Department of Pediatric Surgery, Fujian Children's Hospital (Fujian Branch of Shanghai Children's Medical Center), College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, 350000, Fujian, China.
Eur J Pediatr. 2024 Feb;183(2):557-567. doi: 10.1007/s00431-023-05345-x. Epub 2023 Nov 29.
This paper aims to explore the epidemiology, clinical characteristics, and prognosis of extracranial malignant rhabdoid tumors (eMRTs) in children. A systematic review and meta-analysis of studies published in PUBMED, MEDLINE, Web of Science, Embase, Cochrane, and China National Knowledge Infrastructure (CNKI) was conducted. The search was limited to studies published between Jan 1, 1990 to Dec 31, 2022, with the last search done on Jan 31, 2023. We identified 496 papers through the literature search, and 12 retrospective cohort studies with 398 patients were included. The pooled age at diagnosis for malignant rhabdoid tumor of the kidney (MRTK) was 10.009 months (95%CI (7.542-12.476)), while extracranial malignant rhabdoid tumor (EERT) was 25.917 months (95%CI (17.304-34.530)). Among the 398 patients with eMRTs, chemotherapy treatment rate (86.8% (95%CI (74.4-96.0%))) was more frequently than radiotherapy treatment (45.4% (95%CI (38.1-52.6%))). The rate of metastasis in all patients was 41.4% (95%CI (33.9-48.9%)), in which the lung metastasis was occupied 70.4% (95%CI (58.0-81.6%)). SMARCB1/INI1 mutation was up to 93.2% (95%CI (81.3-99.8%)). The rate of total surgical resection was 50.4% (95%CI (35.2-65.6%)), while pooled proportion of death in all patients was 68.7% (95%CI (56.9-79.5%)). Conclusion: EMRTs are highly malignant tumors associated with high mortality rates. The loss of SMARCB1/INI1 gene and the protein expression is observed in the vast majority of eMRTs patients. Patients that suffered MRTK are younger than patients with extrarenal EERT and are more prone to lung metastasis, but there is no significant difference in overall survival, possibly due to the higher rate of R0 resection of primary tumors in MRTK. Trial registration: The study was registered on PROSPERO with registration number CRD42023400985. What is Known: • Malignant rhabdoid tumor (MRT) is a rare and highly malignant tumor that may originate from embryonic stem cells. The incidence of MRT is exceptionally low, estimated at 0.00006%. • Malignant rhabdoid tumor of the kidney (MRTK) and extrarenal extra-cranial malignant rhabdoid tumor (EERT) tend to manifest between 11 to 18 months of age, with a 5-year survival rate of approximately 17%-36%. What is New: • There is no comprehensive meta-analysis or large-scale case series that reported to systematically introduce the eMRTs clinic outcome and prog-nosis based on largely pooled data. • This study performed a meta-analysis through an extensive literature search and clinical data analysis in order to mainly explore the clinical characteris-tics and prognosis of eMRTs, improving the understanding of eMRTs in children..
这篇论文旨在探讨儿童颅外恶性横纹肌样肿瘤（eMRT）的流行病学、临床特征和预后。我们对发表在 PUBMED、MEDLINE、Web of Science、Embase、Cochrane 和中国国家知识基础设施（CNKI）上的研究进行了系统的综述和荟萃分析。搜索范围限于 1990 年 1 月 1 日至 2022 年 12 月 31 日期间发表的研究，最后一次搜索于 2023 年 1 月 31 日进行。通过文献搜索，我们共找到了 496 篇论文，其中有 12 项回顾性队列研究纳入了 398 例患者。肾恶性横纹肌样肿瘤（MRTK）的汇总诊断年龄为 10.009 个月（95%CI（7.542-12.476）），而颅外恶性横纹肌样肿瘤（EERT）为 25.917 个月（95%CI（17.304-34.530））。在 398 例 eMRT 患者中，化疗治疗率（86.8%（95%CI（74.4-96.0%）））高于放疗治疗率（45.4%（95%CI（38.1-52.6%）））。所有患者的转移率为 41.4%（95%CI（33.9-48.9%）），其中肺转移占 70.4%（95%CI（58.0-81.6%））。SMARCB1/INI1 突变率高达 93.2%（95%CI（81.3-99.8%））。总的手术切除率为 50.4%（95%CI（35.2-65.6%）），而所有患者的死亡率汇总比例为 68.7%（95%CI（56.9-79.5%））。结论：eMRT 是一种高度恶性肿瘤，死亡率高。绝大多数 eMRT 患者存在 SMARCB1/INI1 基因缺失和蛋白表达缺失。MRTK 患者发病年龄较 EERT 患者年轻，更易发生肺转移，但总生存率无显著差异，可能是由于 MRTK 患者原发性肿瘤的 R0 切除率较高。试验注册：本研究在 PROSPERO 上进行了注册，注册号为 CRD42023400985。已知情况：•恶性横纹肌样肿瘤（MRT）是一种罕见且高度恶性的肿瘤，可能来源于胚胎干细胞。MRT 的发病率极低，估计为 0.00006%。•肾恶性横纹肌样肿瘤（MRTK）和颅外恶性横纹肌样肿瘤（EERT）倾向于在 11 至 18 个月之间发病，5 年生存率约为 17%-36%。新情况：•目前尚无综合的荟萃分析或大型病例系列报告，基于大量汇总数据系统地介绍 eMRT 的临床结果和预后。•本研究通过广泛的文献搜索和临床数据分析进行了荟萃分析，主要探讨了 eMRT 的临床特征和预后，提高了对儿童 eMRT 的认识。
