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DGCR8 Microprocessor Subunit Mutation and Expression Deregulation in Thyroid Lesions.

Lia RodriguesSule CanberkSofia MacedoPaula SoaresJoão Vinagre
Published in: International journal of molecular sciences (2022)
DGCR8 emerged recently as miRNAs biogenesis pathway protein with a highlighted role in thyroid disease. This study aimed to characterize this miRNA biogenesis component, in particular the p.(E518K) mutation and DGCR8 expression in a series of thyroid lesions. The series of thyroid lesions was genotyped for the c.1552G>A p.(E518K) mutation. When frozen tissue was available, DGCR8 mRNA expression was analysed by qPCR. Formalin-fixed paraffin-embedded tissues were studied for DGCR8 immunoexpression. We present for the first time the p.(E518K) mutation in a case of poorly differentiated thyroid carcinoma and present the deregulation of DGCR8 expression at mRNA level in follicular-patterned tumours. The obtained data solidify DGCR8 as another important player of miRNA-related gene mutations in thyroid tumorigenesis, particularly in follicular-patterned thyroid tumours.
Keyphrases
  • poor prognosis
  • binding protein
  • gene expression
  • machine learning
  • electronic health record
  • data analysis
  • drug induced