DICER1 syndrome is a rare paediatric autosomal dominant inherited disorder predisposing to various benign and malignant tumours. It is caused by a germline pathogenic variant in DICER1, and the second hit for tumour development is usually a missense hotspot pathogenic variant in the DICER1 ribonuclease IIIb domain. While DICER1 predisposing variants account for about 60% of ovarian Sertoli-Leydig cell tumours, no DICER1-related testicular stromal tumours have been described. Here we report the first two cases of testicular stromal tumours in children carrying a DICER1 germline pathogenic variant: a case of Sertoli cell tumour and a case of Leydig cell tumour diagnosed at 2 and 12 years of age, respectively. A somatic DICER1 hotspot pathogenic variant was detected in the Sertoli cell tumour. This report extends the spectrum of DICER1-related tumours to include testicular Sertoli cell tumour and potentially testicular Leydig cell tumour. Diagnosis of a testicular Sertoli cell tumour should prompt DICER1 genetic testing so that patients with a DICER1 germline pathogenic variant can benefit from established surveillance guidelines. DICER1 genetic evaluation may be considered for testicular Leydig cell tumour. Our findings suggest that miRNA dysregulation underlies the aetiology of some testicular stromal tumours.
- medical oncology
- genetic predisposition to disease
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LG and LMV contributed equally.
DRS and NS contributed equally.
Contributors LG wrote the draft of the manuscript. LMV wrote the draft of case 2 description. VD, CC, CDd’E, FD, AG, MGV, DO, SI, SH, DS-L, IC and NS collected and analysed the data for case 1. LMV, MLM, LAH, AGC, AL, MM, NGC, KAS and DRS collected and analysed the data for case 2. NS supervised case 1 description. DRS supervised case 2. All authors reviewed the manuscript and approved the final version.
Funding This work was supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics of the National Cancer Institute, Bethesda, MD.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.