Steroid cell tumors, not otherwise specified (SCT-NOS), are uncommon ovarian neoplasms accompanied by virilization symptoms due to hyperandrogenism, which are malignant in approximately one-third of the cases. Given the rarity of SCT-NOS, their molecular underpinnings have not yet been studied in depth. In this case series, we performed the first comprehensive analysis of the genetic landscape of this rare ovarian tumor. A detailed clinicopathological description of an index case is also provided. Over a 20-year period, a total of eight patients were seen at our institution. Total nucleic acids (RNA and DNA) were extracted from evaluable formalin-fixed, paraffin-embedded tumor specimens (n = 7) and subjected to TruSight Oncology 500 testing and/or exome sequencing. The results identified pathogenic variants in several hypoxia-related genes – including HIF1A, VHL, SDHB, SRC, IDH2, and FOXO4. As the first comprehensive genetic analysis of SCT-NOS, this study shows that dysregulation in the hypoxia signaling pathway is a key molecular feature of this rare tumor. Clinically, long-term follow-up with periodic measurements of androgen levels should be pursued in all cases since recurrences may occur several years after the initial diagnosis.

类固醇细胞瘤（未另行指定）（SCT-NOS）是一种罕见的卵巢肿瘤，伴有雄激素过多症导致的男性化症状，其中约三分之一的病例是恶性的。鉴于 SCT-NOS 的稀有性，其分子基础尚未得到深入研究。在这个病例系列中，我们对这种罕见卵巢肿瘤的遗传图谱进行了首次全面分析。还提供了指示病例的详细临床病理学描述。20 年来，我们机构总共接诊了 8 名患者。从可评估的福尔马林固定、石蜡包埋的肿瘤样本 ( n = 7)中提取总核酸（RNA 和 DNA） ，并进行 TruSight Oncology 500 测试和/或外显子组测序。结果确定了几个缺氧相关基因的致病变异，包括HIF1A、VHL、SDHB、SRC、IDH2和FOXO4。作为对 SCT-NOS 的首次全面遗传分析，这项研究表明缺氧信号通路的失调是这种罕见肿瘤的关键分子特征。临床上，所有病例都应进行长期随访并定期测量雄激素水平，因为初次诊断后几年可能会出现复发。