具体未说明的甾体细胞肿瘤（SCT-NOS）是罕见的卵巢新生物，由于高雄激素症引起的男性化症状伴随，其中大约三分之一为恶性。鉴于SCT-NOS的罕见性，其分子基础尚未深入研究。在本病例系列中，我们首次对这种罕见的卵巢肿瘤的遗传基因组做出全面分析。同时提供了一个详细的临床病理学描述。在过去的20年中，我们的机构共接诊了八名患者。从可评估的石蜡包埋肿瘤标本（n=7）中提取了总核酸（RNA和DNA），并进行了TruSight Oncology 500测试和/或外显子测序。结果发现一些与缺氧相关的基因存在致病性变异，包括HIF1A、VHL、SDHB、SRC、IDH2和FOXO4。作为SCT-NOS的首次全面遗传分析，本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，应对所有病例进行长期随访，定期测量雄激素水平，因为复发可能在最初诊断后几年发生。

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.