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Updated: Sep 27, 2025
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Predictive molecular pathology in metastatic thyroid cancer: the role of RET fusions
Mariantonia Nacchio1, Pasquale Pisapia1, Francesco Pepe1
1Department of Public Health, University of Naples Federico II, Naples, Italy.
Background:
Rearranged during transfection (RET) gene fusions are detected in 10-20% of thyroid cancer patients. Recently, RET fusion-positive metastatic thyroid cancers have attracted much attention owing to the FDA approval of two highly selective anti-RET tyrosine kinase inhibitors, namely, selpercatinib, and pralsetinib.
Areas Covered:
This review summarizes the available evidence on the biological and predictive role of RET gene fusions in thyroid carcinoma patients and the latest screening assays currently used to detect these genomic alterations in histological and cytological specimens.
Expert Opinion:
Management of advanced thyroid carcinoma has significantly evolved over the last decade thanks to the approval of three multikinase inhibitors, i.e. sorafenib, lenvatinib, cabozantinib, and of two selective RET-tyrosine inhibitors, i.e. selpercatinib and pralsetinib. In this setting, the detection of RET-fusions in advanced thyroid cancer specimens through the use of next-generation sequencing has become a commonly used strategy in clinical practice to select the best treatment options.
Insights
Rearranged during transfection (RET) gene fusions are key in thyroid cancer. New targeted therapies like selpercatinib and pralsetinib offer improved treatment for RET fusion-positive metastatic thyroid cancer patients.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Rearranged during transfection (RET) gene fusions are identified in 10-20% of thyroid cancer cases.
- RET fusion-positive metastatic thyroid cancers are gaining attention due to new targeted therapies.
Purpose of the Study:
- To review the biological and predictive significance of RET gene fusions in thyroid carcinoma.
- To discuss current screening assays for detecting RET gene alterations in various specimens.
Main Methods:
- Literature review of existing evidence on RET gene fusions in thyroid cancer.
- Analysis of current diagnostic and screening methodologies.
Main Results:
- RET gene fusions play a crucial role in thyroid cancer development and progression.
- Next-generation sequencing is a standard method for detecting RET fusions in clinical practice.
- Selective RET inhibitors demonstrate efficacy in treating advanced thyroid cancer.
Conclusions:
- Understanding RET gene fusions is vital for personalized thyroid cancer treatment.
- Effective screening for RET fusions enables targeted therapy selection.
- Advances in targeted therapies have transformed the management of advanced thyroid cancer.
