DICER1 syndrome is a rare, dominantly inherited hereditary tumour syndrome characterised by the development of specific rare types of benign and malignant tumours. The most frequently reported tumours are pleuropulmonary blastoma (PPB), cystic nephroma, multinodular goiter and certain rare types of ovarian tumours (see table).r
This risk management guideline has been developed for individuals who have NOT been diagnosed with a relevant cancer/tumour. The care of affected individuals should be individualised based on their clinical situation, and the monitoring they need as part of their treatment and post-treatment follow up.
The risk management of an individual with a pathogenic variant in two or more genes that confer a predisposition to cancer should also be individualised.