DICER1 syndrome
Pronunciation: DY-ser-one SIN-drohm
An autosomal dominant tumour predisposition syndrome caused by germline pathogenic variants in the DICER1 gene, associated with pleuropulmonary blastoma, cystic nephroma, and other rare tumours.
Full Definition
DICER1 syndrome arises from loss-of-function mutations in the DICER1 gene, which encodes a ribonuclease essential for microRNA processing. Affected individuals are predisposed to a spectrum of tumours including pleuropulmonary blastoma, cystic nephroma, Sertoli–Leydig cell tumours, multinodular goitre, and cervical embryonal rhabdomyosarcoma. The syndrome follows an autosomal dominant inheritance pattern with incomplete penetrance. In pathology reports and genetic summaries, 'DICER1' is always italicised when referring to the gene, but not when referring to the protein or syndrome. Editors must apply this gene-name italicisation rule consistently.
Usage
Usage note: Italicise the gene symbol (DICER1) but not the syndrome name when both appear in the same document.
In Context
- "Family history of cystic nephroma and pleuropulmonary blastoma prompted referral for DICER1 syndrome genetic testing." — Paediatric oncology referral letter
- "Per HGNC convention, the gene symbol DICER1 must be italicised in running text." — Manuscript style correction