<i>RET</i> Y791F in MEN2: a variant presumed non-pathogenic, yet lacking conclusive evidence of insignificance.

ABSTRACT:

Background

Patients with rearranged-during-transfection (RET) mutations may develop aggressive medullary thyroid carcinoma (MTC), pheochromocytoma (PCC) and primary hyperparathyroidism (PHPT) within the multiple endocrine neoplasia 2 (MEN2) syndrome, depending on the specific genotype. The Y791F variant has been subject to studies over time but opinions on how to deal with it differ. Pathogenicity could never be proven, nor entirely ruled out. This study aims to contribute to the assessment of its importance and necessity for clinical surveillance.

Methods

Thirty-six patients with a pathogenic variant in codon Y791F were analysed in this retrospective clinical and biochemical follow-up study in terms of their clinical manifestation. The patients were diagnosed within

SUBMITTER: Binter T 

PROVIDER: S-EPMC12261242 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature