Prevalence, Molecular Landscape, and Clinical Impact of DICER1 and DGCR8 Mutated Follicular-Patterned Thyroid Nodules.

Vincenzo Condello Anello Marcello Poma Elisabetta MacerolaPaola VignaliJohan O Paulsson Jan Zedenius Fulvio Basolo Carl Christofer Juhlin

Published in: The Journal of clinical endocrinology and metabolism (2024)

DICER1 and DGCR8 hotspot mutations are rare in unselected cohorts of FTs, and mutated cases exhibit a specific miRNA profile. Although DGCR8 mutations may coexist with established RAS gene alterations, FTs with DICER1 variants were devoid of other driver gene events.

Keyphrases

copy number
wild type
genome wide
genome wide identification
risk factors
dna methylation
single cell
gene expression