DICER1 mutation in recurrent ovarian Sertoli-Leydig cell tumor: a case report

Published:November 15, 2022DOI:



      : DICER1 mutation has been linked to development of Sertoli-Leydig cell tumor and cystic nephroma, among other neoplasms.


      : We present a unique case of recurrent ovarian Sertoli-Leydig cell tumor in a pediatric patient with a known DICER1 mutation and history of cystic nephroma. She underwent surgical staging and adjuvant chemotherapy and her recurrences have been treated with chemotherapy, whole abdomen radiation therapy, and further surgical debulking.


      : This report adds to the small body of evidence about this rare but unexpectedly highly aggressive tumor, especially in the recurrent setting, and reminds the reader of the importance of cancer diagnosis in this population.

      MeSH keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to Journal of Pediatric and Adolescent Gynecology
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Koonings PP
        • Campbell K
        • Mishell JD
        • et al.
        Relative frequency of primary ovarian neoplasms: a 10-year review.
        Obstet Gynecol. 1989; 74: 921-926
        • Young RH
        • Scully RE.
        Ovarian Sertoli-Leydig cell tumors. a clinicopathological analysis of 207 cases.
        Am J Surg Pathol. 1985; 9: 543-569
        • de Kock L
        • Terzic T
        • McCluggage WG
        • et al.
        DICER1 mutations are consistently present in moderately and poorly differentiated Sertoli-Leydig cell tumors.
        Am J Surg Pathol. 2017; 41: 1178-1187
        • Slade I
        • Bacchelli C
        • Davies H
        • et al.
        DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.
        J Med Genet. 2011; 48: 273-278
        • Schultz KAP
        • Williams GM
        • Kamihara J
        • et al.
        DICER1 and associated conditions: identification of at-risk individuals and recommended surveillance strategies.
        Clin Cancer Res. 2018; 24: 2251-2261
        • Silver IM
        • Boag AH
        • Soboleski DA.
        Multilocular cystic renal tumor: cystic nephroma.
        Radiographics. 2008; 28: 1221-1225
        • Witkowski L
        • Mattina J
        • Schönberger S
        • et al.
        DICER1 hotspot mutations in non-epithelial gonadal tumours.
        Brit J Cancer. 2013; 109: 2744-2750
        • Doros LA
        • Rossi CT
        • Yang J
        • et al.
        DICER1 mutations in childhood cystic nephroma and its relationship to dicer1-renal sarcoma.
        Modern Pathol. 2014; 27: 1267-1280