Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 4.192
Filtrar
1.
Medicine (Baltimore) ; 99(36): e22057, 2020 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-32899070

RESUMO

INTRODUCTION: Based on existing literature, the juxtaglomerular cell tumor (JGCT) is a rare renal tumor, typically present with hypertension and hypokalemia. Nonfunctioning JGCT, without hypertension or hypokalemia, is extremely rare. PATIENT CONCERNS: Herein, we report a case of nonfunctioning JGCT mimicking renal cell carcinoma. The 29-year-old woman with an unremarkable past medical history presented with a left renal tumor without hypertension or hypokalemia. DIAGNOSIS: Both CT and 18F-FDG-PET/CT suggested a malignancy, possibly renal cell carcinoma. INTERVENTIONS: The tumor was then removed completely via robotic assistant laparoscopic partial nephrectomy; and pathology result was JGCT. Since the patient had no hypertension or hypokalemia, a nonfunctional JGCT was diagnosed. OUTCOMES: The patient recovered uneventfully, and was in good health in 6-months' follow-up period. CONCLUSION: Preoperative identification of JGCT is very difficult due to the lack of specific clinical manifestations. This case teaches us that for young patients with renal tumors whose CT enhancement is not obvious at the early phase, JGCT should be considered as a differential diagnosis. Radical nephrectomy should be avoided for JGCT in consideration of its relatively good prognosis.


Assuntos
Carcinoma de Células Renais/diagnóstico , Sistema Justaglomerular/patologia , Neoplasias Renais/patologia , Neoplasias/cirurgia , Adulto , Assistência ao Convalescente , Diagnóstico Diferencial , Feminino , Fluordesoxiglucose F18/administração & dosagem , Humanos , Neoplasias Renais/diagnóstico por imagem , Laparoscopia/instrumentação , Nefrectomia/métodos , Nefrectomia/tendências , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons/métodos , Procedimentos Cirúrgicos Robóticos/métodos , Resultado do Tratamento
2.
Medicine (Baltimore) ; 99(21): e20470, 2020 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-32481352

RESUMO

Clear cell renal cell carcinoma (ccRCC) is the most common subtype among renal cancer, and more and more researches find that the occurrence of ccRCC is associated with genetic changes, but the molecular mechanism still remains unclear. The present study aimed to identify aggregation trend of differentially expressed genes (DEGs) in ccRCC, which would be beneficial to the treatment of ccRCC and provide research ideas using a series of bioinformatics approach. Gene ontology (GO) and Kyoto Encyclopedia of Gene and Genomes (KEGG) analysis were used to get the enrichment trend of DEGs of GSE53757 and GSE16449. Draw Venn Diagram was applied for co-expression of DEGs. Cytoscape with the Retrieval of Interacting Gene (STRING) datasets and Molecular Complex Detection (MCODE) were performed protein-protein interaction (PPI) of DEGs. The Kaplan-Meier Plotter analysis of top 15 upregulated and top 15 downregulated were selected in Gene Expression Profiling Interactive Analysis (GEPIA). Then, the expression level of hub genes between normal renal tissue and different pathological stages of ccRCC tissue, which significantly correlated with overall survival in ccRCC patients, were also analyzed by Ualcan based on The Cancer Genome Atlas (TCGA) database. In this study, we got 167 co-expression DEGs, including 72 upregulated DEGs and 95 downregulated DEGs. We identified 11 hub genes had significantly correlated with overall survival in ccRCC patients. Among them, KIF23, APLN, ADCY1, GREB1, TLR4, IRF8, CXCL1, CXCL2, deserved our attention.


Assuntos
Adenocarcinoma de Células Claras/genética , Carcinoma de Células Renais/genética , Biologia Computacional/estatística & dados numéricos , Perfilação da Expressão Gênica/métodos , Estudos Observacionais como Assunto/normas , Adenocarcinoma de Células Claras/diagnóstico , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Carcinoma de Células Renais/diagnóstico , Biologia Computacional/métodos , Bases de Dados Factuais/estatística & dados numéricos , Epidemiologia/instrumentação , Perfilação da Expressão Gênica/instrumentação , Perfilação da Expressão Gênica/estatística & dados numéricos , Humanos , Estimativa de Kaplan-Meier
3.
Br J Radiol ; 93(1112): 20190974, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32479108

RESUMO

OBJECTIVES: To assess the combined diagnostic strategy of contrast-enhanced ultrasound (CEUS) and acoustic radiation force impulse (ARFI) in the precise differential diagnosis of clear cell renal cell carcinoma (CCRCC) and urothelium carcinoma of the renal pelvis (UCRP) with other small renal tumors (SRTs) <3 cm in size. METHODS: The elastography self-corrected CEUS (ESC) mode was established to perform the quantitative differential diagnosis of SRTs (<3 cm). The kidney shear wave velocity (SWV) value recorded by ARFI showed substantial variability in patients with CCRCC (high elasticity value) and UCRP (low elasticity value) compared with other renal masses, thus providing critical self-correction information for the ultrasound differential diagnosis of SRTs. RESULTS: In this work, the ESC observations and the corresponding ESC criteria show a remarkable 94.6% accuracy in reference to the gold standards, thus allowing the quantitative, early triple distinction of CCRCC with UCRP and other SRTs in patients with suspicious SRTs. CONCLUSIONS: This ARFI self-corrected CEUS diagnostic strategy is far beyond a screening method and may have the potential to identify a window of therapeutic opportunity in which emerging therapies might be applied to patients with CCRCC and UCRP, reducing overtreatment and medical costs. ADVANCES IN KNOWLEDGE: In our study, a new rapid and non-invasive elastography self-corrected CEUS (ESC) ultrasound imaging mode was developed, which was useful in the triple distinction of CCRCC, UCRP, and other SRTs with 94.6% accuracy. ESC is a promising method in the differential diagnosis of SRTs with accuracy and practicability far beyond a single screening model.


Assuntos
Carcinoma de Células Renais/diagnóstico por imagem , Meios de Contraste , Técnicas de Imagem por Elasticidade/métodos , Neoplasias Renais/diagnóstico por imagem , Ultrassonografia/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/patologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Humanos , Rim/diagnóstico por imagem , Rim/patologia , Neoplasias Renais/diagnóstico , Neoplasias Renais/patologia , Pelve Renal/diagnóstico por imagem , Pessoa de Meia-Idade , Adulto Jovem
4.
Nat Med ; 26(7): 1041-1043, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32572266

RESUMO

Improving early cancer detection has the potential to substantially reduce cancer-related mortality. Cell-free methylated DNA immunoprecipitation and high-throughput sequencing (cfMeDIP-seq) is a highly sensitive assay capable of detecting early-stage tumors. We report accurate classification of patients across all stages of renal cell carcinoma (RCC) in plasma (area under the receiver operating characteristic (AUROC) curve of 0.99) and demonstrate the validity of this assay to identify patients with RCC using urine cell-free DNA (cfDNA; AUROC of 0.86).


Assuntos
Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/genética , Metilação de DNA/genética , Detecção Precoce de Câncer , Biomarcadores Tumorais/genética , Carcinoma de Células Renais/sangue , Carcinoma de Células Renais/urina , Ácidos Nucleicos Livres/sangue , Ácidos Nucleicos Livres/genética , Ácidos Nucleicos Livres/urina , Epigenoma/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos
5.
Cancer Sci ; 111(7): 2570-2578, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32350988

RESUMO

Using surgically resected tissue, we identified characteristic metabolites related to the diagnosis and malignant status of clear cell renal cell carcinoma (ccRCC). Specifically, we quantified these metabolites in urine samples to evaluate their potential as clinically useful noninvasive biomarkers of ccRCC. Between January 2016 and August 2018, we collected urine samples from 87 patients who had pathologically diagnosed ccRCC and from 60 controls who were patients with benign urological conditions. Metabolite concentrations in urine samples were investigated using liquid chromatography-mass spectrometry with an internal standard and adjustment based on urinary creatinine levels. We analyzed the association between metabolite concentration and predictability of diagnosis and of malignant status by multiple logistic regression and receiver operating characteristic (ROC) curves to establish ccRCC predictive models. Of the 47 metabolites identified in our previous study, we quantified 33 metabolites in the urine samples. Multiple logistic regression analysis revealed 5 metabolites (l-glutamic acid, lactate, d-sedoheptulose 7-phosphate, 2-hydroxyglutarate, and myoinositol) for a diagnostic predictive model and 4 metabolites (l-kynurenine, l-glutamine, fructose 6-phosphate, and butyrylcarnitine) for a predictive model for clinical stage III/IV. The sensitivity and specificity of the diagnostic predictive model were 93.1% and 95.0%, respectively, yielding an area under the ROC curve (AUC) of 0.966. The sensitivity and specificity of the predictive model for clinical stage were 88.5% and 75.4%, respectively, with an AUC of 0.837. In conclusion, quantitative analysis of urinary metabolites yielded predictive models for diagnosis and malignant status of ccRCC. Urinary metabolites have the potential to be clinically useful noninvasive biomarkers of ccRCC to improve patient outcomes.


Assuntos
Biomarcadores Tumorais , Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/urina , Neoplasias Renais/diagnóstico , Neoplasias Renais/urina , Adulto , Idoso , Idoso de 80 Anos ou mais , Área Sob a Curva , Cromatografia Líquida , Comorbidade , Feminino , Humanos , Masculino , Metaboloma , Metabolômica/métodos , Pessoa de Meia-Idade , Gradação de Tumores , Estadiamento de Neoplasias , Prognóstico , Sensibilidade e Especificidade , Espectrometria de Massas em Tandem
6.
Nat Med ; 26(5): 693-698, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32405063

RESUMO

Although elevated plasma interleukin-8 (pIL-8) has been associated with poor outcome to immune checkpoint blockade 1, this has not been comprehensively evaluated in large randomized studies. Here we analyzed circulating pIL-8 and IL8 gene expression in peripheral blood mononuclear cells and tumors of patients treated with atezolizumab (anti-PD-L1 monoclonal antibody) from multiple randomized trials representing 1,445 patients with metastatic urothelial carcinoma (mUC) and metastatic renal cell carcinoma. High levels of IL-8 in plasma, peripheral blood mononuclear cells and tumors were associated with decreased efficacy of atezolizumab in patients with mUC and metastatic renal cell carcinoma, even in tumors that were classically CD8+ T cell inflamed. Low baseline pIL-8 in patients with mUC was associated with increased response to atezolizumab and chemotherapy. Patients with mUC who experienced on-treatment decreases in pIL-8 exhibited improved overall survival when treated with atezolizumab but not with chemotherapy. Single-cell RNA sequencing of the immune compartment showed that IL8 is primarily expressed in circulating and intratumoral myeloid cells and that high IL8 expression is associated with downregulation of the antigen-presentation machinery. Therapies that can reverse the impacts of IL-8-mediated myeloid inflammation will be essential for improving outcomes of patients treated with immune checkpoint inhibitors.


Assuntos
Antineoplásicos Imunológicos/uso terapêutico , Antígeno B7-H1/antagonistas & inibidores , Interleucina-8/metabolismo , Neoplasias/diagnóstico , Neoplasias/tratamento farmacológico , Adulto , Anticorpos Monoclonais Humanizados/uso terapêutico , Antígeno B7-H1/imunologia , Biomarcadores Farmacológicos/sangue , Biomarcadores Farmacológicos/metabolismo , Biomarcadores Tumorais/sangue , Biomarcadores Tumorais/metabolismo , Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/tratamento farmacológico , Carcinoma de Células Renais/metabolismo , Carcinoma de Células Renais/mortalidade , Carcinoma de Células de Transição/diagnóstico , Carcinoma de Células de Transição/tratamento farmacológico , Carcinoma de Células de Transição/metabolismo , Carcinoma de Células de Transição/mortalidade , Resistencia a Medicamentos Antineoplásicos , Feminino , Humanos , Interleucina-8/sangue , Neoplasias Renais/diagnóstico , Neoplasias Renais/tratamento farmacológico , Neoplasias Renais/metabolismo , Neoplasias Renais/mortalidade , Masculino , Neoplasias/metabolismo , Neoplasias/mortalidade , Prognóstico , Análise de Sobrevida , Falha de Tratamento , Neoplasias Urológicas/diagnóstico , Neoplasias Urológicas/tratamento farmacológico , Neoplasias Urológicas/metabolismo , Neoplasias Urológicas/mortalidade
7.
Tunis Med ; 98(2): 131-137, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32395802

RESUMO

INTRODUCTION: The subdivision into two entities of papillary renal cell carcinoma (PRCC) was established on histological criteria. It's in fact possible to distinguish the two subtypes by the means of radiological and progressive data. The subtype 1 is associated with the favorable profile. The ultrasound and especially CT urography ensure an accurate diagnostic approach with substantial therapeutic and prognostic involvement. The aim of the study is to define the radiological features that distinguish the two subtypes of renal papillary carcinoma, and to study the radiological predictive factors of locoregional recurrence, metastases free survival and specific survival. METHODS: It's about a monocentric, retrospective study led between January 2005 and June 2017, gathering 49 cases of operated PRCC. The study concerned patients over the age of 18, who were diagnosed after anatomopathological examination of the operative specimen (enlarged nephrectomy or conservative surgery). Cases in which diagnosis was made by renal biopsy were excluded. The comparative study concerned ultrasound and CT scan data. Univariate and multivariate analysis were performed to determine factors having a prognostic value in terms of locoregional recurrence, metastases-free and specific survival. RESULTS: On the ultrasound, the subtype 1 tumors were significantly homogenous with regular contours. Tumors were globally spontaneously hypodense and hypo vascular in 97,8% of cases. Enhancement was significantly more heterogonous for subtype 2 (p=0,01). Intratumoral necrosis and adenomegalies were associated with subtype 2 (p=0,0001 and 0,005). The predictive factors of locoregional recurrence, metastases-free survival and specific survival in univariate analysis were the contours' aspect, moderate enhancement and the presence of adenomegalies. On multivariate analysis, only the irregular contours were retained for locoregional recurrence-free survival and specific survival. CONCLUSIONS: Significant differences between the PRCC subtypes were observed when studying the radiological data. Irregular contours, adenomegalies and enhancement degree seemed to predict the progression of PRCC after curative surgery.


Assuntos
Carcinoma de Células Renais/diagnóstico , Diagnóstico por Imagem/métodos , Neoplasias Renais/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Renais/mortalidade , Carcinoma de Células Renais/patologia , Carcinoma de Células Renais/cirurgia , Tratamento Conservador/efeitos adversos , Tratamento Conservador/métodos , Feminino , Humanos , Neoplasias Renais/mortalidade , Neoplasias Renais/patologia , Neoplasias Renais/cirurgia , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica , Recidiva Local de Neoplasia/diagnóstico , Recidiva Local de Neoplasia/etiologia , Estadiamento de Neoplasias , Nefrectomia/efeitos adversos , Nefrectomia/métodos , Valor Preditivo dos Testes , Prognóstico , Estudos Retrospectivos , Tomografia/métodos , Ultrassonografia/métodos , Adulto Jovem
8.
Arch. esp. urol. (Ed. impr.) ; 73(4): 293-237, mayo 2020. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-192989

RESUMO

INTRODUCCIÓN: El carcinoma de células renales (CCR) en estadio T1 tiene como indicación quirúrgica la nefrectomía parcial (NP). El RENAL Score (RS) es útil para la predicción de complicaciones post quirúrgicas (CP) y recidiva. OBJETIVO: Evaluar a los pacientes que se hayan sometido a una NP e identificar si existe asociación entre el RS y el logro del MIC (márgenes libres tumor, tiempo isquemia menor a 20 minutos, complicaciones quirúrgicas menores). PACIENTES Y MÉTODOS: Cohorte prospectiva y observacional que incluye a las NP laparoscópicas desde marzo de 2017 hasta julio de 2018. Se calculó el RS en las tomografías pre quirúrgicas con contraste endovenoso. RESULTADOS: Se incluyeron 33 pacientes, el 69,7% se clasificó como RS de baja complejidad (RSB), 27,3% RS de media complejidad (RSM) y el 3% RS de alta complejidad. El tiempo quirúrgico medio fue de 146,82 min (DE 34,93), el tiempo medio de isquemia caliente fue de 16,21 min (DE 10,29) y la pérdida hemática estimada de 280,61 ml (DE 217,6). Se halló diferencia en el tiempo quirúrgico entre las medias de RSB y RSM (p = 0,0150), no así en el tiempo de isquemia caliente y pérdida hemática estimada (p = 0,1896 y p = 0,0618). Se alcanzó el MIC en el 66,6% de la muestra. La media de seguimiento fue de 10,32 meses (rango 18-2 meses) no observándose recaídas tumorales ni metástasis. CONCLUSIÓN: La NP laparoscópica en nuestro centro tiene un alcance del MIC similar a las series internacionales, sin tener una asociación directa con el RS


INTRODUCTION: Renal cell carcinoma (RCC) in stage T1a has partial nephrectomy (PN) as a surgical indication. The RENAL Score (RS) is useful for the prediction of post-surgical complications (PC) and recurrence. OBJECTIVE: To evaluate patients who have undergone a PN and to identify if there is an association between the RS and the achievement of the MIC. PATIENTS AND METHODS: Prospective and observational cohort that includes laparoscopic PN from March 2017 to July 2018. The RS was calculated in the pre-surgical CT scan IV contrast. RESULTS: 33 patients were included, 69.7% were classified as low complexity RS (LRS), 27.3% medium complexity RS (MRS) and 3% high complexity RS. The mean surgical time was 146.82 min (SD 34.93), the mean warm ischemia time was 16.21 min (SD 10.29) and the estimated blood loss was 280.61 ml (SD 217.6). We found a difference in the surgical time between the means of LRS and MRS (p = 0.0150), but not in the time of warm ischemia and estimated blood loss (p = 0.1896 and p = 0.0618). The MIC was reached in 66.6% of the sample. The mean follow-up was 10.32 months (range 18-2 months), with no tumor relapse or metastasis. CONCLUSION: The laparoscopic NP in our center has a MIC scope similar to international series, without having a direct association with the RS


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento , Nefrectomia , Procedimentos Cirúrgicos Minimamente Invasivos/estatística & dados numéricos , Índice de Gravidade de Doença , Carcinoma de Células Renais/cirurgia , Argentina , Complicações Pós-Operatórias/prevenção & controle , Estudos Prospectivos , Laparoscopia , Índice de Massa Corporal , Carcinoma de Células Renais/diagnóstico
9.
J Cancer Res Clin Oncol ; 146(7): 1829-1845, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32410064

RESUMO

PURPOSE: The outcome of RCC has improved considerably in the last few years, and the treatment options have increased. LACOG-GU and LARCG held a consensus meeting to develop guidelines to support the clinical decisions of physicians and other health professionals involved in the care of RCC patients. METHODS: Eighty questions addressing relevant advanced RCC treatments were previously formulated by a panel of experts. The voting panel comprised 26 specialists from the LACOG-GU/LARCG. Consensus was determined as 75% agreement. For questions with less than 75% agreement, a new discussion was held, and consensus was determined by the majority of votes after the second voting session. RESULTS: The recommendations were based on the highest level of scientific evidence or by the opinion of the RCC experts when no relevant research data were available. CONCLUSION: This manuscript provides guidance for advanced RCC treatment according to the LACOG-GU/LARCG expert recommendations.


Assuntos
Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/terapia , Neoplasias Renais/diagnóstico , Neoplasias Renais/terapia , Tomada de Decisão Clínica , Terapia Combinada , Procedimentos Cirúrgicos de Citorredução/métodos , Gerenciamento Clínico , Prova Pericial , Humanos , América Latina , Metastasectomia/métodos , Nefrectomia/métodos , Guias de Prática Clínica como Assunto , Padrão de Cuidado
10.
G Ital Nefrol ; 37(2)2020 Apr 09.
Artigo em Italiano | MEDLINE | ID: mdl-32281759

RESUMO

Renal cell carcinoma (RCC) is the deadliest of all urogenital tumors, whereas it is the third for incidence after prostate and bladder cancer. An early diagnosis of RCC allows patients affected to be promptly treated with effective therapies, significantly increasing their survival rate. In addition, an early and accurate diagnosis avoids inadequate treatment, helps predict disease progression and establish the most appropriate treatments. Unfortunately, small renal tumors are usually asymptomatic, which results in a late diagnosis and, therefore, a low efficacy of treatment. Sensitive biomarkers are thus essential for early detection of RCC and for monitoring its progression. This review summarizes recent discoveries relating to renal tumor biomarkers, their diagnostic and prognostic values, and clinical feasibility.


Assuntos
Carcinoma de Células Renais/diagnóstico , Neoplasias Renais/diagnóstico , Biomarcadores Tumorais/análise , Carcinoma de Células Renais/mortalidade , Carcinoma de Células Renais/patologia , Progressão da Doença , Humanos , Neoplasias Renais/mortalidade , Neoplasias Renais/patologia , Prognóstico , Taxa de Sobrevida
11.
DNA Cell Biol ; 39(6): 1000-1011, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32282241

RESUMO

Clear cell renal cell carcinoma (ccRCC) is a highly aggressive disease and ∼30% of the patients are diagnosed at the metastatic stage. Even with new targeted therapies, the average progression-free survival and overall survival (OS) rates are dismal. Thus, biomarkers for early detection and progression could improve disease outcome. The role of C1q/tumor necrosis factor (C1QTNF) family in cancer is an emerging field of research. However, the biological function of C1q/tumor necrosis factor-related protein 6 (C1QTNF6) and its prognostic value in cancer are rarely reported. This study aimed to evaluate C1QTNF6 as a potential diagnostic and prognostic biomarker for ccRCC. In this study, we enrolled 993 ccRCC samples (data from our cohort, The Cancer Genome Atlas, and Gene Expression Omnibus) with C1QTNF6 expression to explore its role and mechanism in ccRCC. The diagnostic power of C1QTNF6 was determined by receiver operating characteristic curve analysis and its prognostic value was evaluated by Kaplan-Meier analysis and Cox regression models, respectively. In addition, the gene set enrichment analysis was performed to unveil the molecular mechanism of C1QTNF6 in ccRCC. We demonstrated that C1QTNF6 was overexpressed in ccRCC, and elevated C1QTNF6 expression correlated with clinical progression. Besides, C1QTNF6 served as a new diagnostic biomarker for renal cell carcinoma. Moreover, C1QTNF6 is an independent risk factor for OS in ccRCC patients. Furthermore, C1QTNF6-related signaling pathways activated in ccRCC are mainly enriched in cell cycle, epithelial-mesenchymal transition, and angiogenesis signaling pathways. Taken together, our results provided insights in understanding the potential role of C1QTNF6 in promoting tumor growth, invasion, and metastasis, and its use as a novel cancer diagnostic and prognostic biomarker for ccRCC.


Assuntos
Biomarcadores Tumorais/metabolismo , Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/metabolismo , Colágeno/metabolismo , Neoplasias Renais/diagnóstico , Neoplasias Renais/metabolismo , Biomarcadores Tumorais/genética , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/patologia , Colágeno/genética , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Neoplasias Renais/genética , Neoplasias Renais/patologia , Masculino , Estadiamento de Neoplasias , Prognóstico , Fatores de Risco , Transdução de Sinais
12.
Gen Dent ; 68(3): 41-44, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32348242

RESUMO

Metastatic disease to the oral cavity is rare. Patients with metastasis to the oral cavity may present with swelling, pain, and paresthesia and require evaluation by providers trained in managing pathoses of the oral cavity and surrounding structures. This report describes the case of a 78-year-old man with painful enlargement of the right posterior mandible that caused paresthesia. An open biopsy procedure resulted in significant blood loss and the need for percutaneous needle biopsy. Immunohistochemical analysis was used to make the diagnosis of metastatic clear cell renal cell carcinoma in this patient, whose primary malignancy was previously unknown. Composite resection of the metastatic lesion and reconstruction were performed with the use of virtual surgical planning, an osteomyocutaneous free tissue transfer, and a custom reconstruction plate. This case highlights the importance of dental professionals in the diagnosis and management of lesions of the head and neck and adds to the literature on metastatic lesions to the region.


Assuntos
Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/cirurgia , Neoplasias Renais , Neoplasias Mandibulares/diagnóstico , Idoso , Biópsia , Humanos , Masculino , Mandíbula/cirurgia
13.
Am J Clin Oncol ; 43(6): 393-398, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32217855

RESUMO

OBJECTIVE: The objective of this study was to perform a meta-analysis of the diagnostic test accuracy of Glasgow Prognostic Score (GPS) as a prognostic factor for renal cell carcinoma (RCC). MATERIALS AND METHODS: Studies were retrieved from PubMed, Cochrane, and Embase databases, and we performed comprehensive searches to identify studies that evaluated the prognostic impact of pretreatment GPS in RCC patients. We assessed sensitivity, specificity, summary receiver operating characteristic curve, and area under the curve (AUC). RESULTS: Totally, studies were searched under the prespecified criteria, and 8 studies with a total of 1191 patients were included to evaluate the prognostic impact of GPS in RCC finally. They indicated a pooled sensitivity of 0.785 (95% confidence interval [CI]: 0.705-0.848), specificity of 0.782 (95% CI: 0.656-0.871), diagnostic odds ratio of 13.089 (95% CI: 7.168-23.899), and AUC of 0.83 (95% CI: 0.79-0.86). Heterogeneity was significant, and meta-regression revealed that the presence of metastasis might be the potential source of heterogeneity. Subgroup analysis also demonstrated that the presence of metastasis might be the source of heterogeneity. CONCLUSION: GPS demonstrated a good diagnostic accuracy as a prognostic factor for RCC and especially in the case of nonmetastatic RCC.


Assuntos
Carcinoma de Células Renais/diagnóstico , Neoplasias Renais/diagnóstico , Humanos , Prognóstico , Reprodutibilidade dos Testes
14.
Cancer Genet ; 243: 1-6, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32179488

RESUMO

Inherited germline mutations in the VHL gene cause predisposition to Von Hippel-Lindau (VHL) disease. Patients exhibit benign and cancerous lesions in multiple tissues, including hemangioblastomas, clear cell renal cell carcinoma, cysts in kidneys and pancreas, and pheochromocytomas. Although pathogenic germline mutations in the VHL gene have been widely described in different populations, only a single mutation was previously reported in a family from mixed Arab-Persian ethnicity. Here, we present five Arab patients with two new and two recurrent germline mutations in the VHL gene. These mutations include three in-frame deletions and a missense mutation. Infrequent in-frame deletions in previously described patients from other populations, as well as the presence of new mutations, suggests a distinct spectrum of VHL gene mutations in Arab patients. While pulmonary manifestation has been described rarely in VHL disease, we have identified two patients with a recurrent p.Phe76del in-frame deletion exhibiting multiple nodules in lungs. We also describe a first-ever in-frame deletion in the VHL gene in a patient with VHL type 2C disease, exhibiting bilateral pheochromocytoma. Overall, the study provides an insight into the genotype-phenotype relationship of VHL disease in Arab patients and provides a comparison with previously described patients from other ethnicities.


Assuntos
Proteína Supressora de Tumor Von Hippel-Lindau/genética , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/genética , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/genética , Glândulas Suprarrenais/diagnóstico por imagem , Adulto , Idoso , Árabes/genética , Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/genética , Neoplasias Cerebelares/diagnóstico , Neoplasias Cerebelares/genética , Cerebelo/diagnóstico por imagem , Pré-Escolar , Análise Mutacional de DNA , Feminino , Mutação em Linhagem Germinativa , Hemangioblastoma/diagnóstico , Hemangioblastoma/genética , Humanos , Rim/diagnóstico por imagem , Neoplasias Renais/diagnóstico , Neoplasias Renais/genética , Pulmão/diagnóstico por imagem , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/genética , Imagem por Ressonância Magnética , Masculino , Anamnese , Pessoa de Meia-Idade , Feocromocitoma/diagnóstico , Feocromocitoma/genética , Arábia Saudita , Tomografia Computadorizada por Raios X , Doença de von Hippel-Lindau/diagnóstico
15.
Curr Urol Rep ; 21(2): 11, 2020 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-32166474

RESUMO

PURPOSE OF REVIEW: Renal cell carcinoma (RCC) is the third most common urologic malignancy. First symptoms are usually unspecific and belated causing the stages to be high when diagnosed. As compensation, incidental detection of RCC by abdominal imaging techniques for other medical purposes is a reality that favours a decrease in the stage of new diagnosed tumours. Therefore, identifying novel predictive biomarkers for diagnosis, progression and prognosis of RCC is fundamental. RECENT FINDINGS: To date, several studies have demonstrated that microRNAs (miRNAs) play a role in the particular scenario of urologic tumors, and alterations at miRNA level are involved in the initiation, progression and metastases formation of renal cancer. In the present review, we have summarized the up­to­date preliminary clinical works on the role of urinary miRNA profiling in RCC, including an evaluation of its value as a potential biomarker for diagnosis, prognosis and follow up of RCC patients.


Assuntos
Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/urina , Neoplasias Renais/diagnóstico , Neoplasias Renais/urina , MicroRNAs/urina , Biomarcadores Tumorais/urina , Progressão da Doença , Humanos , Prognóstico
16.
J Korean Med Sci ; 35(5): e31, 2020 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-32030920

RESUMO

BACKGROUND: Mechanism and predictive biomarkers for tyrosine kinase inhibitor (TKI) resistance of advanced clear cell renal cell carcinoma (ccRCC) have not been fully evaluated. METHODS: We performed gene expression profiling on samples from an acquired TKI resistance cohort that consisted of 10 cases of TKI-treated ccRCC patients with matched tumor tissues harvested at pre-treatment and TKI-resistant post-treatment periods. In addition, a public microarray dataset from patient-derived xenograft model for TKI-treated ccRCC (GSE76068) was retrieved. Commonly altered pathways between the datasets were investigated by Ingenuity Pathway Analysis using commonly regulated differently expressed genes (DEGs). The significance of candidate DEG on intrinsic TKI resistance was assessed through immunohistochemistry in a separate cohort of 101 TKI-treated ccRCC cases. RESULTS: TNFRSF1A gene expression and tumor necrosis factor (TNF)-α pathway were upregulated in ccRCCs with acquired TKI resistance in both microarray datasets. Also, high expression (> 10% of labeled tumor cells) of TNF receptor 1 (TNFR1), the protein product of TNFRSF1A gene, was correlated with sarcomatoid dedifferentiation and was an independent predictive factor of clinically unfavorable response and shorter survivals in separated TKI-treated ccRCC cohort. CONCLUSION: TNF-α signaling may play a role in TKI resistance, and TNFR1 expression may serve as a predictive biomarker for clinically unfavorable TKI responses in ccRCC.


Assuntos
Biomarcadores Tumorais , Carcinoma de Células Renais , Resistencia a Medicamentos Antineoplásicos , Neoplasias Renais , Inibidores de Proteínas Quinases , Receptores Tipo I de Fatores de Necrose Tumoral , Transdução de Sinais , Fator de Necrose Tumoral alfa , Adulto , Biomarcadores Tumorais/metabolismo , Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/metabolismo , Carcinoma de Células Renais/terapia , Feminino , Humanos , Imuno-Histoquímica , Neoplasias Renais/diagnóstico , Neoplasias Renais/metabolismo , Neoplasias Renais/terapia , Masculino , Pessoa de Meia-Idade , Prognóstico , Inibidores de Proteínas Quinases/farmacologia , Inibidores de Proteínas Quinases/uso terapêutico , Receptores Tipo I de Fatores de Necrose Tumoral/metabolismo , Análise de Sobrevida , Resultado do Tratamento , Fator de Necrose Tumoral alfa/metabolismo
17.
AJR Am J Roentgenol ; 214(4): 817-824, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32045306

RESUMO

OBJECTIVE. The purpose of this study is to evaluate the diagnostic value of in vivo MR spectroscopy (MRS) with semilocalization by adiabatic selective refocusing (semi-LASER MRS) in differentiating clear cell renal cell carcinoma (RCC) from the non-clear cell subtype. SUBJECTS AND METHODS. Sixteen patients with biopsy-proven RCC or masses highly suspicious for RCC were prospectively recruited to participate in the study. Single-voxel 1H spectra were acquired using a 3-T MRI system, with a semi-LASER sequence acquired for renal tumors in 14 patients and for healthy renal tissue (control tissue) in 12 patients. Offline processing of the MR spectra was performed. MRI and spectra analysis were performed independently by radiologists who were blinded to the reference histopathologic findings. RESULTS. Semi-LASER MRS was diagnostic for nine of 11 patients (82%) with histopathologically proven clear cell RCC, showing a strong lipid peak in seven patients and a weaker lipid resonance in two others, whereas control spectra showed weakly positive findings in only one patient. MRS findings were negative for lipid resonance in two of three patients (67%) with non-clear cell tumors and were weakly positive in another patient. Semi-LASER MRS had a high sensitivity and positive predictive value of 82% and 90%, respectively, in addition to a specificity of 67%, a negative predictive value of 50%, and overall accuracy of 79% for the detection of clear cell RCC. Lipid resonance was detected by MRS for four of six clear cell RCCs with no intravoxel fat on chemical-shift MRI. CONCLUSION. The preliminary results of the present study show that semi-LASER MRS is promising for the noninvasive discrimination of clear cell RCC from non-clear cell RCC on the basis of detection of lipid resonance and that it provides an incremental yield compared with chemical-shift MRI.


Assuntos
Carcinoma de Células Renais/diagnóstico , Neoplasias Renais/diagnóstico , Espectroscopia de Ressonância Magnética/métodos , Idoso , Idoso de 80 Anos ou mais , Biópsia , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Prospectivos , Sensibilidade e Especificidade
18.
Bull Cancer ; 107(2): 272-280, 2020 Feb.
Artigo em Francês | MEDLINE | ID: mdl-32044098

RESUMO

MiT family translocation renal cell carcinomas (tRCC) represent a rare subtype of renal cell carcinomas. These tumors have been introduced for the first time in the World Health Classification (WHO) classification of kidney cancers in 2004. tRCC are characterized by reccurent translocations involving members of the MiT family transcription factors, mainly TFE3 and TFEB. The estimated incidence of these tumors is ∼1-5 % among all renal cell carcinomas, with female prodominance. tRCC were initially described in children, and the spectrum has been expanded over time to encompass adolescents and adults. TFE3- and TFEB-rearranged RCC harbor characteristic clinicopathological and immunohistochemical features and fluorescent hybridization in situ is considered the gold standard for their diagnosis, although it has some limitations especially when the partners are located in the vicinity of TFE3. Nephron-sparing surgery is an efficient treatment of localized cases when achievable. In metastatic setting, targeted agents and immunotherapy showed modest efficacy, with response rates and median overall survival inferior to those observed in clear-cell renal cell carcinomas. Management of tRCC necessite a multidisciplinary team and accrual in clinical trials have to be encouraged when possible. Novel biological insights are urgently awaited to better understand the mechanisms associated with kidney oncogenesis in this setting, and ultimately help to identify therapeutic targets.


Assuntos
Adenocarcinoma de Células Claras , Carcinoma de Células Renais , Neoplasias Renais , Translocação Genética , Adenocarcinoma de Células Claras/diagnóstico , Adenocarcinoma de Células Claras/genética , Adenocarcinoma de Células Claras/terapia , Adolescente , Adulto , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/genética , Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/terapia , Criança , Feminino , Humanos , Neoplasias Renais/diagnóstico , Neoplasias Renais/genética , Neoplasias Renais/terapia , Masculino , Fator de Transcrição Associado à Microftalmia/genética
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA