Radiogenomics

放射基因组学
  • 文章类型: Journal Article
    背景:高级别浆液性卵巢癌(HGSOC),以其异质性而闻名,复发率高,和转移,通常在分散在几个地点后被诊断出来,约80%的患者经历复发。尽管对其转移性有了更好的了解,HGSOC患者的生存率仍然很低。
    方法:我们的研究利用空间转录组学(ST)来解释肿瘤微环境,并利用计算机断层扫描(CT)来检查8例HGSOC患者的空间特征,这些患者分为复发(R)和具有挑战性的非复发(NR)组。
    结果:通过整合ST数据与公共单细胞RNA测序数据,批量RNA测序数据,和CT数据,我们鉴定了与CT表型相关的特定细胞群富集和差异表达基因.重要的是,我们阐明了肿瘤坏死因子-α通过NF-κB,氧化磷酸化,G2/M检查点,E2F目标,和MYC目标作为复发的指标(不良预后标志物),这些途径在R组和某些CT表型中均显着富集。此外,我们确定了许多提示无复发的预后标志物(良好的预后标志物).在内部HGSOC样品以及公共HGSOCTCIA和TCGA样品中,PTGDS的表达下调与较高数量的接种位点(≥3个)有关。此外,根据我们的ST数据,R组肿瘤区和间质区的PTGDS表达低于NR组.在我们的ST和放射基因组学分析中,趋化性相关标志物(CXCL14和NTN4)和与免疫调节相关的标志物(DAPL1和RNASE1)也被发现是良好的预后标志物。
    结论:这项研究证明了放射性基因组学的潜力,结合CT和ST,用于确定HGSOC的诊断和治疗靶标,标志着个性化医疗迈出了一步。
    BACKGROUND: High-grade serous ovarian cancer (HGSOC), which is known for its heterogeneity, high recurrence rate, and metastasis, is often diagnosed after being dispersed in several sites, with about 80% of patients experiencing recurrence. Despite a better understanding of its metastatic nature, the survival rates of patients with HGSOC remain poor.
    METHODS: Our study utilized spatial transcriptomics (ST) to interpret the tumor microenvironment and computed tomography (CT) to examine spatial characteristics in eight patients with HGSOC divided into recurrent (R) and challenging-to-collect non-recurrent (NR) groups.
    RESULTS: By integrating ST data with public single-cell RNA sequencing data, bulk RNA sequencing data, and CT data, we identified specific cell population enrichments and differentially expressed genes that correlate with CT phenotypes. Importantly, we elucidated that tumor necrosis factor-α signaling via NF-κB, oxidative phosphorylation, G2/M checkpoint, E2F targets, and MYC targets served as an indicator of recurrence (poor prognostic markers), and these pathways were significantly enriched in both the R group and certain CT phenotypes. In addition, we identified numerous prognostic markers indicative of nonrecurrence (good prognostic markers). Downregulated expression of PTGDS was linked to a higher number of seeding sites (≥ 3) in both internal HGSOC samples and public HGSOC TCIA and TCGA samples. Additionally, lower PTGDS expression in the tumor and stromal regions was observed in the R group than in the NR group based on our ST data. Chemotaxis-related markers (CXCL14 and NTN4) and markers associated with immune modulation (DAPL1 and RNASE1) were also found to be good prognostic markers in our ST and radiogenomics analyses.
    CONCLUSIONS: This study demonstrates the potential of radiogenomics, combining CT and ST, for identifying diagnostic and therapeutic targets for HGSOC, marking a step towards personalized medicine.
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  • 文章类型: Journal Article
    这篇全面的综述探讨了放射治疗在癌症治疗中的关键作用。强调遗传分析的多样化应用。这篇综述强调了预测辐射毒性的遗传标记,实现个性化的治疗计划。它深入研究了基因分析对各种癌症类型的放射治疗策略的影响,讨论与治疗反应相关的研究结果,预后,和治疗抗性。基因分析的整合被证明可以改变癌症治疗范式,提供个性化放射治疗方案的见解,并在标准协议可能达不到的情况下指导决策。最终,该综述强调了基因谱分析在提高患者预后和推进肿瘤学精准医疗方面的潜力.
    This comprehensive review explores the pivotal role of radiotherapy in cancer treatment, emphasizing the diverse applications of genetic profiling. The review highlights genetic markers for predicting radiation toxicity, enabling personalized treatment planning. It delves into the impact of genetic profiling on radiotherapy strategies across various cancer types, discussing research findings related to treatment response, prognosis, and therapeutic resistance. The integration of genetic profiling is shown to transform cancer treatment paradigms, offering insights into personalized radiotherapy regimens and guiding decisions in cases where standard protocols may fall short. Ultimately, the review underscores the potential of genetic profiling to enhance patient outcomes and advance precision medicine in oncology.
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  • 文章类型: Journal Article
    本研究旨在探讨肾透明细胞癌(ccRCC)的影像学表现与基因组特征的关系,重点是通过计算机断层扫描(CT)检测到的脂肪分化相关蛋白(ADFP)的表达。目的是建立放射基因组脂质谱并了解其与肿瘤特征的关联。来自癌症基因组图谱(TCGA)和癌症成像档案(TCIA)的数据用于将成像特征与ccRCC中的脂肪分化相关蛋白(ADFP)表达相关联。CT扫描评估了各种肿瘤特征,包括尺寸,composition,margin,坏死,和增长模式,除了测量肿瘤Hounsfield单位(HU)和腹部脂肪组织区室。统计分析比较了人口统计学,临床病理特征,脂肪组织定量,和组间的肿瘤HU。在197名患者中,22.8%的ADFP表达与肾积水显著相关。表达ADFP的低级别ccRCC患者的内脏和皮下脂肪组织数量较高,肿瘤HU值较高。在没有ADFP表达的低度ccRCC患者中观察到类似的趋势。ccRCC中ADFP的表达与特定的影像学特征如肾积水和改变的脂肪组织分布相关。ADFP表达的低度ccRCC患者表现出明显的脂质代谢特征,强调放射学特征之间的关系,基因组表达,和肿瘤代谢。这些发现表明针对肿瘤脂质代谢的个性化诊断和治疗策略的潜力。
    This study aims to explore the relationship between radiological imaging and genomic characteristics in clear cell renal cell carcinoma (ccRCC), focusing on the expression of adipose differentiation-related protein (ADFP) detected through computed tomography (CT). The goal is to establish a radiogenomic lipid profile and understand its association with tumor characteristics. Data from The Cancer Genome Atlas (TCGA) and the Cancer Imaging Archive (TCIA) were utilized to correlate imaging features with adipose differentiation-related protein (ADFP) expression in ccRCC. CT scans assessed various tumor features, including size, composition, margin, necrosis, and growth pattern, alongside measurements of tumoral Hounsfield units (HU) and abdominal adipose tissue compartments. Statistical analyses compared demographics, clinical-pathological features, adipose tissue quantification, and tumoral HU between groups. Among 197 patients, 22.8% exhibited ADFP expression significantly associated with hydronephrosis. Low-grade ccRCC patients expressing ADFP had higher quantities of visceral and subcutaneous adipose tissue and lower tumoral HU values compared to their high-grade counterparts. Similar trends were observed in low-grade ccRCC patients without ADFP expression. ADFP expression in ccRCC correlates with specific imaging features such as hydronephrosis and altered adipose tissue distribution. Low-grade ccRCC patients with ADFP expression display a distinct lipid metabolic profile, emphasizing the relationship between radiological features, genomic expression, and tumor metabolism. These findings suggest potential for personalized diagnostic and therapeutic strategies targeting tumor lipid metabolism.
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  • 文章类型: Journal Article
    背景:三阴性乳腺癌(TNBC)是高度异质性的,导致患者对新辅助化疗(NAC)的反应和预后不同。这项研究旨在表征MRI上TNBC的异质性,并开发一种放射基因组模型来预测病理完全反应(pCR)和预后。
    方法:在这项回顾性研究中,在复旦大学上海肿瘤中心接受新辅助化疗的TNBC患者作为影像学发展队列(n=315);在这些患者中,可获得遗传数据的患者被纳入放射基因组发展队列(n=98).将两个队列的研究群体以7:3的比例随机分为训练集和验证集。外部验证队列(n=77)包括来自DUKE和I-SPY1数据库的患者。使用肿瘤内亚区域和肿瘤周围区域的特征来表征空间异质性。血流动力学异质性的特征在于来自肿瘤体的动力学特征。在选择特征后,通过逻辑回归建立了三个影像组学模型。模型1包括次区域和肿瘤周围特征,模型2包括动力学特征,模型3集成了模型1和模型2的功能。通过进一步整合病理和基因组特征来开发两个融合模型(PRM:病理学-放射组学模型;GPRM:基因组学-病理学-放射组学模型)。通过AUC和决策曲线分析评估模型性能。使用Kaplan-Meier曲线和多变量Cox回归评估预后影响。
    结果:在放射学模型中,代表多尺度异质性的多区域模型(模型3)表现出更好的pCR预测,训练中的AUC为0.87、0.79和0.78,内部验证,和外部验证集,分别。GPRM在训练(AUC=0.97,P=0.015)和验证集(AUC=0.93,P=0.019)中显示出预测pCR的最佳性能。模型3,PRM和GPRM可以通过无病生存期对患者进行分层,预测的非pCR与不良预后相关(P分别为0.034、0.001和0.019)。
    结论:DCE-MRI表征的多尺度异质性能有效预测TNBC患者的pCR和预后。放射基因组学模型可以作为有价值的生物标志物来提高预测性能。
    BACKGROUND: Triple-negative breast cancer (TNBC) is highly heterogeneous, resulting in different responses to neoadjuvant chemotherapy (NAC) and prognoses among patients. This study sought to characterize the heterogeneity of TNBC on MRI and develop a radiogenomic model for predicting both pathological complete response (pCR) and prognosis.
    METHODS: In this retrospective study, TNBC patients who underwent neoadjuvant chemotherapy at Fudan University Shanghai Cancer Center were enrolled as the radiomic development cohort (n = 315); among these patients, those whose genetic data were available were enrolled as the radiogenomic development cohort (n = 98). The study population of the two cohorts was randomly divided into a training set and a validation set at a ratio of 7:3. The external validation cohort (n = 77) included patients from the DUKE and I-SPY 1 databases. Spatial heterogeneity was characterized using features from the intratumoral subregions and peritumoral region. Hemodynamic heterogeneity was characterized by kinetic features from the tumor body. Three radiomics models were developed by logistic regression after selecting features. Model 1 included subregional and peritumoral features, Model 2 included kinetic features, and Model 3 integrated the features of Model 1 and Model 2. Two fusion models were developed by further integrating pathological and genomic features (PRM: pathology-radiomics model; GPRM: genomics-pathology-radiomics model). Model performance was assessed with the AUC and decision curve analysis. Prognostic implications were assessed with Kaplan‒Meier curves and multivariate Cox regression.
    RESULTS: Among the radiomic models, the multiregional model representing multiscale heterogeneity (Model 3) exhibited better pCR prediction, with AUCs of 0.87, 0.79, and 0.78 in the training, internal validation, and external validation sets, respectively. The GPRM showed the best performance for predicting pCR in the training (AUC = 0.97, P = 0.015) and validation sets (AUC = 0.93, P = 0.019). Model 3, PRM and GPRM could stratify patients by disease-free survival, and a predicted nonpCR was associated with poor prognosis (P = 0.034, 0.001 and 0.019, respectively).
    CONCLUSIONS: Multiscale heterogeneity characterized by DCE-MRI could effectively predict the pCR and prognosis of TNBC patients. The radiogenomic model could serve as a valuable biomarker to improve the prediction performance.
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  • 文章类型: Journal Article
    背景:开发并验证基于T2加权磁共振成像(MRI)的影像组学特征与局部晚期宫颈癌的无病生存期(DFS)相关。
    方法:该研究包括132名患者的训练数据集(93挪威人;39癌症成像档案(TCIA)和199名接受放化疗治疗的FIGOIB-IVA期宫颈癌患者的独立验证加拿大数据集。使用PyRadiomics提取放射学特征。基于使用训练数据集建立的DFS的多变量放射学预后模型,开发了放射学签名,最小冗余最大相关性特征选择方法。然后进行单变量和多变量Cox回归分析以检查衍生的放射学组学特征与DFS的关联。
    结果:在训练队列中,影像组学特征是DFS的预后(挪威风险比[HR]5.54,p=0.002;TCIAHR3.59,p=0.04)。当针对分期和肿瘤体积进行调整时,影像组学特征保持与DFS独立相关(HR3.70,p=0.004)。在验证队列中,影像组学特征也是DFS的预后,均进行单变量分析(HR2.22,p=0.003),和多变量分析调整分期和肿瘤体积(HR1.84,p=0.04)。影像组学特征评分>0和≤0的患者的4年DFS率分别为48.2%和87.9%,训练和验证队列分别为56.4%和80.8%。
    结论:在接受放化疗的局部晚期宫颈癌患者中,基于MRI的影像组学特征可作为DFS的预后生物标志物。
    BACKGROUND: To develop and validate a T2-weighted magnetic resonance imaging (MRI)-based radiomic signature associated with disease-free survival (DFS) in locally advanced cervical cancer.
    METHODS: The study comprised a training dataset of 132 patients (93 Norwegian; 39 The Cancer Imaging Archive (TCIA) and an independent validation Canadian dataset of 199 patients with FIGO stage IB-IVA cervical cancer treated with chemoradiation. Radiomic features were extracted using PyRadiomics. A radiomic signature was developed based on a multivariable radiomic prognostic model for DFS built using the training dataset, with minimal redundancy maximum relevancy feature selection method. Univariate and multivariable Cox regression analyses were then conducted to examine the association of the derived radiomic signature with DFS.
    RESULTS: A radiomic signature was prognostic for DFS in the training cohort (Norwegian hazard ratio [HR] 5.54, p = 0.002; TCIA HR 3.59, p = 0.04). The radiomic signature remained independently associated with DFS (HR 3.70, p = 0.004) when adjusted for stage and tumor volume. The radiomic signature was also prognostic for DFS in the validation cohort, both on univariate analysis (HR 2.22, p = 0.003), and multivariable analysis adjusted for stage and tumor volume (HR 1.84, p = 0.04). The 4-year DFS rates of patients with radiomic signature score > 0 vs ≤ 0 were 48.2 % vs 87.9 %, and 56.4 % vs 80.8 % for training and validation cohorts respectively.
    CONCLUSIONS: An MRI-based radiomic signature can be used as a prognostic biomarker for DFS in patients with locally advanced cervical cancer undergoing chemoradiation.
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  • 文章类型: Journal Article
    本研究旨在开发和验证放射基因组学列线图,用于在MRI和microRNAs(miRNA)的基础上预测肝细胞癌(HCC)中的微血管侵袭(MVI)。
    该队列研究包括168例经病理证实的HCC患者(训练队列:n=116;验证队列:n=52),他们接受了术前MRI和血浆miRNA检查。单变量和多变量逻辑回归用于确定与MVI相关的独立危险因素。这些风险因素用于产生列线图。通过受试者工作特征曲线(ROC)分析评估列线图的性能,灵敏度,特异性,准确度,和F1得分。进行决策曲线分析以确定列线图是否在临床上有用。
    MVI的独立危险因素是最大肿瘤长度,rad-score,和miRNA-21(均P<0.001)。敏感性,特异性,准确度,验证队列的列线图和F1评分分别为0.970,0.722,0.884和0.916.验证队列中的列线图的AUC为0.900(95%CI:0.808-0.992),高于任何其他单因素模型(最大肿瘤长度,rad-score,和miRNA-21)。
    放射基因组学列线图在预测HCC中的MVI方面显示出令人满意的预测性能,为肿瘤治疗决策提供了可行和实用的参考。
    UNASSIGNED: This study aimed to develop and validate a radiogenomics nomogram for predicting microvascular invasion (MVI) in hepatocellular carcinoma (HCC) on the basis of MRI and microRNAs (miRNAs).
    UNASSIGNED: This cohort study included 168 patients (training cohort: n = 116; validation cohort: n = 52) with pathologically confirmed HCC, who underwent preoperative MRI and plasma miRNA examination. Univariate and multivariate logistic regressions were used to identify independent risk factors associated with MVI. These risk factors were used to produce a nomogram. The performance of the nomogram was evaluated by receiver operating characteristic curve (ROC) analysis, sensitivity, specificity, accuracy, and F1-score. Decision curve analysis was performed to determine whether the nomogram was clinically useful.
    UNASSIGNED: The independent risk factors for MVI were maximum tumor length, rad-score, and miRNA-21 (all P < 0.001). The sensitivity, specificity, accuracy, and F1-score of the nomogram in the validation cohort were 0.970, 0.722, 0.884, and 0.916, respectively. The AUC of the nomogram was 0.900 (95% CI: 0.808-0.992) in the validation cohort, higher than that of any other single factor model (maximum tumor length, rad-score, and miRNA-21).
    UNASSIGNED: The radiogenomics nomogram shows satisfactory predictive performance in predicting MVI in HCC and provides a feasible and practical reference for tumor treatment decisions.
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  • 文章类型: Journal Article
    目的:本研究旨在确定乳腺动态对比增强(DCE)MRI的影像学特征是否以及哪些可以预测三阴性乳腺癌(TNBC)患者BRCA1突变的存在。
    方法:这项回顾性研究包括2010-2021年连续接受乳腺DCE-MRI检查的组织学诊断为TNBC的患者。回顾性审查基线DCE-MRI;计算洗入和洗出百分比图,并手动分割乳腺病变,在肿瘤内部绘制5mm-感兴趣区域(ROI),并且在对侧健康腺体内部绘制另一5mm-ROI。用Pyradiomics-3D切片器提取每个图和每个ROI的特征,并首先单独考虑(肿瘤和对侧腺体),然后一起考虑。在每个分析中,使用最大相关性最小冗余算法选择了BRCA1状态分类的更重要特征,并用于拟合四个分类器。
    结果:该人群包括67例患者和86个病变(BRCA1突变,65在非BRCA携带者中)。在符合腺体和肿瘤特征的模型中,BRCA突变的最佳分类器是支持向量分类器和Logistic回归。ROC曲线下面积(AUC)为0.80(SD0.21)和0.79(SD0.20),分别。与非BRCA突变相比,BRCA1突变的三个特征更高:总能量和灰度共生矩阵的相关性,两者都是在冲洗图中测量的对侧腺体,和均方根,从肿瘤的清除图中选择。
    结论:本研究显示了乳腺DCE-MRI影像组学研究的可行性,以及影像组学在预测BRCA1突变状态方面的潜力。
    OBJECTIVE: The research aimed to determine whether and which radiomic features from breast dynamic contrast enhanced (DCE) MRI could predict the presence of BRCA1 mutation in patients with triple-negative breast cancer (TNBC).
    METHODS: This retrospective study included consecutive patients histologically diagnosed with TNBC who underwent breast DCE-MRI in 2010-2021. Baseline DCE-MRIs were retrospectively reviewed; percentage maps of wash-in and wash-out were computed and breast lesions were manually segmented, drawing a 5 mm-Region of Interest (ROI) inside the tumor and another 5 mm-ROI inside the contralateral healthy gland. Features for each map and each ROI were extracted with Pyradiomics-3D Slicer and considered first separately (tumor and contralateral gland) and then together. In each analysis the more important features for BRCA1 status classification were selected with Maximum Relevance Minimum Redundancy algorithm and used to fit four classifiers.
    RESULTS: The population included 67 patients and 86 lesions (21 in BRCA1-mutated, 65 in non BRCA-carriers). The best classifiers for BRCA mutation were Support Vector Classifier and Logistic Regression in models fitted with both gland and tumor features, reaching an Area Under ROC Curve (AUC) of 0.80 (SD 0.21) and of 0.79 (SD 0.20), respectively. Three features were higher in BRCA1-mutated compared to non BRCA-mutated: Total Energy and Correlation from gray level cooccurrence matrix, both measured in contralateral gland in wash-out maps, and Root Mean Squared, selected from the wash-out map of the tumor.
    CONCLUSIONS: This study showed the feasibility of a radiomic study with breast DCE-MRI and the potential of radiomics in predicting BRCA1 mutational status.
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  • 文章类型: Journal Article
    背景:影像组学提供了预测术前影像学结果的潜力,以识别复发风险增加的“高风险”患者。影像组学在预测疾病复发中的应用提供了治疗策略的定制。我们旨在全面评估现有文献中关于影像组学作为胃癌疾病复发预测因子的当前作用。
    方法:在Medline进行了系统搜索,EMBASE,和WebofScience数据库。纳入标准包括回顾性和前瞻性研究,调查使用影像组学预测卵巢癌术后复发。使用QUADAS-2和Radiomics质量评分工具评估研究质量。
    结果:九项研究符合纳入标准,共涉及6,662名参与者。基于放射学的列线图在预测疾病复发方面表现一致,如接收器工作特征曲线值(AUC范围0.72-1)下令人满意的面积所证明。使用反方差方法计算的训练和验证数据集的合并AUC分别为0.819和0.789。结论:我们的综述提供了很好的证据支持影像组学作为胃癌术后疾病复发预测因子的作用。纳入的研究指出,在预测其主要结果方面表现良好。影像组学可以通过根据预测的预后定制治疗决策来增强个性化医疗。
    BACKGROUND: Radiomics offers the potential to predict oncological outcomes from pre-operative imaging in order to identify \'high risk\' patients at increased risk of recurrence. The application of radiomics in predicting disease recurrence provides tailoring of therapeutic strategies. We aim to comprehensively assess the existing literature regarding the current role of radiomics as a predictor of disease recurrence in gastric cancer.
    METHODS: A systematic search was conducted in Medline, EMBASE, and Web of Science databases. Inclusion criteria encompassed retrospective and prospective studies investigating the use of radiomics to predict post-operative recurrence in ovarian cancer. Study quality was assessed using the QUADAS-2 and Radiomics Quality Score tools.
    RESULTS: Nine studies met the inclusion criteria, involving a total of 6,662 participants. Radiomic-based nomograms demonstrated consistent performance in predicting disease recurrence, as evidenced by satisfactory area under the receiver operating characteristic curve values (AUC range 0.72 - 1). The pooled AUCs calculated using the inverse-variance method for both the training and validation datasets were 0.819 and 0.789 respectively CONCLUSION: Our review provides good evidence supporting the role of radiomics as a predictor of post-operative disease recurrence in gastric cancer. Included studies noted good performance in predicting their primary outcome. Radiomics may enhance personalised medicine by tailoring treatment decision based on predicted prognosis.
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  • 文章类型: Journal Article
    目的:异柠檬酸脱氢酶野生型胶质母细胞瘤是成人中侵袭性最强的原发性脑肿瘤。其浸润性和异质性使预后不佳,尽管多模式治疗。越来越多的人提倡精准医学来提高胶质母细胞瘤的生存率;然而,传统的神经成像技术不足以提供准确诊断这种复杂疾病所需的细节。
    结果:先进的磁共振成像可以更全面地了解肿瘤微环境。结合扩散和灌注磁共振成像以创建多参数扫描增强了诊断能力,并且可以通过标准成像克服肿瘤表征的不可靠性。深度学习算法的最新进展确立了它们在图像识别任务中的卓越能力。将这些与多参数扫描集成可以通过确保捕获整个肿瘤来改变患者的诊断和监测。作为一个推论,影像组学已经成为一种强大的方法来提供诊断的见解,预后,治疗,以及通过从放射扫描中提取信息的肿瘤反应,并将这些肿瘤特征转化为定量数据。放射性基因组学,它将成像特征与基因组图谱联系起来,表现出了胶质母细胞瘤的表征能力,并确定治疗反应,有可能彻底改变胶质母细胞瘤的管理。将深度学习算法集成到放射学模型中,建立了一个自动化、高度可重复的手段来预测胶质母细胞瘤的分子特征,进一步帮助预后和靶向治疗。然而,挑战,包括缺乏大型队列,缺乏标准化的指导方针和深度学习算法的“黑匣子”性质,在将此工作流程应用于临床实践之前,必须首先克服。
    OBJECTIVE: Isocitrate dehydrogenase wild-type glioblastoma is the most aggressive primary brain tumour in adults. Its infiltrative nature and heterogeneity confer a dismal prognosis, despite multimodal treatment. Precision medicine is increasingly advocated to improve survival rates in glioblastoma management; however, conventional neuroimaging techniques are insufficient in providing the detail required for accurate diagnosis of this complex condition.
    RESULTS: Advanced magnetic resonance imaging allows more comprehensive understanding of the tumour microenvironment. Combining diffusion and perfusion magnetic resonance imaging to create a multiparametric scan enhances diagnostic power and can overcome the unreliability of tumour characterisation by standard imaging. Recent progress in deep learning algorithms establishes their remarkable ability in image-recognition tasks. Integrating these with multiparametric scans could transform the diagnosis and monitoring of patients by ensuring that the entire tumour is captured. As a corollary, radiomics has emerged as a powerful approach to offer insights into diagnosis, prognosis, treatment, and tumour response through extraction of information from radiological scans, and transformation of these tumour characteristics into quantitative data. Radiogenomics, which links imaging features with genomic profiles, has exhibited its ability in characterising glioblastoma, and determining therapeutic response, with the potential to revolutionise management of glioblastoma. The integration of deep learning algorithms into radiogenomic models has established an automated, highly reproducible means to predict glioblastoma molecular signatures, further aiding prognosis and targeted therapy. However, challenges including lack of large cohorts, absence of standardised guidelines and the \'black-box\' nature of deep learning algorithms, must first be overcome before this workflow can be applied in clinical practice.
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  • 文章类型: Journal Article
    了解透明细胞肾细胞癌(ccRCC)的最新进展强调了BAP1基因在其发病机理和预后中的关键作用。虽然vonHippel-Lindau(VHL)突变已经被广泛研究,新出现的证据表明,BAP1和其他基因的突变显著影响患者的预后.有和没有基于CT成像的纹理分析的放射基因组学在预测BAP1突变状态和总体生存结果方面具有希望。然而,需要进行更大队列和标准化成像方案的前瞻性研究,以验证这些发现并将其有效转化为临床实践,为ccRCC的个性化治疗策略铺平了道路。本文就BAP1突变在ccRCC发病机制及预后中的作用进行综述。以及放射基因组学在预测突变状态和临床结局方面的潜力。
    Recent advancements in understanding clear cell renal cell carcinoma (ccRCC) have underscored the critical role of the BAP1 gene in its pathogenesis and prognosis. While the von Hippel-Lindau (VHL) mutation has been extensively studied, emerging evidence suggests that mutations in BAP1 and other genes significantly impact patient outcomes. Radiogenomics with and without texture analysis based on CT imaging holds promise in predicting BAP1 mutation status and overall survival outcomes. However, prospective studies with larger cohorts and standardized imaging protocols are needed to validate these findings and translate them into clinical practice effectively, paving the way for personalized treatment strategies in ccRCC. This review aims to summarize the current knowledge on the role of BAP1 mutation in ccRCC pathogenesis and prognosis, as well as the potential of radiogenomics in predicting mutation status and clinical outcomes.
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