identify new diagnostic and therapeutic targets. By analyzing DNA methylation patterns in tumor tissue, it is possible to identify genes that are silenced or activated by methylation. This information can be used to develop new biomarkers for early diagnosis and to identify new therapeutic targets that can be used to reverse methylation-mediated gene silencing.
Detailed Description
A total of 180 cases will be collected: 60 central nervous system tumors, 60 endometrial carcinomas, and 60 endocrine tumors (pituitary tumors, adrenal tumors, thyroid tumors).
By following these practical steps, the project aims to develop and implement a methylation-based tumor classification system that improves clinical decision-making and patient care in the field of solid tumor oncology.
1. Study design and sample collection:
- Select a diverse cohort of patients with various types of solid tumors.
- Collect tumor tissue samples for DNA extraction.
- Select the neoplastic area and extract DNA. 2. NGS profiling:
- Analyze molecular alterations using lab-developed NGS panels developed and in use at the IRCCS molecular pathology laboratory (sequencer: S5 Prime - Thermo Fisher Scientific).
3. Methylation profile:
- Methylation analysis using ChIP array (Next 550 - Illumina) to generate methylation data.
4. Clinical correlation and interpretation of data:
- Analyze the clinical relevance of tumor classification based on methylation profile. Define how these classifications relate to clinical parameters, to treatment outcome and survival 5. Development of diagnostic/therapeutic protocols:
- Development of interdisciplinary protocols to implement methylation profile -based tumor classification in the clinical setting.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Retrospective
Eligibility Criteria
- Ages
- 18 Years to — (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •Confirmed diagnosis of one of the following types of cancer: gliomas, malignant thyroid neoplasms, or endometrial carcinomas (according to the WHO Nomenclature)
- •Availability of adequate material for analysis at the laboratory, specifically availability of at least 3 sections of 10 µm of FFPE
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
Identify methylation profiles
Time Frame: from January 2024 to December 2026
The primary objective of this project is to perform a comprehensive analysis of methylation in glial tumors, endometrial carcinomas, and endocrine neoplasms, with the overall goal of improving their classification and translating the data obtained into clinical practice. Specifically, this project aims to: 1. Characterize DNA methylation patterns in the solid tumors under investigation: this research aims to clarify the specific DNA methylation profiles associated with different types of solid tumors, allowing the identification of unique epigenetic signatures that may contribute to tumor classification; 2. Develop robust predictive models for the classification of the tumors studied; 3. Validate classification models using clinical data; 4. Assess the relevance of methylation-based tumor classification to determine the clinical utility of classification models; 5. Developing an easy-to-use clinical implementation framework.
Secondary Outcomes
No secondary outcomes reported
Investigators
Giovanni Tallini
Prof.
IRCCS Azienda Ospedaliero-Universitaria di Bologna