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Abstract：
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.
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.
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).
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.
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.
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).
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.
摘要：
目的：Sertoli-Leydig细胞肿瘤（SLCT）是罕见的性索间质肿瘤，代表<0.5％的所有卵巢肿瘤。我们试图描述预后因素，卵巢SLCT患者的治疗和结局。
方法：SLCT患者被纳入国际胸膜肺母细胞瘤/DICER1注册和/或国际卵巢和睾丸间质瘤注册。医疗记录被系统地提取，和病理学在可用时进行集中审查。
结果：总计，191名卵巢SLCT参与者，大多数（92%，175/191）表现为FIGOI期疾病。156例患者可获得种系DICER1结果；其中58％具有致病性或可能的致病性种系变异。体细胞（肿瘤）DICER1测试显示，在97％（88/91）的中分化和低分化肿瘤中，RNaseIIIb热点变体。40%(77/191)的病例采用辅助化疗，其中，几乎所有患者都接受了基于铂类药物的治疗方案(95%，73/77)，和30％（23/77）接受了包括烷化剂的方案。IA期肿瘤患者的三年无复发生存率为93.6％（95％CI：88.2-99.3％），而所有IC期为67.1％（95％CI：55.2-81.6％），而II-IV期（p<.001）肿瘤为60.6％（95％CI：40.3-91.0％）。在FIGOI期肿瘤患者中，仅接受手术治疗的间充质异源成分患者的复发风险较高(HR:74.18,95%CI:17.99-305.85).
结论：大多数SLCT患者表现良好，尽管特定的危险因素如间充质异源元件与不良预后相关。我们还强调了DICER1监测在早期发现SLCT中的作用，促进IA期切除。
方法：SLCT患者被纳入国际胸膜肺母细胞瘤/DICER1注册和/或国际卵巢和睾丸间质瘤注册。医疗记录被系统地提取，和病理学在可用时进行集中审查。
结果：总计，191名卵巢SLCT参与者，大多数（92%，175/191）表现为FIGOI期疾病。156例患者可获得种系DICER1结果；其中58％具有致病性或可能的致病性种系变异。体细胞（肿瘤）DICER1测试显示，在97％（88/91）的中分化和低分化肿瘤中，RNaseIIIb热点变体。40%(77/191)的病例采用辅助化疗，其中，几乎所有患者都接受了基于铂类药物的治疗方案(95%，73/77)，和30％（23/77）接受了包括烷化剂的方案。IA期肿瘤患者的三年无复发生存率为93.6％（95％CI：88.2-99.3％），而所有IC期为67.1％（95％CI：55.2-81.6％），而II-IV期（p<.001）肿瘤为60.6％（95％CI：40.3-91.0％）。在FIGOI期肿瘤患者中，仅接受手术治疗的间充质异源成分患者的复发风险较高(HR:74.18,95%CI:17.99-305.85).
结论：大多数SLCT患者表现良好，尽管特定的危险因素如间充质异源元件与不良预后相关。我们还强调了DICER1监测在早期发现SLCT中的作用，促进IA期切除。
