Well-differentiated Sertoli-Leydig Cell Tumors (SLCTs) Are Not Associated with DICER1 Pathogenic Variants and Represent a Different Tumor Type to Moderately and Poorly Differentiated SLCTs

W. Glenn McCluggage, Barbara Rivera, Anne Sophie Chong, Blaise A. Clarke, Kris Ann P. Schultz, Louis P. Dehner, Nairi Tchrakian, Maria Apellaniz-Ruiz, C. Blake Gilks, Friedrich Kommoss, Colin J.R. Stewart, William D. Foulkes

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

Sertoli-Leydig cell tumors (SLCTs) are uncommon ovarian sex cord-stromal neoplasms which are currently classified into well, moderately, and poorly differentiated and retiform types. Well-differentiated SLCT is the least common and typically occurs in pure form, whereas moderately and poorly differentiated and retiform types often comprise a morphologic spectrum with an admixture of all 3. DICER1 pathogenic variants are very common in SLCTs but, as far as we are aware, have not been reported in well-differentiated neoplasms, although the number of cases studied is small due to the rarity of this neoplasm. We undertook DICER1 molecular testing in a cohort of 18 well-differentiated SLCTs and show all these to be DICER1 wild-type. None of the cases harbored the p.FOXL2 C134W hotspot mutation. Based upon the DICER1 molecular results, together with morphologic observations, we propose that well-differentiated SLCT is an unrelated neoplasm to the more common moderately/poorly differentiated and retiform SLCTs and is a fundamentally distinct and unrelated tumor type within the ovarian sex cord-stromal tumor family. The implications for tumor nomenclature and recommendations for future tumor classification are discussed within the context of tumors collectively known as SLCTs.

Original languageEnglish
Pages (from-to)490-496
Number of pages7
JournalAmerican Journal of Surgical Pathology
Volume47
Issue number4
DOIs
StatePublished - Apr 1 2023

Keywords

  • DICER1
  • molecular testing
  • ovary
  • well-differentiated Sertoli-Leydig cell tumor

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