肾透明细胞肉瘤
Clear cell sarcoma of kidney
定义
肾脏透明细胞肉瘤是一种罕见的原发性、遗传性肾脏肿瘤，其特征通常是单侧、单中心、形态多样的肿瘤，来源于肾髓质，有血管侵犯倾向。临床上表现为可触及的腹部肿块、腹部或侧腹疼痛、血尿、贫血和（或）乏力。诊断时常见转移至淋巴结、骨骼、肺、腹膜后、脑和肝脏，因此可能伴有骨痛、咳嗽或神经系统损害。也有转移到不寻常部位，如头皮、颈部、鼻咽、腋窝、眼眶和硬膜外腔的情况出现。
别名
CCSK
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 青少年期、成年期、儿童期、婴儿期
相关基因 6
| 基因 | 名称 | 关联类型 |
|---|---|---|
| BCOR | BCL6 corepressor | Disease-causing somatic mutation(s) in |
| TERT | telomerase reverse transcriptase | Part of a fusion gene in |
| YWHAE | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Part of a fusion gene in |
| NUTM2B | NUT family member 2B | Part of a fusion gene in |
| NUTM2E | NUT family member 2E | Part of a fusion gene in |
| IRX2 | iroquois homeobox 2 | Part of a fusion gene in |
近两年的全球研究 18L2
2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 18 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-04病例报告开放获取Ectopic Cushing Syndrome Secondary to Corticotropin-secreting Wilms Tumor: A Rare Paraneoplastic Phenomenon
- 2026-04开放获取Non-Wilms Renal Tumours in Children: The Republic of Ireland Experience
- 2026-04开放获取Improving the diagnosis of renal tumours of young people through integrated molecular analysis
- 2026-03开放获取Immunogenomic classification reveals prognostic immune signatures in pediatric solid and hematological tumors
- 2026-02[YWHAE-rearranged clear cell sarcoma of kidney: a clinicopathological analysis of seven cases]
- 2025-11SOX11 is frequently expressed in ETV6::NTRK3-rearranged infantile fibrosarcoma and congenital mesoblastic nephroma
- 2025-08开放获取Prenatal diagnosis and postnatal management of perinatal thoracoabdominopelvic tumors: multicenter experience
- 2025-08开放获取Establishing a pediatric solid tumor PDX biobank for precision oncology research
- 2025-06开放获取Gene profiling and clinicopathological features for prognostic modeling of recurrence in non-metastatic clear-cell renal cell carcinoma
- 2025-04综述开放获取Data set for reporting paediatric renal tumours: recommendations from the international collaboration on cancer reporting (ICCR)
- 2025-03综述开放获取Gene Editing: An Effective Tool for the Future Treatment of Kidney Disease
- 2025-03综述开放获取Wilms' Tumor: A Review of Clinical Characteristics, Treatment Advances, and Research Opportunities
- 2025-02开放获取Validation of A Nationwide Digital Pediatric Pathology Consultation Network
- 2025-01综述Paediatric renal tumours: an update on challenges and recent developments
- 2024-11综述Emerging, Uncommon, and Aggressive Pediatric Kidney Tumors: An Update and Diagnostic Pitfalls
- 2024-11Classification and epidemiologic analysis of 86 diseases in <i>China's Second List of Rare Diseases</i>
- 2024-10开放获取Spectrum of Renal Tumors Other Than Renal Cell Carcinoma with Emphasis on Cytomorphological, Immunohistochemical, and Cytogenetic Study
- 2024-09综述Mesenchymal Neoplasms of the Kidney and Perinephric Soft Tissue
在中国开展的临床试验 1L2
按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。
登记为可入组 1
- 招募中NCT06683846Ivonescimab in the Treatment of Multiple Advanced Tumors中国研究中心 1 个：Shanghai
中国境外的在招试验 4L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
Uganda1巴西1澳大利亚1英国1美国1
CT.gov 报告命中 4 项，此处取回并展示最近的 3 项。
- 尚未开始招募NCT07576725Low Dose, Reduced Frequency Nivolumab for the Treatment of Unresectable or Metastatic Cancer, AFFORD IO TrialUganda
- 招募中NCT06638931Agnostic Therapy in Rare Solid Tumors巴西
- 招募中NCT06242470A Study of MGC026 in Participants With Advanced Solid Tumors澳大利亚、英国、美国
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）