TY - JOUR T1 - Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of <em>DICER1</em> syndrome JF - Journal of Medical Genetics JO - J Med Genet SP - 346 LP - 350 DO - 10.1136/jmedgenet-2020-107434 VL - 59 IS - 4 AU - Lisa Golmard AU - Lauren M Vasta AU - Valérie Duflos AU - Carole Corsini AU - Catherine Dubois d'Enghien AU - Mary L McMaster AU - Laura A Harney AU - Ann G Carr AU - Alexander Ling AU - Frédérique Dijoud AU - Arnaud Gauthier AU - Markku Miettinen AU - Nicholas G Cost AU - Marion Gauthier-Villars AU - Daniel Orbach AU - Sabine Irtan AU - Stéphanie Haouy AU - Kris Ann Schultz AU - Dominique Stoppa-Lyonnet AU - Isabelle Coupier AU - Douglas R Stewart AU - Nicolas Sirvent Y1 - 2022/04/01 UR - http://jmg.bmj.com/content/59/4/346.abstract N2 - 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. ER -