A consensus of expert opinion regarding surveillance consideration was proposed,r however there is currently no published evidence on the benefit of screening in adults with a DICER1 pathogenic variant.
Female reproductive tract
Sertoli-Leydig cell tumour of the ovary (SLCT) can occur from early childhood to late adulthood with a peak incidence between age 10 and 25 years with ~95% of cases being diagnosed before age 40 years. Surveillance imaging may reduce higher stage presentation and the need for adjuvant therapy although the efficacy is still to be determined.rr As peak incidence of ovarian sex-cord stromal tumours exceeds the age of 20 years, symptom education and prompt reporting of symptoms is recommended.r
Multinodular goiter (MNG) is common in DICER1. Differentiated thyroid cancer has been described in individuals with DICER1 syndrome, but the cumulative incidence is unknown.r Neck palpation in combination with thyroid ultrasound has been recommended as surveillance modalities for DICER1 pathogenic variant carriers. Most thyroid cancers are indolent and confined to the thyroid. To date there is no evidence of benefit of thyroid ultrasounds and overdiagnosis and overtreatment remains a concern. Thyroid ultrasound should not be performed more than once every 3 years if baseline ultrasound does not show suspicious nodules.
To date there is no evidence to suggest that treatment outcomes for individuals with germline DICER1 pathogenic variants differ from historical outcomes for the same diseases, although outcomes of therapy for the various tumours associated with DICER1 pathogenic variant have not been rigorously studied.