Author(s) :

Amandine Becle.

Volume/Issue :

Abstract :

MEN2 is a rare autosomal dominant endocrine cancer syndrome caused by germline mutations in the RET proto-oncogene and includes three subtypes — MEN2A, MEN2B and fMTC — which all carry the risk of medullary thyroid carcinoma (MTC) in infants. This narrative review synthesizes current research on RET mutations, malignancy risk, long-term outcomes, current treatments and newborn screening ethics. Findings indicate that the malignancy risk is largely related to the RET mutation subtype, with MEN2A being the most common accounting for 55% of cases and MEN2B presenting the most aggressive progression in infancy. An early diagnosis done through the use of CT and CEA biomarkers leads to an early form of treatment, usually an early prophylactic thyroidectomy and substantially decreases the risk of metastasis and mortality, though lifelong surveillance is required for some possible long-term outcomes. In addition, the diagnosis of MEN2A in infants often requires screening which raises many important ethical, clinical and social dilemmas especially in parental decision-making and equitable care. The review highlights the importance of genetic testing for at-risk infants and timely surgery to reduce mortality. Disparities in healthcare access and strengthening long term outcomes to improve care for children with MEN2 could be addressed in future research.