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Epigenomics in Hurthle Cell Neoplasms: Filling in the Gaps Towards Clinical Application
Sule Canberk1,2,3, Ana Rita Lima1,2,4, Mafalda Pinto1,2
1Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal.
Abstract:
It has been widely described that cancer genomes have frequent alterations to the epigenome, including epigenetic silencing of various tumor suppressor genes with functions in almost all cancer-relevant signalling pathways, such as apoptosis, cell proliferation, cell migration and DNA repair. Epigenetic alterations comprise DNA methylation, histone modification, and microRNAs dysregulated expression and they play a significant role in the differentiation and proliferation properties of TC. In this review, our group assessed the published evidence on the tumorigenic role of epigenomics in Hurthle cell neoplasms (HCN), highlighting the yet limited, heteregeneous and non-validated data preventing its current use in clinical practice, despite the well developed assessment techniques available. The identified evidence gaps call for a joint endeavour by the medical community towards a deeper and more systematic study of HCN, aiming at defining epigenetic markers in early diagnose, allowing for accurate stratification of maligancy and disease risk and for effective systemic treatment.
Insights
Epigenetic alterations are common in cancer, but data on their role in Hurthle cell neoplasms (HCN) is limited. Further research is needed to define epigenetic markers for early diagnosis and treatment of HCN.
Area of Science:
- Oncology
- Epigenetics
- Genomics
Background:
- Cancer genomes frequently exhibit epigenome alterations, including tumor suppressor gene silencing.
- Epigenetic modifications like DNA methylation and histone modification impact cell differentiation and proliferation.
- These changes are crucial in various cancer-relevant signaling pathways.
Purpose of the Study:
- To review and assess published evidence on the role of epigenomics in Hurthle cell neoplasms (HCN).
- To highlight data limitations and gaps in the current understanding of HCN epigenetics.
- To emphasize the need for further research to enable clinical application.
Main Methods:
- Systematic review of published literature on epigenomics in Hurthle cell neoplasms.
- Assessment of current evidence regarding the tumorigenic role of epigenetic alterations in HCN.
- Identification of data heterogeneity and validation status.
Main Results:
- Evidence on the epigenomic role in HCN is currently limited, heterogeneous, and not clinically validated.
- Despite available assessment techniques, epigenomic data is insufficient for practical clinical use in HCN.
- Significant gaps exist in the systematic study of HCN epigenomics.
Conclusions:
- A collaborative effort is required to conduct deeper, systematic studies on HCN epigenomics.
- The goal is to identify reliable epigenetic markers for early diagnosis and malignancy stratification.
- Establishing these markers could lead to improved disease risk assessment and effective systemic treatments for HCN.
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