What is the role of genetic testing in the diagnosis and management of MEN syndromes?

Genetic testing plays a pivotal role in both the diagnosis and management of multiple endocrine neoplasia (MEN) syndromes NICE CKS. For individuals suspected of having MEN type 1 (MEN1), genetic testing involves identifying germline mutations in the MEN1 gene Pieterman & Valk 2022Del Rivero et al. 2025. Similarly, for MEN type 2 (MEN2), genetic testing focuses on detecting mutations in the RET proto-oncogene Norton et al. 2015. This diagnostic confirmation is crucial, especially in individuals presenting with characteristic clinical features or a family history of the syndrome Norton et al. 2015.

In terms of management, genetic testing enables several key strategies. It facilitates the identification of asymptomatic carriers within affected families, allowing for early intervention and risk stratification Norton et al. 2015. Knowledge of the specific genetic mutation guides tailored surveillance protocols for associated tumors, which includes regular biochemical screening and imaging Pieterman & Valk 2022Del Rivero et al. 2025. For instance, individuals with confirmed MEN1 mutations require lifelong surveillance for parathyroid, pancreatic, and pituitary tumors (Pieterman and Valk, 2022; Del Rivero et2025). Furthermore, in MEN2, specific RET mutations can indicate the necessity for prophylactic thyroidectomy due to the high risk of medullary thyroid carcinoma Norton et al. 2015. Genetic testing also supports genetic counseling for family members, enabling cascade testing and informed reproductive decisions Norton et al. 2015.