From the Research
The GLIS1/PAX8 gene fusion is primarily associated with thyroid cancer, specifically a rare subtype of thyroid carcinoma, as identified in recent studies 1. This genetic alteration occurs when the GLIS1 gene fuses with the PAX8 gene, creating an abnormal fusion protein that contributes to cancer development. The PAX8 gene normally plays an important role in thyroid development and function, while GLIS1 is involved in cellular differentiation. When these genes fuse, the resulting protein can disrupt normal cellular processes and promote tumor formation. Some studies have investigated the role of PAX8 in thyroid cancer, including its expression in papillary thyroid carcinoma 2 and its potential as a diagnostic marker 3, 4. Additionally, research has explored the involvement of other genes, such as PAX8-AS1, in the regulation of thyroid cancer cell behavior 5. However, the most recent and relevant study highlights the significance of the GLIS1/PAX8 gene fusion in thyroid cancer diagnosis and potential treatment 1. Key points to consider include:
- The GLIS1/PAX8 gene fusion is a distinct molecular subtype of thyroid carcinoma
- This genetic alteration is associated with thyroid cancer development and progression
- Molecular testing can identify this gene fusion, which may have implications for targeted therapy approaches
- The GLIS1/PAX8 gene fusion is found in almost 100% of hyalinising trabecular tumours of the thyroid gland, enabling its separation from papillary thyroid cancer 1