There is no published evidence regarding the benefit of screening for unaffected individuals with a DICER1 pathogenic variant. Surveillance strategies have recently been proposed on the basis that manifestations of DICER1 such as pleuropulmonary blastoma (PPB) evolve from benign cystic lesions amenable to early detection and intervention towards malignant lesions with poorer prognosis.rrr An analytic model of diagnostic imaging screening strategies for PPB screening predicts improved life expectancy in children screened for PPB with combined chest X-rays and CT-scans.r Larger studies are needed to assess the clinical validity of screening in DICER1, particularly for rarer manifestations. Enrolment in clinical trials and participation in the International Pleuropulmonary Blastoma/DICER1 Registry is encouraged whenever possible.r
The risk of Wilms tumour/kidney sarcoma is low and it is unclear if a normal ultrasound and/or resection of cystic nephroma in early childhood is associated with a lower risk of later renal malignancy.
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. Surveillance imaging may reduce higher stage presentation and the need for adjuvant therapy although the efficacy is still to be determined.rr
Multinodular goitre (MNG) is common in DICER1 syndrome. 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.