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1.
Hinyokika Kiyo ; 66(9): 303-306, 2020 Sep.
Artigo em Japonês | MEDLINE | ID: mdl-32988167

RESUMO

A 56-year-old woman presented with left flank pain. Computed tomography revealed hydronephrosis and a 35 mm mass in the left renal pelvis. Ureteroscopy revealed a white elevated lesion in the left renal pelvis. Tissue biopsy was performed and the histological findings showed no evidence of malignancy. Urine cytology was class III. Based on these results, we could not completely rule out malignancy. Left retroperitoneoscopic nephroureterectomy was performed and a pedunculated white mass was found in the renal pelvis. The pathological diagnosis was a fibroepithelial polyp of the renal pelvis. Fibroepithelial polyps in the urinary tract are relatively rare, and those in the renal pelvis even more so. When the preoperative diagnosis shows no malignant findings, fibroepithelial polyps should be considered as a differential diagnosis.


Assuntos
Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/diagnóstico , Neoplasias Renais/cirurgia , Pólipos/diagnóstico por imagem , Pólipos/diagnóstico , Pólipos/cirurgia , Neoplasias Cutâneas , Feminino , Humanos , Pelve Renal/diagnóstico por imagem , Pelve Renal/cirurgia , Pessoa de Meia-Idade , Ureteroscopia
2.
BMC Bioinformatics ; 21(1): 374, 2020 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-32859146

RESUMO

BACKGROUND: In this era of data science-driven bioinformatics, machine learning research has focused on feature selection as users want more interpretation and post-hoc analyses for biomarker detection. However, when there are more features (i.e., transcripts) than samples (i.e., mice or human samples) in a study, it poses major statistical challenges in biomarker detection tasks as traditional statistical techniques are underpowered in high dimension. Second and third order interactions of these features pose a substantial combinatoric dimensional challenge. In computational biology, random forest (RF) classifiers are widely used due to their flexibility, powerful performance, their ability to rank features, and their robustness to the "P > > N" high-dimensional limitation that many matrix regression algorithms face. We propose binomialRF, a feature selection technique in RFs that provides an alternative interpretation for features using a correlated binomial distribution and scales efficiently to analyze multiway interactions. RESULTS: In both simulations and validation studies using datasets from the TCGA and UCI repositories, binomialRF showed computational gains (up to 5 to 300 times faster) while maintaining competitive variable precision and recall in identifying biomarkers' main effects and interactions. In two clinical studies, the binomialRF algorithm prioritizes previously-published relevant pathological molecular mechanisms (features) with high classification precision and recall using features alone, as well as with their statistical interactions alone. CONCLUSION: binomialRF extends upon previous methods for identifying interpretable features in RFs and brings them together under a correlated binomial distribution to create an efficient hypothesis testing algorithm that identifies biomarkers' main effects and interactions. Preliminary results in simulations demonstrate computational gains while retaining competitive model selection and classification accuracies. Future work will extend this framework to incorporate ontologies that provide pathway-level feature selection from gene expression input data.


Assuntos
Algoritmos , Biomarcadores/metabolismo , Biomarcadores Tumorais/metabolismo , Neoplasias da Mama/diagnóstico , Biologia Computacional/métodos , Feminino , Humanos , Neoplasias Renais/diagnóstico
3.
Bull Cancer ; 107(5S): S56-S65, 2020 Jun.
Artigo em Francês | MEDLINE | ID: mdl-32620208

RESUMO

Non-clear cell renal cell carcinomas (nccRCC) account for nearly 25% of all kidney cancers, and represent a group of highly heterogeneous tumors both in terms of histological varieties and also oncogenic biological abnormalities. The clinical presentation as well as the prognosis of the patients is also very variable. Given the rarity of each tumor entity, there are very few clinical trials that have focused on a well-defined variety of non-clear cell cancer. So, it is difficult to interpret these studies, and therefore to develop clear recommendations for medical management of advanced disease. In this article, the main clinico-biological characteristics, as well as a summary of the clinical results obtained in patients with nccRCC cancer, except surgery, will be presented.


Assuntos
Neoplasias Renais/diagnóstico , Neoplasias Renais/tratamento farmacológico , Humanos
4.
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
5.
Arch Esp Urol ; 73(5): 384-389, 2020 Jun.
Artigo em Espanhol | MEDLINE | ID: mdl-32538808

RESUMO

INTRODUCTION: First cases of COVID-19 were reported in China on December 2019 and rapidly spread globally. The explosive increase in number of cases requiring hospitalization has led to a delay in a big number of surgical interventions, including oncologic surgeries. Collateral effects of this increase means a challenge for urologists, who have been forced to redistribute their resources. Due to its poor pronostic, patients suffering from by upper tract urinary tumours will be negatively affected by this pandemic. METHODS: A non sistematic review was performed using literature published until May 23, 2020, using "Uppertract urothelial tumours", "COVID-19" and "nephroureterectomy".as keywords. The resulting manuscript was critically revised by national authors in order to establish common criteria about treatment and follow up. EVIDENCE SYNTHESIS: Four studies were identified that assessed the impact of delaying radical nephrouretrectomy as curative treatment. These studies showed that surgery delays decrease overall survival and cancer specific survival rates in high-risk groups. On the other hand, delaying radical nephrouretrectomy due to ureteroscopy did not affect survival in cohorts of patients with predominately low-grade disease. CONCLUSIONS: A delay in curative treatment of upper tract urothelial tumours for more than three months results in adverse outcomes as overal survival and cancer specific survival. Hence, it is important to prioritize the timely care of this group of patients as far as COVID-19 pandemic allows it.


Assuntos
Carcinoma de Células de Transição , Infecções por Coronavirus , Neoplasias Renais , Pandemias , Pneumonia Viral , Ureter , Neoplasias Ureterais , Betacoronavirus , Carcinoma de Células de Transição/diagnóstico , Carcinoma de Células de Transição/terapia , Infecções por Coronavirus/epidemiologia , Humanos , Neoplasias Renais/diagnóstico , Neoplasias Renais/terapia , Nefrectomia , Pneumonia Viral/epidemiologia , Estudos Retrospectivos
6.
Arch. esp. urol. (Ed. impr.) ; 73(5): 360-366, jun. 2020. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-189692

RESUMO

La pandemia COVID-19 causada por el virus SARS-CoV-2 ha provocado un importante impacto sanitario que ha afectado, entre otras áreas de la urología, al manejo del cáncer renal, tanto en su ámbito diagnóstico como de tratamiento. La elevada suspensión de intervenciones quirúrgicas, incluidas aquellas destinadas al tratamiento de esta patología, ocasionará una inevitable sobrecarga asistencial y quizá un potencial efecto deletéreo sobre sus resultados oncológicos, en especial en el cáncer renal localmente avanzado y en el metastásico. Los escenarios clínicos del carcinoma de células renales son bien distintos en función de su estadiaje, distinguiendo principalmente entre la baja prioridad de la enfermedad localizada o la alta prioridad del localmente avanzado y el metastásico en tratamiento activo. La duraciónin determinada y prevalencia posiblemente oscilante de la pandemia previsiblemente obligue a adaptar el manejo del cáncer renal en los servicios de urología y oncología, debiendo ser idealmente invidualizados según cada caso en el seno de unidades multidisciplinares. Para ello, se presentan algoritmos y tablas de manejo del cáncer renal adaptadas al periodo COVID-19 y estratificados según el estadio de la enfermedad, que puedan ser de utilidad para los especialistas dedicados a esta área de la uro-oncología


The COVID-19 pandemic caused by SARS-CoV-2 virus has caused an important health impact that has affected renal cell carcinoma management, among other urology areas. The high cancellation rate of surgeries, including those related to renal cancer, will cause an inevitable healthcare overload and probably a potential negative impact on its oncological outcomes, especially in locally advanced and metastatic renal cancer. Kidney cancer scenarios are quite different depending on their stage, distinguishing mainly between low priority of localized disease or high priority of locally advanced and metastatic under active treatment. The unknown pandemic duration and possibly fluctuating prevalence of the virus are likely to force an adaptation in the management of renal cell carcinoma among urology and oncology departments, ideally individualized on a case-by-case basis within multidisciplinary units. To this end, we present algorithms and tables regarding renal cell carcinoma management adapted to the COVID-19 period and stratified according to oncological stage, which might be useful for specialists dedicated to this uro-oncology area


Assuntos
Humanos , Neoplasias Renais/terapia , Neoplasias Renais/diagnóstico , Administração Hospitalar , Infecções por Coronavirus/prevenção & controle , Pneumonia Viral/prevenção & controle , Pandemias , Prioridades em Saúde/organização & administração , Telemedicina , Seguimentos
7.
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
8.
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
9.
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
10.
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
11.
Am J Surg Pathol ; 44(7): e47-e65, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32251007

RESUMO

Renal cell carcinoma (RCC) subtypes are increasingly being discerned via their molecular underpinnings. Frequently this can be correlated to histologic and immunohistochemical surrogates, such that only simple targeted molecular assays, or none at all, are needed for diagnostic confirmation. In clear cell RCC, VHL mutation and 3p loss are well known; however, other genes with emerging important roles include SETD2, BAP1, and PBRM1, among others. Papillary RCC type 2 is now known to include likely several different molecular entities, such as fumarate hydratase (FH) deficient RCC. In MIT family translocation RCC, an increasing number of gene fusions are now described. Some TFE3 fusion partners, such as NONO, GRIPAP1, RBMX, and RBM10 may show a deceptive fluorescence in situ hybridization result due to the proximity of the genes on the same chromosome. FH and succinate dehydrogenase deficient RCC have implications for patient counseling due to heritable syndromes and the aggressiveness of FH-deficient RCC. Immunohistochemistry is increasingly available and helpful for recognizing both. Emerging tumor types with strong evidence for distinct diagnostic entities include eosinophilic solid and cystic RCC and TFEB/VEGFA/6p21 amplified RCC. Other emerging entities that are less clearly understood include TCEB1 mutated RCC, RCC with ALK rearrangement, renal neoplasms with mutations of TSC2 or MTOR, and RCC with fibromuscular stroma. In metastatic RCC, the role of molecular studies is not entirely defined at present, although there may be an increasing role for genomic analysis related to specific therapy pathways, such as for tyrosine kinase or MTOR inhibitors.


Assuntos
Biomarcadores Tumorais , Carcinoma de Células Renais/diagnóstico , Neoplasias Renais/diagnóstico , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/metabolismo , Carcinoma de Células Renais/patologia , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Neoplasias Renais/genética , Neoplasias Renais/metabolismo , Neoplasias Renais/patologia , Mutação , Metástase Neoplásica , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/metabolismo , Síndromes Neoplásicas Hereditárias/patologia , Patologia Clínica , Patologia Molecular , Prognóstico , Sociedades Médicas , Urologia
12.
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
13.
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
14.
J Pathol ; 250(5): 693-704, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32125696

RESUMO

Cells represent the basic building blocks of living organisms. Accurate characterisation of cellular phenotype, intercellular signalling networks, and the spatial organisation of cells within organs is crucial to deliver a better understanding of the processes underpinning physiology, and the perturbations that lead to disease. Single-cell methodologies have increased rapidly in scale and scope in recent years and are set to generate important insights into human disease. Here, we review current practices in nephropathology, which are dominated by relatively simple morphological descriptions of tissue biopsies based on their appearance using light microscopy. Bulk transcriptomics have more recently been used to explore glomerular and tubulointerstitial kidney disease, renal cancer, and the responses to injury and alloimmunity in kidney transplantation, generating novel disease insights and prognostic biomarkers. These studies set the stage for single-cell transcriptomic approaches that reveal cell-type-specific gene expression patterns in health and disease. These technologies allow genome-wide disease susceptibility genes to be interpreted with the knowledge of the specific cell populations within organs that express them, identifying candidate cell types for further study. Single-cell technologies are also moving beyond assaying individual cellular transcriptomes, to measuring the epigenetic landscape of single cells. Single-cell antigen-receptor gene sequencing also enables specific T- and B-cell clones to be tracked in different tissues and disease states. In the coming years these rich 'multi-omic' descriptions of kidney disease will enable histopathological descriptions to be comprehensively integrated with molecular phenotypes, enabling better disease classification and prognostication and the application of personalised treatment strategies. © 2020 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland.


Assuntos
Biomarcadores Tumorais/genética , Regulação Neoplásica da Expressão Gênica , Neoplasias Renais/genética , Neoplasias Renais/patologia , Genoma , Humanos , Neoplasias Renais/diagnóstico , Fenótipo , Transcriptoma/fisiologia
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.
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
17.
Am J Surg Pathol ; 44(7): 901-916, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32217839

RESUMO

We report 8 cases of a distinctive, previously undescribed renal cell carcinoma associated with somatic mutations in the neurofibromin 2 (NF2) gene. All patients were adults, ranging from 51 to 78 years of age and of cases of known sex 6 of 7 were males. The carcinomas were predominantly unencapsulated, and all had a rounded, nodular interface with the native kidney. The neoplasms were all solid with papillary architecture evident in most cases (7/8), while 1 was only tubular. All cases were biphasic, characterized by larger and smaller carcinoma cells. The smaller cells clustered around basement membrane material similar to the characteristic pattern of the t(6;11) renal cell carcinoma associated with TFEB gene fusions. In 6 of 8 carcinomas, branching nodules of small cells clustered around basement membrane material within larger acini yielding a distinctive glomeruloid pattern. In 6 of 8 carcinomas, the small cells were focally spindle-shaped and unassociated with the basement membrane material. The stroma was sclerotic in all 8 carcinomas, and all 8 contained psammoma bodies that were abundant in 2. In some carcinomas, focal or predominant areas had a less distinctive appearance; 2 had areas that resembled clear cell renal cell carcinoma, 2 had high-grade eosinophilic areas, while 1 had branching tubular architecture that resembled mucinous tubular and spindle cell carcinoma. Two carcinomas demonstrated cellular necrosis. Although we have minimal clinical follow-up, 1 case presented with distant metastasis, progressed and resulted in patient death. While NF2 mutations may be found in other established renal cell carcinoma subtypes (often as secondary genetic alterations), they are potentially the genetic driver of this distinctive entity.


Assuntos
Biomarcadores Tumorais/genética , Carcinoma de Células Renais/patologia , Genes da Neurofibromatose 2 , Neoplasias Renais/patologia , Mutação , Idoso , Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/genética , Análise Mutacional de DNA , Evolução Fatal , Feminino , Humanos , Neoplasias Renais/diagnóstico , Neoplasias Renais/genética , Masculino , Pessoa de Meia-Idade
18.
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
20.
Arch Pathol Lab Med ; 144(3): 305-319, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32101056

RESUMO

CONTEXT.­: The 8th edition of the American Joint Committee on Cancer (AJCC) staging manual changed the tumor, node, metastasis (TNM) classification systems of genitourinary malignancies in 2017. However, some of the changes appear not well appreciated or recognized by practicing pathologists. OBJECTIVE.­: To review the major changes compared with the 7th edition in cancers of the prostate, penis, testis, bladder, urethra, renal pelvis/ureter, and kidney and discuss the challenges that pathologists may encounter. DATA SOURCES.­: Peer-reviewed publications and the 8th and 7th editions of the AJCC Cancer Staging Manual. CONCLUSIONS.­: This article summarizes the updated staging of genitourinary malignancies, specifically highlighting changes from the 7th edition that are relevant to the pathologic staging system. Pathologists should be aware of the updates made in hopes of providing clarification and the remaining diagnostic challenges associated with these changes.


Assuntos
Neoplasias Renais/patologia , Estadiamento de Neoplasias/métodos , Neoplasias da Próstata/patologia , Neoplasias Uretrais/patologia , Neoplasias da Bexiga Urinária/patologia , Neoplasias Urogenitais/patologia , Feminino , Humanos , Neoplasias Renais/diagnóstico , Metástase Linfática , Masculino , Neoplasias da Próstata/diagnóstico , Neoplasias Uretrais/diagnóstico , Neoplasias da Bexiga Urinária/diagnóstico , Neoplasias Urogenitais/diagnóstico
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