Synchronous Ovarian Sertoli–Leydig Cell and Clear Cell Papillary Renal Cell Tumors: A Rare Case Without Mutations in Cancer-Associated Genes

Sep 24, 2026

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Synchronous Ovarian Sertoli–Leydig cell tumors together with clear cell papillary renal cell carcinoma occurred in a single 40-year-old woman, representing a rare ovarian–renal tumor association with unclear mechanisms. Both tumors were managed surgically after hormonal testing, imaging, and molecular workup. Comprehensive genetics included DICER1 mutation screening and analysis of over 280 cancer-related genes using WES/MLPA and an NGS panel. No pathogenic variants or clinically relevant alterations were detected, supporting a sporadic event or undetermined mechanisms and emphasizing multidisciplinary care and long-term surveillance.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages10

Reading Time25 min

AccessFree to download

Introduction

Case description and significance

Methods

Surgical treatment

Diagnostic workup

Results

Histopathologic findings

Genetic testing and mutation status

Conclusions

Clinical implications and surveillance

Case Report Synchronous Ovarian Sertoli–Leydig Cell and Clear Cell Papillary Renal Cell Tumors: A Rare Case Without Mutations in Cancer-Associated Genes Manuela Macera 1, Simone Morra 2, Mario Ascione 3, Daniela Terracciano 4, Monica Ianniello 5, Giovanni Savarese 5, Carlo Alviggi 3, Giuseppe Bifulco 3, Nicola Longo 2, Annamaria Colao 1, Paola Ungaro 6, * and Paolo Emidio Macchia 1, * Received: 20 May 2025 Revised: 6 July 2025 Accepted: 24 July 2025 Published: 30 July 2025 Citation: Macera, M.; Morra, S.; Ascione, M.; Terracciano, D.; Ianniello, M.; Savarese, G.; Alviggi, C.; Bifulco, G.; Longo, N.; Colao, A.; et al. Synchronous Ovarian Sertoli–Leydig Cell and Clear Cell Papillary Renal Cell Tumors: A Rare Case Without Mutations in Cancer-Associated Genes. Curr. Oncol. 2025, 32, 429 . [https://doi.org/10.3390/](https://doi.org/10.3390/)[ ](https://doi.org/10.3390/)curroncol32080429 Copyright: © 2025 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ([https://creativecommons.org/](https://creativecommons.org/)[ ](https://creativecommons.org/)[licenses/by/4.0/](licenses/by/4.0/)) . 1 Dipartimento di Medicina Clinica e Chirurgia, Scuola di Medicina e Chirurgia, Università degli Studi di Napoli Federico II, 80131 Napoli, Italy; [manuelamaceramd@gmail.com](manuelamaceramd@gmail.com) (M.M.); [colao@unina.it](colao@unina.it) (A.C.) 2 Dipartimento di Neuroscienze e Scienze Riproduttive ed Odontostomatologiche, Scuola di Medicina e Chirurgia, Università degli Studi di Napoli Federico II, 80131 Napoli, Italy; [simonemorra@outlook.com](simonemorra@outlook.com) (S.M.); [nicola.longo@unina.it](nicola.longo@unina.it) (N.L.) 3 Dipartimento di Sanità Pubblica, Scuola di Medicina e Chirurgia, Università degli Studi di Napoli Federico II, 80131 Napoli, Italy; [marioascione1995@gmail.com](marioascione1995@gmail.com) (M.A.); [carlo.alviggi@unina.it](carlo.alviggi@unina.it) (C.A.); [giuseppe.bifulco@unina.it](giuseppe.bifulco@unina.it) (G.B.) 4 Dipartimento di Scienze Mediche Traslazionali, Scuola di Medicina e Chirurgia, Università degli Studi di Napoli Federico II, 80131 Napoli, Italy; [daniela.terracciano@unina.it](daniela.terracciano@unina.it) 5 AMES, Centro Polidiagnostico Strumentale SRL, Casalnuovo di Napoli, 80013 Napoli, Italy; [monica.ianniello@centroames.it](monica.ianniello@centroames.it) (M.I.); [giovanni.savarese@centroames.it](giovanni.savarese@centroames.it) (G.S.) 6 Istituto degli Endotipi in Oncologia, Metabolismo e Immunologia “G. Salvatore” del CNR (IEOMI-CNR), 80131 Napoli, Italy * [Correspondence: pungaro@ieos.cnr.it](Correspondence: pungaro@ieos.cnr.it) (P.U.); [pmacchia@unina.it](pmacchia@unina.it) (P.E.M.) Simple Summary Sertoli–Leydig cell tumors of the ovaries (SLCTs) are rare androgen-producing neoplasms. Clear cell papillary renal cell carcinoma (CCP-RCC) is another rare tumor type that occurs in the kidney. We describe a unique case of a woman who was diagnosed with both tumors simultaneously. Both tumors were successfully removed by surgery. Despite extensive genetic testing, including DICER1 mutation screening and analysis of more than 280 cancer-related genes, no mutations were detected, suggesting that these tumors may have arisen by chance or unknown mechanisms. This case underlines the importance of a multidisciplinary approach and genetic screening, even if no mutations were detected. It also raises new questions about how such rare tumors may be linked, highlighting the need for further research and long-term surveillance. Abstract (1) Background: Sertoli–Leydig cell tumors (SLCTs) are rare ovarian neoplasms that account for less than 0.5% of all ovarian tumors. They usually affect young women and often present with androgenic symptoms. We report a unique case of a 40-year-old woman diagnosed with both SLCT and clear cell papillary renal

FAQs

What tumors were diagnosed in the patient in this case report?

The patient was diagnosed simultaneously with an ovarian Sertoli–Leydig cell tumor and clear cell papillary renal cell carcinoma (CCP-RCC).

How were the tumors evaluated and treated?

Both tumors were treated surgically. The diagnostic workup included hormonal testing, imaging, and extensive genetic testing covering DICER1 and more than 280 cancer-related genes.

What did the genetic testing show regarding cancer-associated mutations?

No pathogenic variants in DICER1 were found, and no clinically relevant changes were detected in the extended NGS panel, suggesting no known hereditary predisposition.

Sep 24, 2026

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