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.

Endocrine
|May 17, 2023
PubMed
Abstract

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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