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1.
Clinics ; 78: 100259, 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1506024

ABSTRACT

Abstract Objectives The pathological mechanisms of patients with Renal Cell Carcinoma (RCC) remain defined. This study aimed to evaluate relationships between the landscape of gene mutations and their clinical significance in RCC patients. Methods Tissue and peripheral blood samples of 42 patients with RCC were collected and performed for the Next Generation Sequencing (NGS) with Geneseeq PrimeTM 425-gene panel probes. Their landscapes of gene mutation were analyzed. We also carried out an evaluation of Tumor-Node-Metastasis (TNM) staging, RENAL nephelometry score, surgery, and targeted drug treatment of patients. Then we compared the correlations of landscape in gene mutations and the prognosis. Results The most common gene alternations, including BAP1, PBRM1, SETD2, CSF1R, NPM1, EGFR, POLE, RB1, and VHL genes, were identified in tissue and blood samples of 75% of patients. EGFR, POLE, and RB1 gene mutations frequently occurred in relapsed and metastatic patients. BAP1, CCND2, KRAS, PTPN11, ERBB2/3, JAK2, and POLE were presented in the patients with > 9 RENAL nephelometry score. Univariable analysis indicated that SETD2, BAP1, and PBRM1 genes were key factors for Disease-Free Survival (DFS). Multivariable analysis confirmed that mutated SETD1, NPM1, and CSF1R were critical factors for the Progression Free Survival (PFS) of RCC patients with target therapy. Conclusions Wild-type PBRM1 and mutated BAP1 in patients with RCC were strongly associated with the outcomes of the patient. The PFS of the patients with SETD2, NPM1, and CSF1R mutations were significantly shorter than those patients without variants.

2.
Journal of Modern Urology ; (12): 216-221, 2023.
Article in Chinese | WPRIM | ID: wpr-1006118

ABSTRACT

【Objective】 To investigate the predictive factors of clinical T1 (cT1) stage renal cell carcinoma (RCC) escalation to T3a (pT3a), hoping to identify high-risk patients with occult pT3a features. 【Methods】 A total of 666 patients with cT1 RCC who underwent radical or partial nephrectomy were involved and divided into upstaging group and non-upstaging group. The independent predictive factors of cT1 to pT3a stage were determined with univariate and multivariate logistic regression analyses. A model was established. The area under the receiver operator characteristic (ROC) curve (AUC) and calibration plot were used to assess the predictive model’s discrimination and calibration. 【Results】 The upgrading rate was 11.4% (n=76). The RENAL score, neutrophil-to-lymphocyte ratio (NLR), prognosis nutrition index (PNI) and Cystatin C (Cys C) were correlated to pT3a upgrading. Our model exhibited good discrimination (AUC=0.726, 95%CI:0.662-0.791) and decent calibration. In the internal validation, the high C-index value of 0.717 was still attainable. 【Conclusions】 RENAL score, NLR, PNI, and Cys C can be used to predict the risk of postoperative pT3a stage escalation in patients with cT1 stage renal cancer. Urologists can complete risk stratification and treatment based on these indicators.

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