Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome

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.

Source: Journal of Medical Genetics - March 23, 2022 Category: Genetics & Stem Cells Authors: Golmard, L., Vasta, L. M., Duflos, V., Corsini, C., Dubois d'Enghien, C., McMaster, M. L., Harney, L. A., Carr, A. G., Ling, A., Dijoud, F., Gauthier, A., Miettinen, M., Cost, N. G., Gauthier-Villars, M., Orbach, D., Irtan, S., Haouy, S., Schultz, K. A., Tags: Cancer genetics Source Type: research