Somatic RET Indels in Sporadic Medullary Thyroid Cancer: Prevalence and Response to Selpercatinib.

Rossella Elisei Raffaele Ciampi Antonio MatroneAlessandro PreteCarla GambaleTeresa RamoneGeorge SimeakisGabriele MaterazziLiborio TorregrossaClara UgoliniCristina Romei

Published in: The Journal of clinical endocrinology and metabolism (2022)

These data show that RET indels are not infrequent and correlate with an aggressive disease. Two RET indel-positive patients showed a partial response to the treatment with a highly selective RET inhibitor; thus, these RET indels can be considered actionable mutations. In order to not miss these alterations, the analysis of the full gene is recommended.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
copy number
risk factors
prognostic factors
peritoneal dialysis
late onset
genome wide
big data
dna methylation
gene expression
early onset
amyotrophic lateral sclerosis
smoking cessation
deep learning