[The RET gene and medullary thyroid cancer: from mutations to the planning of therapy]

Area of Science:

• Genetics
• Oncology
• Molecular Biology

Background:

• The RET gene encodes a tyrosine kinase receptor crucial for embryogenesis.
• RET proto-oncogene mutations are linked to medullary thyroid cancer (MTC) and multiple endocrine neoplasia type 2 (MEN2).
• Over 50 germline point mutations in RET are documented, with established genotype-phenotype correlations.

Purpose of the Study:

• To review the literature on RET gene mutations and their clinical implications.
• To highlight the role of genetic testing in predicting MTC and MEN2.
• To discuss the impact of codon-oriented prophylactic surgery on patient outcomes.

Main Methods:

• Literature review of laboratory, genetic, and clinical research on RET mutations.
• Analysis of genotype-phenotype correlations in MTC and MEN2.
• Evaluation of risk stratification based on specific RET mutations.

Main Results:

• Genetic testing accurately predicts cancer onset, age of onset, and aggressiveness.
• Three distinct risk levels have been identified based on specific RET mutations.
• Codon-oriented prophylactic surgery strategies have been developed.

Conclusions:

• Advances in RET gene research have significantly improved the understanding and management of MTC.
• Genetic and clinical research have led to reduced MTC-related mortality.
• Personalized surgical approaches based on genetic profiles are effective.