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Updated: Feb 27, 2026

An Integrated Platform for Genome-wide Mapping of Chromatin States Using High-throughput ChIP-sequencing in Tumor Tissues
Published on: April 5, 2018
Precision medicine based on epigenomics: the paradigm of carcinoma of unknown primary
Sebastián Moran1, Anna Martinez-Cardús1, Stergios Boussios2
1Cancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), Avinguda Gran Via 199-203, 08908 L'Hospitalet del Llobregat, Barcelona, Spain.
Abstract:
Epigenetic alterations are a common hallmark of human cancer. Single epigenetic markers are starting to be incorporated into clinical practice; however, the translational use of these biomarkers has not been validated at the 'omics' level. The identification of the tissue of origin in patients with cancer of unknown primary (CUP) is an example of how epigenomics can be incorporated in clinical settings, addressing an unmet need in the diagnostic and clinical management of these patients. Despite the great diagnostic advances made in the past decade, the use of traditional diagnostic procedures only enables the tissue of origin to be determined in ∼30% of patients with CUP. Thus, development of molecularly guided diagnostic strategies has emerged to complement traditional procedures, thereby improving the clinical management of patients with CUP. In this Review, we present the latest data on strategies using epigenetics and other molecular biomarkers to guide therapeutic decisions involving patients with CUP, and we highlight areas warranting further research to engage the medical community in this unmet need.
Insights
Epigenomic biomarkers can identify the tissue of origin in cancer of unknown primary (CUP), improving diagnosis and treatment. Further research is needed to integrate these
Area of Science:
- Oncology
- Epigenetics
- Molecular Diagnostics
Background:
- Epigenetic alterations are key features of cancer.
- Current diagnostic methods identify the tissue of origin in only ~30% of cancer of unknown primary (CUP) cases.
- Translational use of epigenetic biomarkers requires 'omics'-level validation.
Purpose of the Study:
- To review the latest data on epigenetics and molecular biomarkers for guiding therapeutic decisions in CUP.
- To highlight research gaps and encourage medical community engagement for unmet needs in CUP management.
Main Methods:
- Review of current literature on epigenomic and molecular biomarker strategies for CUP.
- Analysis of diagnostic advancements and their limitations in CUP.
- Discussion of the clinical utility of epigenetics in oncology.
Main Results:
- Epigenomic approaches show promise for improving the identification of the tissue of origin in CUP.
- Molecularly guided strategies can complement traditional diagnostics, enhancing CUP patient management.
- Significant unmet needs remain in the clinical application of these advanced biomarkers.
Conclusions:
- Epigenetics offers a powerful tool to address the diagnostic challenges in CUP.
- Integrating epigenomic data into clinical practice can significantly improve patient outcomes.
- Further research and validation are crucial for widespread adoption of these novel biomarkers.
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