Gene: DICER1
PMCID: PMC8451242
PMID: 34552563
Pathogenic
Inheritance Pattern: Autosomal Dominant
MultipleDiseaseEntities
Disease Entity: DICER1 syndrome, multinodular goitre, cystic nephroma, anaplastic renal sarcoma, Wilms tumour, differentiated thyroid carcinoma, gynandroblastoma, ciliary body medulloepithelioma, embryonal rhabdomyosarcoma, pineoblastoma, pituitary blastoma, kidney cyst, pulmonary cyst, Sertoli-Leydig Cell Tumor.
Mutation: Germline
MultipleGeneVariants
Variant & Clinvar IDs: c.3452_3453del (485534), c.316del (no ClinVar ID), c.171_172insAC (no ClinVar ID), c.3434del (no ClinVar ID), c.988C>T (933007), c.5388dup (no ClinVar ID)
Zygosity: None provided.
Case: At time of operation, the goitre patients living in Denmark were ages 21, 12, 21, 8, 14, and 16. Four underwent total thyroidectomies, and two underwent partial thyroidectomies. The patient originally aged 21 previously had a kidney cyst at age 14 and a pulmonary cyst at an unknown age. The patient aged 14 at time of partial thyroidectomy later manifested a Sertoli-Leydig Cell Tumor at age 15. All six patients were female.
CasePresentingHPO: None provided.
CasePreviousTesting: thyroidectomy
gnomAD: ENSG00000100697.10, https://gnomad.broadinstitute.org/gene/ENSG00000100697
Mutation Type: Frameshift, Nonsense