Abstract：
BACKGROUND: Anaplastic sarcoma of the kidney (ASK) is a DICER1-related neoplasm first identified as a distinctive tumor type through the evaluation of unusual cases of putative anaplastic Wilms tumors. Subsequent case reports identified the presence of biallelic DICER1 variants as well as progression from cystic nephroma, a benign DICER1-related neoplasm. Despite increasing recognition of ASK as a distinct entity, the optimal treatment remains unclear.
METHODS: Individuals with known or suspected DICER1-related tumors including ASK were enrolled in the International Pleuropulmonary Blastoma/DICER1 Registry. Additionally, a comprehensive review of reported cases of ASK was undertaken, and data were aggregated for analysis with the aim to identify prognostic factors and clinical characteristics to guide decisions regarding genetic testing, treatment, and surveillance.
RESULTS: Ten cases of ASK were identified in the Registry along with 37 previously published cases. Staging data, per Children\'s Oncology Group guidelines, was available for 40 patients: 13 were stage I, 12 were stage II, 10 were stage III, and five were stage IV. Outcome data were available for 37 patients. Most (38 of 46) patients received upfront chemotherapy and 14 patients received upfront radiation. Two-year event-free survival (EFS) for stage I-II ASK was 81.8% (95% confidence interval [CI]: 67.2%-99.6%), compared with 46.6% EFS (95% CI: 24.7%-87.8%) for stage III-IV (p = .07). Two-year overall survival (OS) for stage I-II ASK was 88.9% (95% CI: 75.5%-100.0%), compared with 70.0% (95% CI: 46.7%-100.0%) for stage III-IV (p = .20). Chemotherapy was associated with improved EFS and OS with hazard ratios of 0.09 (95% CI: 0.02-0.31) and 0.08 (95% CI: 0.02-0.42), respectively.
CONCLUSIONS: ASK is a rare DICER1-related renal neoplasm. In the current report, we identify clinical and treatment-related factors associated with outcome including the importance of chemotherapy in treating ASK. Ongoing data collection and genomic analysis are indicated to optimize outcomes for children and adults with these rare tumors.
METHODS: Individuals with known or suspected DICER1-related tumors including ASK were enrolled in the International Pleuropulmonary Blastoma/DICER1 Registry. Additionally, a comprehensive review of reported cases of ASK was undertaken, and data were aggregated for analysis with the aim to identify prognostic factors and clinical characteristics to guide decisions regarding genetic testing, treatment, and surveillance.
RESULTS: Ten cases of ASK were identified in the Registry along with 37 previously published cases. Staging data, per Children\'s Oncology Group guidelines, was available for 40 patients: 13 were stage I, 12 were stage II, 10 were stage III, and five were stage IV. Outcome data were available for 37 patients. Most (38 of 46) patients received upfront chemotherapy and 14 patients received upfront radiation. Two-year event-free survival (EFS) for stage I-II ASK was 81.8% (95% confidence interval [CI]: 67.2%-99.6%), compared with 46.6% EFS (95% CI: 24.7%-87.8%) for stage III-IV (p = .07). Two-year overall survival (OS) for stage I-II ASK was 88.9% (95% CI: 75.5%-100.0%), compared with 70.0% (95% CI: 46.7%-100.0%) for stage III-IV (p = .20). Chemotherapy was associated with improved EFS and OS with hazard ratios of 0.09 (95% CI: 0.02-0.31) and 0.08 (95% CI: 0.02-0.42), respectively.
CONCLUSIONS: ASK is a rare DICER1-related renal neoplasm. In the current report, we identify clinical and treatment-related factors associated with outcome including the importance of chemotherapy in treating ASK. Ongoing data collection and genomic analysis are indicated to optimize outcomes for children and adults with these rare tumors.
摘要：
背景：肾脏间变性肉瘤（ASK）是一种DICER1相关肿瘤，首次通过评估推定的间变性Wilms肿瘤的异常病例被确定为一种独特的肿瘤类型。随后的病例报告确定了双等位基因DICER1变异体的存在以及囊性肾瘤的进展，良性DICER1相关肿瘤。尽管人们越来越认识到ASK是一个独特的实体，最佳治疗仍不清楚.
方法：将已知或疑似DICER1相关肿瘤包括ASK的患者纳入国际胸膜肺母细胞瘤/DICER1注册中心。此外,对报告的ASK病例进行了全面审查，和数据汇总进行分析，目的是确定预后因素和临床特征，以指导有关基因检测的决策。治疗,和监视。
结果：在注册表中发现了10例ASK病例以及37例以前发表的病例。暂存数据，根据儿童肿瘤学组指南，可供40名患者使用：13名是I期，12是第二阶段，10个是第三阶段，五个是第四阶段。结果数据可用于37例患者。大多数（46名患者中的38名）患者接受了前期化疗，14名患者接受了前期放疗。I-II期ASK的两年无事件生存率（EFS）为81.8％（95％置信区间[CI]：67.2％-99.6％），与III-IV期的46.6%EFS(95%CI:24.7%-87.8%)相比(p=.07)。I-II期ASK的两年总生存率（OS）为88.9％（95％CI：75.5％-100.0％），与III-IV期的70.0%（95%CI：46.7%-100.0%）相比（p=0.20）。化疗与改善的EFS和OS相关，风险比为0.09（95％CI：0.02-0.31）和0.08（95％CI：0.02-0.42），分别。
结论：ASK是一种罕见的DICER1相关肾肿瘤。在当前的报告中,我们确定了与预后相关的临床和治疗相关因素,包括化疗在治疗ASK中的重要性.正在进行的数据收集和基因组分析被表明可以优化患有这些罕见肿瘤的儿童和成人的结果。
方法：将已知或疑似DICER1相关肿瘤包括ASK的患者纳入国际胸膜肺母细胞瘤/DICER1注册中心。此外,对报告的ASK病例进行了全面审查，和数据汇总进行分析，目的是确定预后因素和临床特征，以指导有关基因检测的决策。治疗,和监视。
结果：在注册表中发现了10例ASK病例以及37例以前发表的病例。暂存数据，根据儿童肿瘤学组指南，可供40名患者使用：13名是I期，12是第二阶段，10个是第三阶段，五个是第四阶段。结果数据可用于37例患者。大多数（46名患者中的38名）患者接受了前期化疗，14名患者接受了前期放疗。I-II期ASK的两年无事件生存率（EFS）为81.8％（95％置信区间[CI]：67.2％-99.6％），与III-IV期的46.6%EFS(95%CI:24.7%-87.8%)相比(p=.07)。I-II期ASK的两年总生存率（OS）为88.9％（95％CI：75.5％-100.0％），与III-IV期的70.0%（95%CI：46.7%-100.0%）相比（p=0.20）。化疗与改善的EFS和OS相关，风险比为0.09（95％CI：0.02-0.31）和0.08（95％CI：0.02-0.42），分别。
结论：ASK是一种罕见的DICER1相关肾肿瘤。在当前的报告中,我们确定了与预后相关的临床和治疗相关因素,包括化疗在治疗ASK中的重要性.正在进行的数据收集和基因组分析被表明可以优化患有这些罕见肿瘤的儿童和成人的结果。
