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.

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.