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Multinodular goitre is a gateway for molecular testing of DICER1 syndrome.

Isabelle Oliver-PetitAnne-Isabelle BertozziSolange GrunenwaldMarion GambartPatricia Pigeon-KerchicheJean-Louis SadoulPhilippe J CaronFrédérique Savagner
Published in: Clinical endocrinology (2019)
Multinodular goitre is uncommon in children. Childhood-onset MNG, multiple occurrences of the disease within the same family, or its association with rare benign or malignant tumours should raise suspicions of anomalies in the DICER1 gene, as proposed by recent international recommendations. Early detection of DICER1 pathogenic variants has important consequences in terms of therapeutic strategy, early tumour screening, and genetic counselling.
Keyphrases
  • copy number
  • genome wide
  • young adults
  • clinical practice
  • dna methylation
  • childhood cancer
  • gene expression
  • early life
  • genome wide identification
  • human immunodeficiency virus