Macera Manuela, Morra Simone, Ascione Mario, Terracciano Daniela, Ianniello Monica, Savarese Giovanni, Alviggi Carlo, Bifulco Giuseppe, Longo Nicola, Colao Annamaria, Ungaro Paola, Macchia Paolo Emidio
Dipartimento di Medicina Clinica e Chirurgia, Scuola di Medicina e Chirurgia, Università degli Studi di Napoli Federico II, 80131 Napoli, Italy.
Dipartimento di Neuroscienze e Scienze Riproduttive ed Odontostomatologiche, Scuola di Medicina e Chirurgia, Università degli Studi di Napoli Federico II, 80131 Napoli, Italy.
Curr Oncol. 2025 Jul 30;32(8):429. doi: 10.3390/curroncol32080429.
(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 cell carcinoma (CCP-RCC), a rare tumor association with unclear pathogenesis. (2) Methods: Both tumors were treated surgically. The diagnostic workup included hormonal testing, imaging studies, and extensive genetic testing, including DICER1 mutation analysis and multiplex ligation-dependent probe amplification (MLPA), as well as the examination of a next-generation sequencing (NGS) panel covering ~280 cancer-related genes. (3) Results: Histopathologic examination confirmed a well-differentiated SLCT and CCP-RCC. No pathogenic variants in DICER1 were identified by WES or MLPA. No clinically relevant changes were found in the extended NGS panel either, so a known hereditary predisposition could be ruled out. The synchronous occurrence of both tumors without genomic alterations could indicate a sporadic event or as yet unidentified mechanisms. (4) Conclusions: This case highlights the importance of a multidisciplinary approach in the management of rare tumor compounds. The exclusion of DICER1 mutations and the absence of genetic findings adds new evidence to the limited literature and underscores the importance of long-term surveillance and further research into potential shared oncogenic pathways.
(1) 背景：支持-间质细胞瘤（SLCTs）是罕见的卵巢肿瘤，占所有卵巢肿瘤的比例不到0.5%。它们通常影响年轻女性，常表现出雄激素症状。我们报告了一例独特病例，一名40岁女性被诊断同时患有SLCT和透明细胞乳头状肾细胞癌（CCP-RCC），这是一种发病机制不明的罕见肿瘤关联情况。(2) 方法：对两种肿瘤均进行了手术治疗。诊断性检查包括激素检测、影像学检查以及广泛的基因检测，包括DICER1突变分析和多重连接依赖探针扩增（MLPA），以及对覆盖约280个癌症相关基因的二代测序（NGS） panel的检测。(3) 结果：组织病理学检查证实为高分化的SLCT和CCP-RCC。通过全外显子测序（WES）或MLPA未发现DICER1的致病变异。在扩展的NGS panel中也未发现临床相关变化，因此可以排除已知的遗传易感性。两种肿瘤同时发生且无基因组改变可能表明是散发性事件或尚未明确的机制。(4) 结论：本病例突出了多学科方法在罕见肿瘤组合管理中的重要性。排除DICER1突变以及无基因发现为有限的文献增添了新证据，并强调了长期监测以及对潜在共同致癌途径进行进一步研究的重要性。
