肾脏未分化肉瘤（DICER1 肉瘤）：来自国际胸膜肺胚细胞瘤/DICER1 登记处的报告。
Anaplastic sarcoma of the kidney (DICER1-sarcoma of the kidney): A report from the International Pleuropulmonary Blastoma/DICER1 Registry.
机构信息
Department of Pediatrics, Division of Hematology/Oncology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Department of Pediatrics and Adolescent Medicine, Division of Hematology-Oncology, Mayo Clinic, Rochester, Minnesota, USA.
出版信息
Pediatr Blood Cancer. 2024 Aug;71(8):e31090. doi: 10.1002/pbc.31090. Epub 2024 May 28.
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.
CONCLUSION
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.
背景
肾嫌色细胞肉瘤（ASK）是一种 DICER1 相关的肿瘤，最初是通过评估疑似间变性 Wilms 肿瘤的罕见病例而被确定为一种独特的肿瘤类型。随后的病例报告发现了双等位基因 DICER1 变异的存在，以及从良性 DICER1 相关肿瘤囊性肾瘤进展而来。尽管 ASK 作为一种明确的实体瘤越来越受到认可，但最佳治疗方法仍不清楚。
方法
在国际胸膜肺胚细胞瘤/DICER1 登记处登记了已知或疑似 DICER1 相关肿瘤（包括 ASK）的个体。此外，对已发表的 ASK 病例进行了全面回顾，并对数据进行了汇总分析，目的是确定与基因检测、治疗和监测相关的预后因素和临床特征。
结果
在该登记处发现了 10 例 ASK 病例，以及 37 例先前发表的病例。根据儿童肿瘤学组的指南，有 40 名患者的分期数据可用：13 名患者为 I 期，12 名患者为 II 期，10 名患者为 III 期，5 名患者为 IV 期。37 名患者有生存数据。大多数（46 例中的 38 例）患者接受了初始化疗，14 例患者接受了初始放疗。I-II 期 ASK 的 2 年无事件生存率（EFS）为 81.8%（95%置信区间[CI]：67.2%-99.6%），而 III-IV 期 EFS 为 46.6%（95% CI：24.7%-87.8%）（p=0.07）。I-II 期 ASK 的 2 年总生存率（OS）为 88.9%（95% CI：75.5%-100.0%），而 III-IV 期 OS 为 70.0%（95% CI：46.7%-100.0%）（p=0.20）。化疗与 EFS 和 OS 的改善相关，风险比分别为 0.09（95% CI：0.02-0.31）和 0.08（95% CI：0.02-0.42）。
结论
ASK 是一种罕见的 DICER1 相关肾肿瘤。在本报告中，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。需要进行正在进行的数据收集和基因组分析，以优化这些罕见肿瘤患儿和成人的治疗结果。
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