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Updated: Jul 30, 2025

Computer-Aided Three-Dimensional Visualization in the Treatment of Locally Advanced Thyroid Cancer
Published on: June 9, 2023
Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing
Rossella Elisei1, Cristina Romei2
1Unit of Endocrinology, Department of Clinical and Experimental Medicine, University-Hospital of Pisa, 56124, Pisa, Italy. rossella.elisei@med.unipi.it.
Purpose:
Thyroid carcinoma (TC) is a rare neoplasia of the endocrine system and account for about 2-3% of all human tumors. According to their cell origin and histological features, different histotypes of thyroid carcinoma are described. Genetic alterations involved in the pathogenesis of thyroid cancer have been described and it has been shown that alterations of the RET gene are common events in all TC hystotypes. Aim of this review is to give an overview of the relevance of RET alterations in TC and to provide indications, timing and methodologies, for RET genetic analysis.
Methods:
A revision of the literature has been performed and indications for the experimental approach for the RET analysis have been reported.
Conclusions:
The analysis of RET mutations in TC has a very important clinical relevance for the early diagnosis of the hereditary forms of MTC, for the follow-up of TC patients and for the identification of those cases that can benefit from a specific treatment able to inhibit the effect of mutated RET.
Insights
RET gene alterations are common in thyroid carcinoma (TC). Analyzing RET mutations aids in early diagnosis, patient follow-up, and targeted therapies for TC, improving patient outcomes.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Thyroid carcinoma (TC) is a rare endocrine neoplasia, comprising 2-3% of human tumors.
- Distinct histotypes of TC arise from specific cell origins and exhibit unique histological features.
- Genetic alterations, particularly in the RET gene, are frequently implicated in TC pathogenesis across all histotypes.
Purpose of the Study:
- To review the significance of RET alterations in thyroid carcinoma.
- To provide guidance on the indications, timing, and methodologies for RET genetic analysis.
Main Methods:
- A comprehensive literature revision was conducted.
- Indications for experimental RET analysis were identified and reported.
Main Results:
- RET gene alterations are prevalent in various thyroid carcinoma histotypes.
- RET analysis is crucial for diagnosing hereditary forms of medullary thyroid carcinoma (MTC).
Conclusions:
- RET mutation analysis holds significant clinical relevance for early diagnosis of hereditary MTC.
- It is vital for the follow-up of TC patients.
- It helps identify patients who can benefit from specific treatments targeting mutated RET.
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