Article
Genotype/phenotype correlations in multiple endocrine neoplasia type 2.
Endocrine-related cancer - 1 Dec 2024
Castinetti Frederic, Eng Charis
Abstract excerpt
Abstract: Multiple endocrine neoplasia type 2 (MEN 2) is a rare hereditary endocrine tumor syndrome caused by mutations in the rearranged during transfection (RET) gene. MEN 2 is divided into two main entities, MEN 2A and MEN 2B, both of which present with medullary thyroid cancer (MTC) in approximately 100% of cases and pheochromocytoma in 50% of cases. Specific RET mutations are associated with a risk of early...
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