renal cell cancer

肾细胞癌
  • 文章类型: Journal Article
    背景肾癌转移到口腔区域非常罕见。许多研究人员已经发表了分析口腔转移性肿瘤病例的研究。迄今为止,很少进行研究来分析肾癌转移作为口腔软组织的唯一主要来源。这项研究的目的是检查1911年至2022年作为唯一主要来源的肾细胞癌口腔软组织转移的已发表病例。材料和方法在PubMed/Medline中对已发表文献进行了电子搜索,没有出版年份限制,Scopus,谷歌学者,WebofScience,科学直接,Embase,和研究门数据库,使用网格关键字,如(“肾癌,\"或\"肾癌\"或\"肾细胞癌\"或\"肾细胞癌\"),和(“转移”或“转移”),和(“口腔软组织”或“舌头”或“腭”或“扁桃体”或“颊粘膜”或“唾液腺”)。我们还手动搜索了相关期刊和参考文献列表。结果我们的研究共揭示了226篇相关文章,共250例患者。腮腺和舌是最常见的转移部位。23%的患者死亡,生存时间为10天至4年。结论肾细胞癌口腔软组织转移预后不良。需要发布更多病例,以提高对这些病变的认识。
    Background  Renal cancer metastasis to oral region is very rare. Studies have been published analyzing the cases of metastatic tumors to the oral cavity by many researchers. Very few research studies have been conducted till date to analyze the renal cancer metastasis as the sole primary source to the oral soft tissues. The goal of this study was to examine the published cases of oral soft tissue metastasis from renal cell carcinoma as the only primary source from 1911 to 2022. Materials and Methods  An electronic search of the published literature was performed without publication year limitation in PubMed/Medline, Scopus, Google Scholar, Web of Science, Science Direct, Embase, and Research Gate databases, using mesh keywords like (\"Renal cancer,\" or \"Renal carcinoma\" or \"Renal cell cancer\" or \"Renal cell carcinoma\"), and (\"Metastasis\" or \"Metastases\"), and (\"Oral soft tissues\" or \"Tongue\" or \"Palate\" or \"Tonsil\" or \"Buccal mucosa\" or \"Salivary glands\"). We also searched related journals manually and the reference lists. Results  Our research revealed a total of 226 relevant articles with 250 patients. Parotid glands and tongue were the most common sites of metastasis. 23% patients died with a survival time of 10 days to 4 years. Conclusions  Oral soft tissue metastasis from renal cell carcinoma has a bad prognosis. More cases need to be published in order to raise awareness of these lesions.
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  • 文章类型: Case Reports
    对于免疫组织化学等“旧”诊断工具,遗传性皮肤肿瘤的诊断很困难。全外显子组测序分析作为一种“新的”诊断工具,使我们能够在过去未知的遗传性疾病的情况下做出最终诊断。遗传性平滑肌瘤和肾细胞癌是以子宫肌瘤为特征的常染色体显性遗传性癌症综合征。皮肤平滑肌瘤,和侵袭性肾细胞癌。该综合征与富马酸水合酶基因的致病性种系变异有关。在这里,我们在一名患有多发性皮肤平滑肌瘤的60岁女性中证明了富马酸水合酶基因的致病性种系变异,导致遗传性平滑肌瘤病和肾细胞癌的诊断。使用从外周血白细胞中提取的基因组DNA进行的全外显子组测序分析显示,1号染色体上的FH基因中有一个种系变异(c.290G>A,p.Gly97Asp)。她因子宫肌瘤接受了全子宫切除术,这强烈支持了诊断。计算机断层扫描和超声检查未在她的肾脏中检测到肿瘤。富马酸水合酶基因突变的遗传检查对于达到正确诊断并在早期检测肾癌很重要。
    The diagnosis of hereditary skin tumors is difficult for \"old\" diagnostic tools such as immunohistochemistry. Whole-exome sequencing analysis as a \"new\" diagnostic tool enables us to make a final diagnosis in spite of unknown hereditary diseases in the past. Hereditary leiomyomatosis and renal cell cancer are autosomal dominant hereditary cancer syndromes characterized by uterine myomas, cutaneous leiomyomas, and aggressive renal cell cancer. The syndrome is associated with pathogenic germline variants in the fumarate hydratase gene. Herein, we demonstrate a pathogenic germline variant of the fumarate hydratase gene in a 60-year-old woman with multiple cutaneous leiomyomas, leading to the diagnosis of hereditary leiomyomatosis and renal cell cancer. Whole-exome sequencing analysis using genomic DNA extracted from peripheral blood leukocytes revealed one germline variant in the FH gene on chromosome 1 (c.290G>A, p.Gly97Asp). She received total hysterectomy due to uterine myoma, which strongly supported the diagnosis. No tumor was detected in her kidney by computed tomography and ultrasound examination. Genetic examination for the mutation of the fumarate hydratase gene is important in order to reach the correct diagnosis and to detect renal cancer at its early stage.
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  • 文章类型: Journal Article
    目的:肾细胞癌(RCC)的发病率正在增加,目前有多种治疗选择。这篇综述的目的是概述患者的选择和技术方法,并介绍T1b(4.1-7cm)RCC经皮消融的最新文献。
    结果:越来越多的回顾性研究和荟萃分析评估了经皮消融治疗T1bRCC的应用。总的来说,这些研究倾向于表明,经皮消融在这一患者人群中是可行的。然而,T1b型RCC经皮消融术后的主要不良事件和局部复发率均高于较小肿瘤的消融术.因此,一个多学科,需要以患者为中心的方法。由于这方面的文献越来越多,最新的国家综合癌症网络(NCCN)指南将经皮消融作为T1bRCC非手术患者的一种选择.
    OBJECTIVE: There is increasing incidence of renal cell carcinoma (RCC) with multiple treatment options currently available. The purpose of this review is to outline patient selection and technical approaches and present the current literature for percutaneous ablation of T1b (4.1-7 cm) RCC.
    RESULTS: An increasing number of retrospective studies and meta-analyses have evaluated the use of percutaneous ablation for T1b RCC. Overall, these studies tend to show that percutaneous ablation in this patient population is feasible. However, rates of major adverse events and local recurrence after percutaneous ablation for T1b RCC are both higher than when ablation is used for smaller tumors. As such, a multi-disciplinary, patient-centered approach is required. Due to the increasing literature in this area, the most recent National Comprehensive Cancer Network (NCCN) guidelines include percutaneous ablation as an option for non-surgical patients with T1b RCC.
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  • 文章类型: Journal Article
    在我们最近的研究中,我们探讨了三维(3D)测量肿瘤体积在预测肾细胞癌(RCC)患者生活质量(QoL)改善中的功效,接受阿西替尼和抗PD-L1抗体治疗的患者。这项研究包括18例RCC患者,包括10名男性和8名女性,平均年龄56.83±9.94岁。通过利用3D切片器软件,我们分析了治疗前后的CT扫描,以评估肿瘤体积的变化.通过FKSI-DRS问卷评估患者的QoL。我们的研究结果表明,所有患者的3D模型都被成功创建,基于RECIST1.1标准的治疗应答分类与体积分析之间存在中度一致性(kappa=0.556,p=0.001).值得注意的是,9例患者报告治疗后QoL有临床意义的改善.有趣的是,与CT测量的直径变化相比,3D模型显示的肿瘤体积变化在预测QoL改善方面显示出更高的曲线下面积,尽管这种差异没有统计学意义(z=0.593,p=0.553).此外,一项多变量分析将基于3D模型的肿瘤体积变化确定为QoL改善的独立预测因子(比值比=1.073,95%CI1.002-1.149,p=0.045).总之,我们的研究表明,与传统的基于CT的直径测量相比,通过3D模型测量的肿瘤体积变化可能更有效地预测RCC患者的症状改善.这提供了一种评估治疗反应和患者健康状况的新方法,在RCC治疗领域取得了重大进展。
    In our recent study, we explored the efficacy of three-dimensional (3D) measurement of tumor volume in predicting the improvement of quality of life (QoL) in patients suffering from renal cell cancer (RCC), who were treated with axitinib and anti-PD-L1 antibodies. This study encompassed 18 RCC patients, including 10 men and 8 women, with an average age of 56.83 ± 9.94 years. By utilizing 3D Slicer software, we analyzed pre- and post-treatment CT scans to assess changes in tumor volume. Patients\' QoL was evaluated through the FKSI-DRS questionnaire. Our findings revealed that 3D models for all patients were successfully created, and there was a moderate agreement between treatment response classifications based on RECIST 1.1 criteria and volumetric analysis (kappa = 0.556, p = 0.001). Notably, nine patients reported a clinically meaningful improvement in QoL following the treatment. Interestingly, the change in tumor volume as indicated by the 3D model showed a higher area under the curve in predicting QoL improvement compared to the change in diameter measured by CT, although this difference was not statistically significant (z = 0.593, p = 0.553). Furthermore, a multivariable analysis identified the change in tumor volume based on the 3D model as an independent predictor of QoL improvement (odds ratio = 1.073, 95% CI 1.002-1.149, p = 0.045).In conclusion, our study suggests that the change in tumor volume measured by a 3D model may be a more effective predictor of symptom improvement in RCC patients than traditional CT-based diameter measurements. This offers a novel approach for assessing treatment response and patient well-being, presenting a significant advancement in the field of RCC treatment.
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  • 文章类型: Journal Article
    脑转移(BM)的诊断显着影响转移性肾细胞癌(mRCC)患者的生活质量。尽管全身治疗在mRCC中显示出疗效,主动监测(AS)仍然是临床实践中常用的方法。在这项单中心队列研究中,我们评估了转移性肾癌(mRCC)不同初始治疗策略对BM发展的影响。2011年至2022年期间诊断为mRCC的所有连续患者都被包括在伊拉斯谟MC癌症研究所,荷兰,并选择BM患者亚组。总的来说,381例mRCC患者(ECM,BM,或两者)被识别。46例患者患有BM,其中39例患有异时BM(ECM后诊断≥1个月)。在这39例异时性BM患者中,有25例(64.1%)接受了先前的ECM全身治疗,而14例(35.9%)患者在BM诊断时初治。与未接受治疗的患者(6.8[IQR1.0-7.0]个月)相比,先前接受治疗的患者(29.0[IQR12.6-57.0]个月)自ECM诊断以来的中位无BM生存期显着更长(p=.02)。总之,与未接受治疗的患者相比,在BM诊断前接受ECM系统治疗的mRCC患者的无BM生存期更长.这些结果强调需要仔细评估治疗策略,尤其是AS,对于mRCC患者。
    A diagnosis of brain metastasis (BM) significantly affects quality of life in patients with metastatic renal cell cancer (mRCC). Although systemic treatments have shown efficacy in mRCC, active surveillance (AS) is still commonly used in clinical practice. In this single-center cohort study, we assessed the impact of different initial treatment strategies for metastatic RCC (mRCC) on the development of BM. All consecutive patients diagnosed with mRCC between 2011 and 2022 were included at the Erasmus MC Cancer Institute, the Netherlands, and a subgroup of patients with BM was selected. In total, 381 patients with mRCC (ECM, BM, or both) were identified. Forty-six patients had BM of whom 39 had metachronous BM (diagnosed ≥1 month after ECM). Twenty-five (64.1%) of these 39 patients with metachronous BM had received prior systemic treatment for ECM and 14 (35.9%) patients were treatment naive at BM diagnosis. The median BM-free survival since ECM diagnosis was significantly longer (p = .02) in previously treated patients (29.0 [IQR 12.6-57.0] months) compared to treatment naive patients (6.8 [IQR 1.0-7.0] months). In conclusion, patients with mRCC who received systemic treatment for ECM prior to BM diagnosis had a longer BM-free survival as compared to treatment naïve patients. These results emphasize the need for careful evaluation of treatment strategies, and especially AS, for patients with mRCC.
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  • 文章类型: Journal Article
    暂无摘要。
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  • 文章类型: Journal Article
    目的:本研究旨在探讨术前身体成分参数的相关性,通过计算机断层扫描在接受肾细胞癌手术的患者中测量,并探讨其分期与术后住院时间和生存率的关系。
    方法:人口统计数据,病理结果,癌症阶段,回顾性分析了2019年至2023年因肾癌在泌尿外科诊所接受手术的104例患者的住院时间。在诊断期间获得的计算机断层扫描扫描中,内脏脂肪组织,皮下脂肪组织,总脂肪组织,测量骨骼肌面积。计算身体成分参数的比率。
    结果:当分析死亡患者的生存时间与身体成分之间的相关性时,骨骼肌面积值与总脂肪组织/骨骼肌面积比之间存在中等但显著的相关性(r=0.630,p=0.001;r=0.598,p=0.002).在总脂肪组织值和存活率之间观察到显著且强的相关性(r=0.704,p<0.001)。发现皮下脂肪组织/骨骼肌面积是与死亡率相关的独立危险因素。0.98或更低的比率增加了约16倍的死亡风险.
    结论:计算机断层扫描测量的身体成分参数之间的关系,这可以很容易地评估预处理,和死亡率,可以评估术后恢复和住院时间,让临床医生了解患者在治疗过程中可能遇到的潜在困难。为此,皮下脂肪组织/骨骼肌面积比是可以使用的最有用的参数。

    This study aims to investigate the association of preoperative body composition parameters, measured by computed tomography in patients undergoing surgery for renal cell carcinoma, with its stage and to survey the relationship with postoperative hospitalization duration and survival.
    Demographic data, pathology results, cancer stages, and hospitalization duration of 104 patients undergoing surgery at the urology clinic due to renal cell carcinoma between 2019 and 2023 were analyzed retrospectively. On computed tomography scans acquired during diagnosis, visceral adipose tissue, subcutaneous adipose tissue, total adipose tissue, and skeletal muscle area were measured. The ratios of body composition parameters were computed.
    When the correlation between survival time and body composition in deceased patients was analysed, a moderate but significant correlation was observed between skeletal muscle area value and total adipose tissue / skeletal muscle area ratio (r=0.630, p=0.001; r=0.598, p=0.002). A significant and strong correlation was observed between total adipose tissue value and survival (r=0.704, p<0.001). Subcutaneous adipose tissue / skeletal muscle area was found to be an independent risk factor associated with mortality, and a ratio of 0.98 or less increased the mortality risk approximately 16-fold.
    The relationship between body composition parameters measured by computed tomography, which can be easily evaluated pre-treatment, and mortality, postoperative recovery and length of hospital stay can be evaluated, giving clinicians an idea about the potential difficulties that patients may encounter during the treatment process. For this purpose, the subcutaneous adipose tissue / skeletal muscle area ratio is the most helpful parameter that can be used.

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  • 文章类型: Journal Article
    肾细胞癌(RCC)是一种发病率和复发率都很高的肿瘤。循环肿瘤细胞(CTCs)在肾癌中的应用仍存在争议。因此,我们进行了一项荟萃分析,以阐明CTC在RCC中的诊断和预后价值.为了得到一个准确的结论,在Pubmed进行了系统的搜索,Cochrane数据库,Embase和WebofScience至2022年12月1日。我们还进一步确定了相关研究中的参考文献。诊断准确性变量(灵敏度,特异性)和比值比(ORs)以及相应的95%置信区间(CIs)用于获取CTC的准确性以及CTC与疾病分期之间的关系,分别。异质性检验,敏感性分析,还应用了元回归和发表偏差。共有12项研究涉及767名患者被认为包括在最终的荟萃分析中。结果表明,总体灵敏度,肾癌中CTC检测的特异性分别为45%(95CI,32-60%)和99%(95CI,97-100%),分别。在亚组分析中,CTC在透明细胞肾细胞癌(ccRCC)中的诊断敏感性(69%,95CI;50-88%)显著高于其他RCC亚型(34%,95CI;21-48%)(p<0.05)。同时,晚期疾病(III-IV期)比局部疾病(I-II期)更容易发现CTC(OR,2.29;95CI,1.37-3.83;p=0.002)。这项系统评价和荟萃分析表明,CTC检测可以被认为是RCC的一种有前途的辅助诊断和分期方法。尤其是ccRCC亚型。同时,细胞角蛋白阳性CTC的存在很可能与RCC不良预后风险增加相关.
    Renal cell carcinoma (RCC) is a type of tumor with high morbidity and recurrence rates. The application of circulating tumor cells (CTCs) in RCC remains controversial. Hence, we performed a meta-analysis to elucidate the diagnostic and prognostic value of CTCs in RCC. To obtain a precise conclusion, a systematic search was conducted in Pubmed, Cochrane Database, Embase and Web of Science up to Dec 01, 2022. We also further identified the references in relevant studies. The diagnostic accuracy variables (sensitivity, specificity) and odds ratios (ORs) with corresponding 95% confidence intervals (CIs) were used to access precise of CTCs and relationship between CTCs and disease stages, respectively. Heterogeneity test, sensitivity analysis, meta-regression and publishing bias were also applied. A total of 12 studies involving 767 patients were considered to be included in the final meta-analysis. The results revealed that the overall sensitivity, specificity of CTC detection in RCC were 45% (95%CI, 32-60%) and 99% (95%CI, 97-100%), respectively. In subgroup analysis, diagnostic sensitivity of CTCs in clear cell renal cell carcinoma (ccRCC) (69%, 95%CI; 50-88%) was significantly higher than other RCC subtypes (34%, 95%CI; 21-48%) (p<0.05). Meanwhile, advanced diseases (stage III-IV) were more likely to find CTCs than localized diseases (stage I-II) (OR, 2.29; 95%CI, 1.37-3.83; p = 0.002). This systematic review and meta-analysis demonstrated that CTC detection could be considered as a promising auxiliary diagnostic and staging method for RCC, especially ccRCC subtype. Meanwhile, the presence of cytokeratin-positive CTCs is highly likely associated with increased risk of poor prognosis in RCC.
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  • 文章类型: Case Reports
    背景:多原发癌(MPC)由于其发病率的增加而在医学研究中引起了关注。浸润性乳腺癌与肾透明细胞癌并存,还有家族癌症史,突出了MPC的多因素起源,特别是它们与遗传因素的潜在关联。
    方法:一名70岁的女性最初寻求医疗护理,因为她的主要问题集中在长期的肿块上。临床评估和影像学研究显示浸润性乳腺癌诊断,同时,她的左肾偶发肿块被确定为透明细胞癌。
    结论:重点和进一步的研究应该是遗传因素在MPC发育中的潜在作用。需要全面的遗传评估。
    结论:这项研究强调了定制治疗方法对每种恶性肿瘤的重要性,促进早期检测,改善患者预后,增强对MPC的理解。
    BACKGROUND: Multiple primary cancers (MPCs) have attracted attention in medical research due to their increasing incidence. The coexistence of invasive breast carcinoma and clear cell carcinoma of the kidney, alongside a family history of cancer, highlights the multifactorial origins of MPCs, particularly their potential association with genetic factors.
    METHODS: A 70-year-old female initially sought medical attention for a two-year history of a right breast lump as her primary concerns centered on the long-standing lump. Clinical evaluations and imaging studies revealed an invasive breast carcinoma diagnosis, and simultaneously, an incidental mass in her left kidney was identified as clear cell carcinoma.
    CONCLUSIONS: Emphasis and further researh should be on the potential role of genetic factors in MPC development, necessitating comprehensive genetic evaluations.
    CONCLUSIONS: This study highlights the significance of customized treatment approaches for each malignancy, facilitating early detection, improved patient outcomes, and an enhanced understanding of MPCs.
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  • 文章类型: Journal Article
    背景:遗传性平滑肌瘤病和肾细胞癌综合征是一种罕见的常染色体显性遗传综合征。以前,我们发表了西班牙最大的FH突变携带者队列,并观察到一个高度复发的错义杂合变体,FH(NM_000143.4):c.1118A>Gp.(Asn373Ser),来自31个明显无关家庭的104个人。这里,我们旨在建立其创始人效应并表征相关的临床表型。
    结果:单倍型分析证实,家族共有一个共同的单倍型(32/38标记),跨越0.61-0.82Mb,表明这种反复变异是继承自创始人的祖先。在64.6%(64/99)和98%(50/51)的患者中诊断出皮肤和子宫平滑肌瘤病,分别,肾细胞癌的发生率为10.4%(10/96)。致病性FH_c.1118A>G变体是西班牙的创始人突变,起源于12-26代以前。我们估计该变体可能出现在1370和1720之间。与该综合征的其他队列相比,携带该创始人突变的个体的肾细胞癌发生率相似,肾囊肿和平滑肌瘤发生率更高。
    结论:在西班牙的阿利坎特省,由于创始人突变FHc.1118A>G;p。(Asn373Ser),HLRCC的患病率很高。创始人突变的表征提供了有关其外显率和表现力的准确而具体的信息。在阿利坎特省怀疑有HLRCC的个人中,通过直接分析创始人FHc.1118A>G;p.(Asn373Ser)突变进行基因检测,与完整的基因测序相比,可能是一种更快,更有效的诊断工具。
    BACKGROUND: Hereditary leiomyomatosis and renal cell cancer syndrome is a rare autosomal dominant hereditary syndrome. Previously, we published the largest cohort of FH mutation carriers in Spain and observed a highly recurrent missense heterozygous variant, FH(NM_000143.4):c.1118A > G p.(Asn373Ser), in 104 individuals from 31 apparently unrelated families. Here, we aimed to establish its founder effect and characterize the associated clinical phenotype.
    RESULTS: Haplotype analysis confirmed that families shared a common haplotype (32/38 markers) spanning 0.61-0.82 Mb, indicating this recurrent variant was inherited from a founder ancestor. Cutaneous and uterine leiomyomatosis were diagnosed in 64.6% (64/99) and 98% (50/51) of patients, respectively, and renal cell cancer was present in 10.4% (10/96). The pathogenic FH_c.1118A > G variant is a Spanish founder mutation that originated 12-26 generations ago. We estimate that the variant may have appeared between 1370 and 1720. Individuals carrying this founder mutation had similar frequency of renal cell cancer and a higher frequency of renal cysts and leiomyomas than those in other cohorts of this syndrome.
    CONCLUSIONS: In the Spanish province of Alicante there is a high prevalence of HLRCC because of the founder mutation FH c.1118A > G; p.(Asn373Ser). The characterization of founder mutations provides accurate and specific information regarding their penetrance and expressivity. In individuals with suspected HLRCC from the province of Alicante, genetic testing by direct analysis of the founder FH c.1118A > G; p.(Asn373Ser) mutation may be a faster and more efficient diagnostic tool compared with complete gene sequencing.
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