MEN2 phenotype in a family with germline heterozygous rare RET K666N variant.

Amanda La GrecaD DawesM Albuja-CruzC RaeburnL AxellL KuC KleinC MarshallL Fishbein

Published in: Endocrinology, diabetes & metabolism case reports (2024)

The specific RET germline heterozygous variant K666N is rare and described in very few families, and in most cases, patients were diagnosed with a very indolent MTC as the only feature. Our proband is much younger and has PHEO, MTC, and PHPT. The RET K666N germline variant appears to be a low penetrance variant for MEN2.

Keyphrases

dna repair
end stage renal disease
early onset
newly diagnosed
ejection fraction
chronic kidney disease
machine learning
middle aged
peritoneal dialysis
patient reported outcomes
patient reported