Outcomes in ovarian Sertoli-Leydig cell tumor: A report from the International Pleuropulmonary Blastoma/DICER1 and Ovarian and Testicular Stromal Tumor Registries

Gynecol Oncol. 2024 Jul:186:117-125. doi: 10.1016/j.ygyno.2024.04.005. Epub 2024 Apr 23.

Abstract

Objective: Sertoli-Leydig cell tumors (SLCTs) are rare sex cord-stromal tumors, representing <0.5% of all ovarian tumors. We sought to describe prognostic factors, treatment and outcomes for individuals with ovarian SLCT.

Methods: Individuals with SLCT were enrolled in the International Pleuropulmonary Blastoma/DICER1 Registry and/or the International Ovarian and Testicular Stromal Tumor Registry. Medical records were systematically abstracted, and pathology was centrally reviewed when available.

Results: In total, 191 participants with ovarian SLCT enrolled, with most (92%, 175/191) presenting with FIGO stage I disease. Germline DICER1 results were available for 156 patients; of these 58% had a pathogenic or likely pathogenic germline variant. Somatic (tumor) DICER1 testing showed RNase IIIb hotspot variants in 97% (88/91) of intermediately and poorly differentiated tumors. Adjuvant chemotherapy was administered in 40% (77/191) of cases, and among these, nearly all patients received platinum-based regimens (95%, 73/77), and 30% (23/77) received regimens that included an alkylating agent. Three-year recurrence-free survival for patients with stage IA tumors was 93.6% (95% CI: 88.2-99.3%) compared to 67.1% (95% CI: 55.2-81.6%) for all stage IC and 60.6% (95% CI: 40.3-91.0%) for stage II-IV (p < .001) tumors. Among patients with FIGO stage I tumors, those with mesenchymal heterologous elements treated with surgery alone were at higher risk for recurrence (HR: 74.18, 95% CI: 17.99-305.85).

Conclusion: Most individuals with SLCT fare well, though specific risk factors such as mesenchymal heterologous elements are associated with poor prognosis. We also highlight the role of DICER1 surveillance in early detection of SLCT, facilitating stage IA resection.

Keywords: DICER1; DICER1-related tumor predisposition; Gynandroblastoma; Sertoli-Leydig cell tumor; Sex cord-stromal tumor.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Chemotherapy, Adjuvant
  • DEAD-box RNA Helicases* / genetics
  • Female
  • Humans
  • Lung Neoplasms / pathology
  • Lung Neoplasms / surgery
  • Male
  • Middle Aged
  • Ovarian Neoplasms* / pathology
  • Ovarian Neoplasms* / surgery
  • Pulmonary Blastoma* / pathology
  • Registries*
  • Ribonuclease III* / genetics
  • Sertoli-Leydig Cell Tumor* / pathology
  • Sertoli-Leydig Cell Tumor* / surgery
  • Sex Cord-Gonadal Stromal Tumors / diagnosis
  • Sex Cord-Gonadal Stromal Tumors / pathology
  • Sex Cord-Gonadal Stromal Tumors / surgery
  • Testicular Neoplasms / pathology
  • Testicular Neoplasms / surgery
  • Young Adult

Substances

  • DEAD-box RNA Helicases
  • DICER1 protein, human
  • Ribonuclease III

Supplementary concepts

  • Pleuropulmonary blastoma