Journal du diabète et de la pratique clinique

Abstrait

The Application of Molecular Genetics in Multiple Thyroids Neoplasia Type 1 Screening

Aarunya Powell

Multiple endocrine neoplasia type 1 (MEN1) is a genetic disorder characterized by the development of tumors in multiple endocrine organs, including the thyroid gland. The application of molecular genetics has revolutionized the screening and diagnosis of MEN1-associated thyroid neoplasia. This abstract provides a concise overview of the key aspects of using molecular genetics in MEN1 screening, including genetic testing, predictive testing, carrier testing, and their prognostic and therapeutic implications. Genetic testing allows for the identification of mutations in the MEN1 gene, confirming the diagnosis of MEN1 and aiding in identifying at-risk family members. Predictive testing detects individuals who have inherited the MEN1 mutation but do not exhibit clinical signs, enabling early detection and preventive measures. Carrier testing helps identify individuals who carry the MEN1 mutation but do not develop the disorder, providing essential information for family planning and genetic counseling. Molecular genetic analysis of MEN1-associated thyroid neoplasms provides insights into prognosis and therapeutic strategies. Certain genetic alterations may indicate a higher risk of aggressive tumor behavior or resistance to specific treatments, guiding personalized treatment plans.