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透明细胞肾细胞癌伴 IV 期腔静脉心房肿瘤栓子延伸和手术后治疗的快速转移性复发,回顾当前治疗策略。

Clear cell renal cell carcinoma with stage IV cavoatrial tumour thrombus extension and rapid metastatic reoccurrence postsurgical treatment with review of current treatment strategies.

机构信息

Internal Medicine, UNC Health Southeastern, Lumberton, North Carolina, USA

Internal Medicine, Campbell University Jerry M Wallace School of Osteopathic Medicine, Buies Creek, North Carolina, USA.

出版信息

BMJ Case Rep. 2022 Mar 16;15(3):e248156. doi: 10.1136/bcr-2021-248156.

DOI:10.1136/bcr-2021-248156
PMID:35296494
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8928259/
Abstract

Renal cell carcinoma (RCC) is the most aggressive urological malignancy, with a high recurrence rate. Despite the rapid evolution of the treatment of RCC from non-specific cytotoxic therapies to specific novel combination therapies, the general prognosis for advanced RCC remains poor because patients' responses to these therapies vary. Herein, we present the case of a male in early forties who was diagnosed with a right lower pole renal mass with a level IV tumour thrombus, which was later confirmed as stage IIIc clear cell RCC. About 19 months after radical nephrectomy (curative surgery), the patient was diagnosed with a biopsy-proven metastatic disease, which was not responsive to first-line treatment owing to insufficient data on the best treatment regimen. Herein, we also present a literature review on the pathological impact of genomic alterations in tumour suppressors and highlight emerging paradigm shifts in the treatment of RCC.

摘要

肾细胞癌(RCC)是最具侵袭性的泌尿系统恶性肿瘤,复发率较高。尽管 RCC 的治疗已经从非特异性细胞毒性治疗快速发展为特异性新型联合治疗,但晚期 RCC 的总体预后仍然较差,因为患者对这些治疗的反应存在差异。在此,我们报告了一例四十出头的男性患者,他被诊断为右肾下极有一个 IV 级肿瘤栓子的肿块,后来被证实为 IIIc 期透明细胞 RCC。根治性肾切除术后约 19 个月,患者被诊断为经活检证实的转移性疾病,由于最佳治疗方案的数据不足,一线治疗无效。在此,我们还对肿瘤抑制基因中基因组改变的病理影响进行了文献复习,并强调了 RCC 治疗中出现的新兴范式转变。

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本文引用的文献

1
Clinical Review on the Management of Metastatic Renal Cell Carcinoma.转移性肾细胞癌管理的临床综述
JCO Oncol Pract. 2022 Mar;18(3):187-196. doi: 10.1200/OP.21.00419. Epub 2021 Sep 16.
2
The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.PI3K/mTOR信号通路在同时患有黑色素瘤和肾细胞癌的患者中受到罕见种系变异的影响。
Cancers (Basel). 2021 May 7;13(9):2243. doi: 10.3390/cancers13092243.
3
Comparative Efficacy of First-Line Immune-Based Combination Therapies in Metastatic Renal Cell Carcinoma: A Systematic Review and Network Meta-Analysis.一线免疫联合疗法治疗转移性肾细胞癌的疗效比较:一项系统评价和网状Meta分析
Cancers (Basel). 2020 Jun 24;12(6):1673. doi: 10.3390/cancers12061673.
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Current Approaches to the Treatment of Advanced or Metastatic Renal Cell Carcinoma.晚期或转移性肾细胞癌的当前治疗方法
Am Soc Clin Oncol Educ Book. 2020 Mar;40:1-10. doi: 10.1200/EDBK_279881.
5
Tyrosine kinase inhibitors and immunotherapy combinations in renal cell carcinoma.酪氨酸激酶抑制剂与免疫疗法联合用于肾细胞癌的治疗
Ther Adv Med Oncol. 2020 Mar 18;12:1758835920907504. doi: 10.1177/1758835920907504. eCollection 2020.
6
Clinical Validation of PBRM1 Alterations as a Marker of Immune Checkpoint Inhibitor Response in Renal Cell Carcinoma.PBRM1改变作为肾细胞癌免疫检查点抑制剂反应标志物的临床验证
JAMA Oncol. 2019 Nov 1;5(11):1631-1633. doi: 10.1001/jamaoncol.2019.3158.
7
The Identification of Immunological Biomarkers in Kidney Cancers.肾癌中免疫生物标志物的鉴定
Front Oncol. 2018 Nov 2;8:456. doi: 10.3389/fonc.2018.00456. eCollection 2018.
8
Genomically annotated risk model for advanced renal-cell carcinoma: a retrospective cohort study.基因组注释风险模型在晚期肾细胞癌中的应用:一项回顾性队列研究。
Lancet Oncol. 2018 Dec;19(12):1688-1698. doi: 10.1016/S1470-2045(18)30648-X. Epub 2018 Nov 8.
9
Chromosome 3p Loss-Orchestrated VHL, HIF, and Epigenetic Deregulation in Clear Cell Renal Cell Carcinoma.3号染色体短臂缺失在透明细胞肾细胞癌中所引发的VHL、HIF及表观遗传失调
J Clin Oncol. 2018 Oct 29;36(36):JCO2018792549. doi: 10.1200/JCO.2018.79.2549.
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Genomic Alterations and Outcomes with VEGF-Targeted Therapy in Patients with Clear Cell Renal Cell Carcinoma.透明细胞肾细胞癌患者接受VEGF靶向治疗后的基因组改变与预后
Kidney Cancer. 2017 Jul 26;1(1):49-56. doi: 10.3233/KCA-160003.