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Published on: September 19, 2018
Thyroid tumor marker genomics and proteomics: diagnostic and clinical implications
Angelo Carpi1, Jeffrey I Mechanick, Sven Saussez
1Department of Reproduction and Ageing, University of Pisa, Pisa, Italy. a.carpi@med.unipi.it
Genomics and proteomics enhance thyroid tumor marker (TTM) analysis, revealing genetic mutations and protein patterns in thyroid cancers. Overcoming challenges like sample size is key for targeted therapies.
Area of Science:
- Systems biology
- Molecular oncology
- Biomarker discovery
Background:
- Genomics and proteomics offer advanced insights into thyroid tumor markers (TTM).
- Understanding molecular alterations is crucial for thyroid cancer pathogenesis and targeted therapies.
Purpose of the Study:
- To review the application of genomics and proteomics in optimizing thyroid tumor marker (TTM) utilization.
- To discuss the potential and challenges of integrating these systems biology approaches into clinical practice.
Main Methods:
- Tissue microarray studies for genetic mapping and proteomic profiling of TTM.
- Analysis of genetic mutations (RAS, RET, BRAF) and gene fusions (PAX 8, PPAR-gamma) in thyroid cancers.
- Proteomic analysis to understand the state of thyroid cancer cells.
Main Results:
- Specific genetic mutations are associated with papillary and medullary thyroid cancers.
- Gene fusions are identified in follicular thyroid cancers.
- Proteomic data provides insights into cancer cell molecular states.
Conclusions:
- Genomic and proteomic analyses can clarify thyroid cancer pathogenesis and guide targeted therapies.
- Obstacles to routine TTM use include interpretation issues, standardization, and cost.
- Large needle aspiration biopsy (LNAB) techniques may improve diagnostic accuracy, as seen with galectin-3.
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