Molecular Basis and Natural History of Medullary Thyroid Cancer: It is (Almost) All in the RET.

ABSTRACT: Medullary thyroid cancer (MTC) is a rare disease, which can be either sporadic (roughly 75% of cases) or genetically determined (multiple endocrine neoplasia type 2, due to REarranged during Transfection RET germline mutations, 25% of cases). Interestingly, RET pathogenic variants (mainly M918T) have also been reported in aggressive forms of sporadic MTC, suggesting the importance of RET signalling pathways in the pathogenesis of MTC. The initial theory of RET codon-related MTC aggressiveness has been recently questioned by studies suggesting that this would only define the age at disease onset rather than the aggressiveness of MTC. Other factors might however impact the natural history of the disease, such as RET polymorphisms, epigenetic factors, enviro

SUBMITTER: Sahakian N 

PROVIDER: S-EPMC10572078 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature