Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing

• Published in: Endocrine 2023-08, Vol.81 (2), p.206-215
• Main Authors: Elisei, Rossella, Romei, Cristina
• Format: Article
• Language: English
• Subjects: Carcinoma, Medullary; Clinical Relevance; Diabetes; Endocrine system; Endocrinology; Genetic analysis; Humanities and Social Sciences; Humans; Internal Medicine; Medicine; Medicine & Public Health; multidisciplinary; Multiple Endocrine Neoplasia Type 2a; Mutation; Proto-Oncogene Mas; Proto-Oncogene Proteins c-ret - genetics; Ret protein; Review; Science; Thyroid cancer; Thyroid carcinoma; Thyroid Neoplasms - diagnosis; Thyroid Neoplasms - genetics
• ISSN: 1559-0100; 1355-008X; 1559-0100
• DOI: 10.1007/s12020-023-03368-w

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 .