Sertoli-Leydig cell tumor with DICER1 mutation

A Sertoli-Leydig ovarian tumor presenting as ovarian torsion: A case report

“…There are three distinct categories of SLCTs, based on the compositions of Sertoli and Leydig cells: pure stromal tumors, pure sex cord tumors, and mixed sex cord-stromal tumors [ 4 ]. Many of these tumors demonstrate hormonal activity corresponding to their cell origin, and have the capacity to produce testosterone [ 5 ], often resulting in hyperandrogenism in adolescents [ 4 ], with hormonal-related symptoms including hirsutism, clitoromegaly, voice deepening, and acne [ 6 ]. 50% of SLCTs do not exhibit endocrine symptoms, and patients commonly present with symptoms such as abdominal discomfort or pain, ascites, or tumor rupture [ 3 ].…”

“…DICER1 gene testing is recommended, given that more than 90% of SLCT patients exhibit DICER1 mutations [ 5 ]. These genetic alterations can lead to changes in microRNA expression, affecting ovarian tissue by disrupting the regulation of genes responsible for gonadal differentiation and cell proliferation [ 13 ].…”

“…These genetic alterations can lead to changes in microRNA expression, affecting ovarian tissue by disrupting the regulation of genes responsible for gonadal differentiation and cell proliferation [ 13 ]. Specifically, there is a downregulation of crucial genes for ovarian development, an upregulation of genes promoting Sertoli cell differentiation, and a suppression of CYP19A1, which diminishes aromatase activity and thus exerts an androgenic effect [ 5 ]. A diagnosis of SLCT should prompt referral to a clinical genetics service due to potential germline mutation and familial malignancy risk, with knowledge of a DICER1 mutation informing both current tumor management and future cancer risk assessment [ 13 ].…”