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1.
Sci Rep ; 14(1): 22775, 2024 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-39353993

RESUMEN

Renal clear cell carcinoma (ccRCC) is a common parenchymal tumor of the kidney, and the discovery of biomarkers for early and effective diagnosis of ccRCC can improve the early diagnosis of patients and thus improve long-term survival. Erb-b2 receptor tyrosine kinase 2 (ERBB2) mediates the processes of cell proliferation, differentiation, and apoptosis inhibition. The purpose of this study was to investigate the diagnostic and prognostic role of ERBB2 in ccRCC. We analyzed the expression levels of ERBB2 in various cancers from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) databases. RNA-seq data were analyzed using R packages to identify differentially expressed genes between the high and low ERBB2 expression groups in the TCGA-KIRC dataset. Spearman correlation analysis was performed to determine the correlation between ERBB2 expression and immune cell infiltration, immune checkpoint expression, and PTEN expression. DNA methylation changes and genetic alterations in ERBB2 were assessed using the MethSurv and cBioPortal databases. Logistic regression analysis was performed to determine the correlation between ERBB2 expression and the clinicopathological characteristics of ccRCC patients. The diagnostic and prognostic value of ERBB2 was assessed using Kaplan‒Meier (K‒M) survival curves, diagnostic ROC curves, time-dependent ROC curves, nomogram models, and Cox regression models. The expression level of ERBB2 is lower in tumor tissues of ccRCC patients than in the corresponding control tissues. Differentially expressed genes associated with ERBB2 were significantly enriched in the pathways "BMP2WNT4FOXO1 pathway in primary endometrial stromal cell differentiation" and "AMAN pathway". In ccRCC tissues, ERBB2 expression levels were associated with immune cell infiltration, immune checkpoints, and PTEN. The DNA methylation status of 10 CpG islands in the ERBB2 gene was associated with the prognosis of ccRCC. ERBB2 expression levels in ccRCC tissues were associated with race, sex, T stage, M stage, histological grade, and pathological stage. Cox regression analysis showed that ERBB2 was a potential independent predictor of overall survival (OS), disease-specific survival (DSS), and progression-free interval (PFI) in ccRCC patients. ROC curve analysis showed that the expression level of ERBB2 could accurately distinguish between ccRCC tissue and adjacent normal renal tissue. Our study showed that ERBB2 expression in ccRCC tissues can be of clinical importance as a potential diagnostic and prognostic biomarker.


Asunto(s)
Biomarcadores de Tumor , Carcinoma de Células Renales , Regulación Neoplásica de la Expresión Génica , Neoplasias Renales , Receptor ErbB-2 , Humanos , Carcinoma de Células Renales/genética , Carcinoma de Células Renales/diagnóstico , Carcinoma de Células Renales/metabolismo , Carcinoma de Células Renales/patología , Carcinoma de Células Renales/mortalidad , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/metabolismo , Receptor ErbB-2/metabolismo , Receptor ErbB-2/genética , Neoplasias Renales/genética , Neoplasias Renales/diagnóstico , Neoplasias Renales/patología , Neoplasias Renales/metabolismo , Neoplasias Renales/mortalidad , Pronóstico , Femenino , Masculino , Metilación de ADN , Persona de Mediana Edad , Estimación de Kaplan-Meier , Anciano , Curva ROC
2.
BMC Nephrol ; 25(1): 329, 2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-39354434

RESUMEN

BACKGROUND: Birt-Hogg-Dube (BHD) syndrome is a rare genetic condition associated with the development of renal tumors. This study aims to determine typical age ranges for detecting renal abnormalities, risk factors for tumor development, and long-term outcomes based on current surveillance strategies. METHODS: A single-center multi-site retrospective cohort study was performed on all patients with BHD diagnosed from 2000 to 2023. Baseline demographics, pulmonary function, laboratory, radiologic, and histopathologic findings were collected. Logistic regression was used to assess predictor variables for the development of renal tumors with survival analysis evaluated from the date of BHD diagnosis to date of death or last known follow-up. RESULTS: The study included 149 patients with BHD, 39 (26%) with diagnosed renal tumors, of which 28 had histopathologic confirmation. Mean age at renal tumor detection was 53.61 years. Older age and male sex were predictive of renal tumor development ((odds ratio 1.05; 95% CI, 1.01-1.08, P = 0.002) and (odds ratio 2.59; 95% CI, 1.17-5.73, P = 0.02), respectively). Time to all-cause mortality appeared shorter in those with renal tumors (Log-rank P = 0.02), though no deaths were from cancer or cancer-related complications. CONCLUSIONS: Current screening protocols for renal tumors in BHD suggest the most common presenting age range for presentation is late 40s to early 50s, with older age and male sex as risk factors for tumor development.


Asunto(s)
Síndrome de Birt-Hogg-Dubé , Neoplasias Renales , Humanos , Neoplasias Renales/diagnóstico , Masculino , Persona de Mediana Edad , Femenino , Estudios Retrospectivos , Factores de Riesgo , Síndrome de Birt-Hogg-Dubé/complicaciones , Síndrome de Birt-Hogg-Dubé/genética , Síndrome de Birt-Hogg-Dubé/diagnóstico , Adulto , Anciano , Factores de Edad , Estudios de Cohortes , Factores Sexuales
3.
Folia Med (Plovdiv) ; 66(3): 303-311, 2024 Jun 30.
Artículo en Inglés | MEDLINE | ID: mdl-39365615

RESUMEN

The ongoing growth of artificial intelligence (AI) involves virtually every aspect of oncologic care in medicine. Although AI is in its infancy, it has shown great promise in the diagnosis of oncologic urological conditions. This paper aims to explore the expanding role of artificial intelligence in the histopathological diagnosis in urological oncology. We conducted a focused review of the literature on AI in urological oncology, searching PubMed and Google Scholar for recent advancements in histopathological diagnosis using AI. Various keyword combinations were used to find relevant sources published before April 2nd, 2024. We approached this article by focusing on the impact of AI on common urological malignancies by incorporating the use of different AI algorithms. We targeted the capabilities of AI's potential in aiding urologists and pathologists in histological cancer diagnosis. Promising results suggest AI can enhance diagnosis and personalized patient care, yet further refinements are needed before widespread hospital adoption. AI is transforming urological oncology by improving histopathological diagnosis and patient care. This review highlights AI's advancements in diagnosing prostate, renal cell, and bladder cancer. It is anticipated that as AI becomes more integrated into clinical practice, it will have a greater influence on diagnosis and improve patient outcomes.


Asunto(s)
Inteligencia Artificial , Neoplasias Urológicas , Humanos , Neoplasias Urológicas/patología , Neoplasias Urológicas/diagnóstico , Neoplasias de la Vejiga Urinaria/patología , Neoplasias de la Vejiga Urinaria/diagnóstico , Neoplasias de la Próstata/patología , Neoplasias de la Próstata/diagnóstico , Neoplasias Renales/patología , Neoplasias Renales/diagnóstico , Masculino , Algoritmos , Carcinoma de Células Renales/patología , Carcinoma de Células Renales/diagnóstico
4.
Technol Cancer Res Treat ; 23: 15330338241284845, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39380441

RESUMEN

BACKGROUND: The intricate task of diagnosing and managing small renal masses (SRMs) has become progressively convoluted within the realm of clinical practice. Contemporary clinical prediction instruments may succumb to a gradual decay in precision, coupled with an absence of unambiguous guidelines to navigate patient management. METHODS: This investigation was devised to formulate and authenticate nomograms for the overall survival (OS) and cancer- specific survival (CSS) among patients afflicted with SRMs. The study encompassed a cohort of 2558 pediatric patients diagnosed with SRMs over the period of 2000 to 2019. Independent prognostic indicators for OS and CSS, encompassing historical staging, chemotherapy regimens, surgical interventions, and pathological classifications, were ascertained through the employment of multivariate Cox proportional hazards regression analysis and backward stepwise selection. RESULTS: Through the utilization of multivariate Cox regression models, nomograms for OS and CSS were meticulously crafted, demonstrating commendable discrimination and calibration within the training set (OS C-index: 0.762, CSS C-index: 0.779). The validation set further corroborated the exemplary discrimination and calibration of the nomograms. Moreover, these nomograms adeptly differentiated between patient groups at elevated and diminished risk levels. CONCLUSION: The nomograms delineated in this research provide propitious predictive accuracy for overall survival and cancer-specific survival in patients suffering from pediatric SRMs, thereby contributing to refined risk stratification and steering the optimal therapeutic course of action. The necessity for supplementary validation prevails before the translation of these findings into clinical practice.


Asunto(s)
Neoplasias Renales , Nomogramas , Humanos , Masculino , Femenino , Neoplasias Renales/mortalidad , Neoplasias Renales/patología , Neoplasias Renales/terapia , Neoplasias Renales/diagnóstico , Niño , Pronóstico , Adolescente , Preescolar , Modelos de Riesgos Proporcionales , Estudios de Cohortes , Estadificación de Neoplasias , Lactante , Tasa de Supervivencia
5.
BMJ Case Rep ; 17(9)2024 Sep 30.
Artículo en Inglés | MEDLINE | ID: mdl-39349300

RESUMEN

Retroperitoneal neuroendocrine tumours are exceptionally rare. The excision of tumours located in the renal hilum near the renal vessels can be challenging. We report a case of a paraganglioma located at the renal hilum which was excised successfully in a child who presented with abdominal pain, breathlessness, left varicocele and hypertension.


Asunto(s)
Neoplasias Renales , Paraganglioma , Humanos , Neoplasias Renales/cirugía , Neoplasias Renales/diagnóstico , Neoplasias Renales/diagnóstico por imagen , Paraganglioma/cirugía , Paraganglioma/diagnóstico por imagen , Paraganglioma/diagnóstico , Paraganglioma/complicaciones , Masculino , Niño , Dolor Abdominal/etiología , Tomografía Computarizada por Rayos X , Hipertensión , Varicocele/cirugía , Varicocele/diagnóstico
6.
Int J Mol Sci ; 25(18)2024 Sep 11.
Artículo en Inglés | MEDLINE | ID: mdl-39337322

RESUMEN

Renal cell carcinoma (RCC) is the sixth most common cancer in men and is often asymptomatic, leading to incidental detection in advanced disease stages that are associated with aggressive histology and poorer outcomes. Various cancer biomarkers are found in urine samples from patients with RCC. In this study, we propose to investigate the use of Attenuated Total Reflection-Fourier Transform Infrared Spectroscopy (ATR-FTIR) on dried urine samples for distinguishing RCC. We analyzed dried urine samples from 49 patients with RCC, confirmed by histopathology, and 39 healthy donors using ATR-FTIR spectroscopy. The vibrational bands of the dried urine were identified by comparing them with spectra from dried artificial urine, individual urine components, and dried artificial urine spiked with urine components. Urea dominated all spectra, but smaller intensity peaks, corresponding to creatinine, phosphate, and uric acid, were also identified. Statistically significant differences between the FTIR spectra of the two groups were obtained only for creatinine, with lower intensities for RCC cases. The discrimination of RCC was performed through Principal Component Analysis combined with Linear Discriminant Analysis (PCA-LDA) and Support Vector Machine (SVM). Using PCA-LDA, we achieved a higher discrimination accuracy (82%) (using only six Principal Components to avoid overfitting), as compared to SVM (76%). Our results demonstrate the potential of urine ATR-FTIR combined with machine learning techniques for RCC discrimination. However, further studies, especially of other urological diseases, must validate this approach.


Asunto(s)
Carcinoma de Células Renales , Neoplasias Renales , Aprendizaje Automático , Humanos , Espectroscopía Infrarroja por Transformada de Fourier/métodos , Masculino , Carcinoma de Células Renales/orina , Carcinoma de Células Renales/diagnóstico , Femenino , Neoplasias Renales/orina , Neoplasias Renales/diagnóstico , Persona de Mediana Edad , Anciano , Análisis de Componente Principal , Adulto , Análisis Discriminante , Biomarcadores de Tumor/orina , Máquina de Vectores de Soporte , Creatinina/orina , Urinálisis/métodos
7.
J Med Case Rep ; 18(1): 425, 2024 Sep 12.
Artículo en Inglés | MEDLINE | ID: mdl-39261965

RESUMEN

BACKGROUND: Renal epithelioid angiomyolipoma is a rare and unique subtype of classic angiomyolipoma, characterized by the presence of epithelioid cells. It often presents with nonspecific symptoms and can be easily misdiagnosed due to its similarity to renal cell carcinoma and classic angiomyolipoma in clinical and radiological features. This case report is significant for its demonstration of the challenges in diagnosing epithelioid angiomyolipoma and its emphasis on the importance of accurate differentiation from renal cell carcinoma and classic angiomyolipoma. CASE PRESENTATION: A 58-year-old Asian female presented with sudden left flank pain and was initially diagnosed with a malignant renal tumor based on imaging studies. She underwent laparoscopic radical nephrectomy, and postoperative histopathology confirmed the diagnosis of epithelioid angiomyolipoma. The patient recovered well and is currently in good health with regular follow-ups. This case highlights the diagnostic challenges, with a focus on the clinical, radiological, and histopathological features that eventually led to the identification of epithelioid angiomyolipoma. CONCLUSIONS: Epithelioid angiomyolipoma is easily misdiagnosed in clinical work. When dealing with these patients, it is necessary to make a comprehensive diagnosis based on clinical symptoms, imaging manifestations, and pathological characteristics.


Asunto(s)
Angiomiolipoma , Carcinoma de Células Renales , Errores Diagnósticos , Neoplasias Renales , Nefrectomía , Humanos , Femenino , Angiomiolipoma/diagnóstico , Angiomiolipoma/patología , Angiomiolipoma/diagnóstico por imagen , Persona de Mediana Edad , Neoplasias Renales/diagnóstico , Neoplasias Renales/patología , Neoplasias Renales/cirugía , Rotura Espontánea , Carcinoma de Células Renales/diagnóstico , Carcinoma de Células Renales/patología , Carcinoma de Células Renales/cirugía , Carcinoma de Células Renales/diagnóstico por imagen , Hemorragia , Tomografía Computarizada por Rayos X , Diagnóstico Diferencial , Dolor en el Flanco/etiología , Laparoscopía
9.
PLoS One ; 19(9): e0310843, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39348357

RESUMEN

Clear cell renal cell carcinoma (ccRCC) is the most prevalent subtype of kidney cancer. Although there is increasing evidence linking ccRCC to genetic alterations, the exact molecular mechanism behind this relationship is not yet completely known to the researchers. Though drug therapies are the best choice after the metastasis, unfortunately, the majority of the patients progressively develop resistance against the therapeutic drugs after receiving it for almost 2 years. In this case, multi-targeted different variants of therapeutic drugs are essential for effective treatment against ccRCC. To understand molecular mechanisms of ccRCC development and progression, and explore multi-targeted different variants of therapeutic drugs, it is essential to identify ccRCC-causing key genes (KGs). In order to obtain ccRCC-causing KGs, at first, we detected 133 common differentially expressed genes (cDEGs) between ccRCC and control samples based on nine (9) microarray gene-expression datasets with NCBI accession IDs GSE16441, GSE53757, GSE66270, GSE66272, GSE16449, GSE76351, GSE66271, GSE71963, and GSE36895. Then, we filtered these cDEGs through survival analysis with the independent TCGA and GTEx database and obtained 54 scDEGs having significant prognostic power. Next, we used protein-protein interaction (PPI) network analysis with the reduced set of 54 scDEGs to identify ccRCC-causing top-ranked eight KGs (PLG, ENO2, ALDOB, UMOD, ALDH6A1, SLC12A3, SLC12A1, SERPINA5). The pan-cancer analysis with KGs based on TCGA database showed the significant association with different subtypes of kidney cancers including ccRCC. The gene regulatory network (GRN) analysis revealed some crucial transcriptional and post-transcriptional regulators of KGs. The scDEGs-set enrichment analysis significantly identified some crucial ccRCC-causing molecular functions, biological processes, cellular components, and pathways that are linked to the KGs. The results of DNA methylation study indicated the hypomethylation and hyper-methylation of KGs, which may lead the development of ccRCC. The immune infiltrating cell types (CD8+ T and CD4+ T cell, B cell, neutrophil, dendritic cell and macrophage) analysis with KGs indicated their significant association in ccRCC, where KGs are positively correlated with CD4+ T cells, but negatively correlated with the majority of other immune cells, which is supported by the literature review also. Then we detected 10 repurposable drug molecules (Irinotecan, Imatinib, Telaglenastat, Olaparib, RG-4733, Sorafenib, Sitravatinib, Cabozantinib, Abemaciclib, and Dovitinib.) by molecular docking with KGs-mediated receptor proteins. Their ADME/T analysis and cross-validation with the independent receptors, also supported their potent against ccRCC. Therefore, these outputs might be useful inputs/resources to the wet-lab researchers and clinicians for considering an effective treatment strategy against ccRCC.


Asunto(s)
Carcinoma de Células Renales , Regulación Neoplásica de la Expresión Génica , Neoplasias Renales , Humanos , Carcinoma de Células Renales/genética , Carcinoma de Células Renales/diagnóstico , Carcinoma de Células Renales/tratamiento farmacológico , Carcinoma de Células Renales/patología , Neoplasias Renales/genética , Neoplasias Renales/patología , Neoplasias Renales/diagnóstico , Neoplasias Renales/tratamiento farmacológico , Pronóstico , Análisis de Supervivencia , Perfilación de la Expresión Génica , Biomarcadores de Tumor/genética , Mapas de Interacción de Proteínas/genética , Redes Reguladoras de Genes , Transcriptoma
11.
S D Med ; 77(suppl 8): s20, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39311738

RESUMEN

INTRODUCTION: Renal cell carcinoma (RCC) is a common malignancy known for its potential to invade the venous system, particularly the inferior vena cava (IVC), leading to tumor thrombus (TT) formation. While the presence of TT in RCC isn't unique, extension of TT above the diaphragm is rare. This case highlights the challenges encountered in diagnosing and managing RCC with extensive TT involvement. CASE REPORT: A 69-year-old man presents with 3-month history of dyspnea and increasing fatigue in the setting of 30 pounds weight loss. Laboratory studies showed anemia and acute kidney injury. CT abdomen and pelvis revealed 6.8cm solid mass within the left perinephric space, enlarged IVC with large thrombus. Kidney biopsy returned positive for clear cell renal carcinoma with metastasis to the liver. Several days into the hospitalization the patient began to experience increased abdominal pain. Repeat ultrasound showed tumor thrombus with extension within the intrahepatic IVC and hepatic veins and reversal of portal venous flow. During the imaging study, the patient suffered a cardiac arrest and expired. Postmortem examination revealed diffuse showering of tumor emboli within the pulmonary arteries, likely contributing to the patient's rapidly progressive respiratory failure, and subsequent cardiovascular collapse. CONCLUSION: This case illustrates the complexity of treating patients with extensive TT. In patients with RCC associated TT, the risk for thromboembolism is increased substantially, however the full benefit of anticoagulation remains controversial. Understanding the intricacies of TT involvement and its potential complications is crucial in guiding treatment decisions in patients with significant tumor thrombus burden.


Asunto(s)
Carcinoma de Células Renales , Neoplasias Renales , Vena Cava Inferior , Humanos , Carcinoma de Células Renales/complicaciones , Carcinoma de Células Renales/diagnóstico , Carcinoma de Células Renales/patología , Carcinoma de Células Renales/secundario , Masculino , Anciano , Neoplasias Renales/patología , Neoplasias Renales/complicaciones , Neoplasias Renales/diagnóstico , Resultado Fatal , Vena Cava Inferior/diagnóstico por imagen , Vena Cava Inferior/patología , Trombosis/etiología , Trombosis/diagnóstico , Células Neoplásicas Circulantes/patología , Trombosis de la Vena/etiología , Trombosis de la Vena/diagnóstico
12.
Medicine (Baltimore) ; 103(37): e39631, 2024 Sep 13.
Artículo en Inglés | MEDLINE | ID: mdl-39287262

RESUMEN

RATIONALE: The different variants of renal angiomyolipoma pose diagnostic and therapeutic challenges in clinical practice. We report a rare case of renal solid-cystic angiomyolipoma, with the aim of offering new insights into the preoperative imaging assessment of renal masses. PATIENT CONCERNS: A 72-year-old female was admitted to our hospital because of a solid-cystic mass discovered in her right kidney during an abdominal computed tomography scan at another hospital. Her medical history includes a 5-year history of hypertension treated with medication, as well as hepatic cysts and bilateral renal cysts. DIAGNOSES: The postoperative pathological diagnosis is renal solid-cystic angiomyolipoma. INTERVENTIONS: The solid-cystic mass in the right kidney was surgically removed via laparoscopic partial nephrectomy under general anesthesia. OUTCOMES: The patient had an uneventful recovery and was discharged on the second postoperative day without complications. LESSONS: Renal angiomyolipoma is usually easily distinguishable on imaging, but this case aims to alert clinicians to differentiate the rare variants of renal angiomyolipoma from other renal tumors. In the future, more cases are needed to summarize the characteristics of different variants of renal angiomyolipoma.


Asunto(s)
Angiomiolipoma , Neoplasias Renales , Nefrectomía , Tomografía Computarizada por Rayos X , Humanos , Angiomiolipoma/cirugía , Angiomiolipoma/diagnóstico , Angiomiolipoma/patología , Angiomiolipoma/diagnóstico por imagen , Femenino , Anciano , Neoplasias Renales/cirugía , Neoplasias Renales/patología , Neoplasias Renales/diagnóstico , Neoplasias Renales/diagnóstico por imagen , Nefrectomía/métodos , Diagnóstico Diferencial , Laparoscopía/métodos
13.
ACS Nano ; 18(34): 23625-23636, 2024 Aug 27.
Artículo en Inglés | MEDLINE | ID: mdl-39150349

RESUMEN

Accurate diagnosis and classification of kidney cancer are crucial for high-quality healthcare services. However, the current diagnostic platforms remain challenges in the rapid and accurate analysis of large-scale clinical biosamples. Herein, we fabricated a bifunctional smart nanoplatform based on tannic acid-modified gold nanoflowers (TA@AuNFs), integrating nanozyme catalysis for colorimetric sensing and self-assembled nanoarray-assisted LDI-MS analysis. The TA@AuNFs presented peroxidase (POD)- and glucose oxidase-like activity owing to the abundant galloyl residues on the surface of AuNFs. Combined with the colorimetric assay, the TA@AuNF-based sensing nanoplatform was used to directly detect glucose in serum for kidney tumor diagnosis. On the other hand, TA@AuNFs could self-assemble into closely packed and homogeneous two-dimensional (2D) nanoarrays at liquid-liquid interfaces by using Fe3+ as a mediator. The self-assembled TA@AuNFs (SA-TA@AuNFs) arrays were applied to assist the LDI-MS analysis of metabolites, exhibiting high ionization efficiency and excellent MS signal reproducibility. Based on the SA-TA@AuNF array-assisted LDI-MS platform, we successfully extracted metabolic fingerprints from urine samples, achieving early-stage diagnosis of kidney tumor, subtype classification, and discrimination of benign from malignant tumors. Taken together, our developed TA@AuNF-based bifunctional smart nanoplatform showed distinguished potential in clinical disease diagnosis, point-of-care testing, and biomarker discovery.


Asunto(s)
Colorimetría , Oro , Neoplasias Renales , Taninos , Humanos , Neoplasias Renales/diagnóstico , Oro/química , Taninos/química , Glucosa Oxidasa/química , Glucosa Oxidasa/metabolismo , Nanopartículas del Metal/química , Peroxidasa/química , Peroxidasa/metabolismo
15.
J Cancer Res Ther ; 20(4): 1195-1200, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-39206981

RESUMEN

INTRODUCTION: Elevated plasma D-dimer levels are an unfavorable prognostic indicator for various tumors. However, its predictive value for prognosis in pediatric patients with Wilms tumor (WT) remains unknown. We aimed to investigate the clinical and prognostic value of preoperative plasma D-dimer levels and other clinicopathological characteristics in patients with favorable histology WT (FHWT). MATERIALS AND METHODS: The clinical data of 74 children with FHWT from January 2010 to January 2022 were retrospectively analyzed. The clinicopathologic characteristics, preoperative laboratory parameter results, including D-dimer level, and follow-up data were collected. Based on the postoperative recovery status, the patients were divided into tumor-free survival and disease progression groups. The risk factors affecting disease progression in pediatric patients with WT and the impact of plasma D-dimer levels on overall survival (OS) were evaluated. RESULTS: Over a median follow-up of 33 months (range: 2-145 months), 56 patients survived without progression. Relapses and metastases occurred in 18 patients, of which four survived and 14 died. Higher preoperative plasma D-dimer levels (>0.865) (Odds ratio [OR] = 7.240, 95% confidence interval (CI) = 1.276-33.272, P = 0.011) and tumor rupture (OR = 19.984, 95% CI = 1.182-338.013, P = 0.038) were independent prognostic factors for disease progression. Additionally, patients with elevated D-dimer levels demonstrated a worse 5-year OS than those with low D-dimer levels (Hazard ratio (HR) =4.278, 95% CI = 1.074-17.035, P = 0.039). CONCLUSIONS: Elevated D-dimer levels are a prognostic factor for a poorer outcome in pediatric patients with WT and are expected to become a clinical biomarker for predicting the prognosis of WT.


Asunto(s)
Biomarcadores de Tumor , Productos de Degradación de Fibrina-Fibrinógeno , Neoplasias Renales , Tumor de Wilms , Humanos , Productos de Degradación de Fibrina-Fibrinógeno/análisis , Productos de Degradación de Fibrina-Fibrinógeno/metabolismo , Masculino , Femenino , Pronóstico , Preescolar , Estudios Retrospectivos , Biomarcadores de Tumor/sangre , Tumor de Wilms/sangre , Tumor de Wilms/cirugía , Tumor de Wilms/mortalidad , Tumor de Wilms/patología , Tumor de Wilms/diagnóstico , Niño , Lactante , Neoplasias Renales/sangre , Neoplasias Renales/cirugía , Neoplasias Renales/mortalidad , Neoplasias Renales/patología , Neoplasias Renales/diagnóstico , Estudios de Seguimiento , Periodo Preoperatorio , Factores de Riesgo , Progresión de la Enfermedad , Tasa de Supervivencia
16.
BMJ Case Rep ; 17(8)2024 Aug 22.
Artículo en Inglés | MEDLINE | ID: mdl-39179269

RESUMEN

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is an autosomal-dominant disorder that results from a germline pathogenic variant in the fumarate hydratase (FH) gene on chromosome 1, characterised by renal cell carcinoma (RCC), cutaneous leiomyoma and uterine leiomyoma. Leiomyosarcomas are reported in less than 1% of those with HLRCC. We report a case of a man in his 30s who had a long-standing plaque excised from the left upper arm after undergoing a radical nephrectomy for a fumarate-deficient RCC, with histological exam revealing a grade 1 leiomyosarcoma. Genetic testing confirmed a heterozygous pathogenic variant in the FH gene. This is a rare case of leiomyosarcoma associated with HLRCC, and our patient remains under surveillance with interval abdominal imaging and skin examination. Leiomyosarcomas are difficult to distinguish clinically from their benign counterpart; therefore, histopathological examination is paramount with a low threshold for excision.


Asunto(s)
Fumarato Hidratasa , Leiomiomatosis , Leiomiosarcoma , Síndromes Neoplásicos Hereditarios , Neoplasias Cutáneas , Neoplasias Uterinas , Humanos , Leiomiomatosis/genética , Leiomiomatosis/patología , Leiomiomatosis/cirugía , Leiomiomatosis/diagnóstico , Masculino , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología , Leiomiosarcoma/genética , Leiomiosarcoma/diagnóstico , Leiomiosarcoma/cirugía , Leiomiosarcoma/patología , Síndromes Neoplásicos Hereditarios/genética , Síndromes Neoplásicos Hereditarios/diagnóstico , Síndromes Neoplásicos Hereditarios/cirugía , Síndromes Neoplásicos Hereditarios/patología , Neoplasias Uterinas/genética , Neoplasias Uterinas/patología , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/cirugía , Adulto , Fumarato Hidratasa/genética , Nefrectomía , Neoplasias Renales/genética , Neoplasias Renales/patología , Neoplasias Renales/diagnóstico , Neoplasias Renales/cirugía
17.
Expert Rev Mol Diagn ; 24(9): 859-871, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39187988

RESUMEN

OBJECTIVES: Renal cell carcinoma (RCC) is the most common cancer of the kidney. This study aims to evaluate the potential predictive value of E-cadherin, a marker of the epithelial mesenchymal transit (EMT) process that has been associated with tumor metastasis. METHODS: We searched PubMed, Embase, and Cochrane Library to identify prospective studies. Hazard ratios (HRs), odds ratios (ORs), and 95% confidence intervals (CIs) were summarized to validate the relationship between E-cadherin and survival and clinical characteristics. The quality of the included studies was assessed using the NOS table. Then, we analyzed genetic data and clinical characteristics from The Cancer Genome Atlas Program (TCGA) database using R language with the dplyr package for validation. RESULTS: Including 21 articles. The analysis revealed a strong link between high E-cadherin expression and favorable prognosis (for OS, HR = 0.35, 95% CI: 0.19-0.62; for PFS, HR = 0.19, 95% CI: 0.03-0.53; for DSS, HR = 0.25, 95% CI: 0.08-0.76; for RFS, HR = 0.71, 95% CI: 0.44-1.16; for DFS, HR = 0.28, 95% CI: 0.13-0.61; for T stage, OR = 0.21, 95% CI: 0.11-0.41; for N stage, OR = 0.07, 95%CI: 0.02-0.25; for M stage, OR = 0.12, 95% CI: 0.02-0.60; for clinical stage, OR = 0.29, 95% CI: 0.18-0.47; for nuclear grade, OR = 0.23, 95% CI: 0.13-0.41; for tumor size, OR = 0.49, 95% CI: 0.26-0.92). The findings were supported by bioinformatic analysis which used TCGA RCC patient's cohort (P < 0.01). CONCLUSION: Based on the current data, E-cadherin may predict a better prognosis in RCC patients.


Asunto(s)
Biomarcadores de Tumor , Cadherinas , Carcinoma de Células Renales , Biología Computacional , Neoplasias Renales , Humanos , Carcinoma de Células Renales/genética , Carcinoma de Células Renales/diagnóstico , Carcinoma de Células Renales/mortalidad , Carcinoma de Células Renales/metabolismo , Cadherinas/genética , Cadherinas/metabolismo , Biomarcadores de Tumor/genética , Neoplasias Renales/genética , Neoplasias Renales/diagnóstico , Neoplasias Renales/mortalidad , Neoplasias Renales/metabolismo , Pronóstico , Biología Computacional/métodos , Antígenos CD/genética , Antígenos CD/metabolismo
18.
JAMA ; 332(12): 1001-1010, 2024 Sep 24.
Artículo en Inglés | MEDLINE | ID: mdl-39196544

RESUMEN

Importance: Renal cell carcinoma (RCC) is a common malignancy, with an estimated 434 840 incident cases worldwide in 2022. In the US, it is the sixth most common cancer among males and ninth among females. Observations: Clear cell RCC is the most common histologic subtype (75%-80% of cases) and is characterized by inactivation of the von Hippel Lindau (VHL) tumor suppressor gene. Many patients (37%-61%) are diagnosed with RCC incidentally on an abdominal imaging study such as ultrasound or computed tomographic scan, and 70% of patients have stage I RCC at diagnosis. Although its incidence has increased approximately 1% per year from 2015 through 2019, the mortality rate of RCC has declined about 2% per year in the US from 2016 through 2020. Patients with a solid renal mass or complex cystic renal mass should be referred to urology. Treatment options for RCC confined to the kidney include surgical resection with partial or radical nephrectomy, ablative techniques (eg, cryoablation, radiofrequency ablation, radiation), or active surveillance for some patients (especially those with renal masses <2 cm). For patients with renal masses less than 4 cm in size (48% of patients), partial nephrectomy can result in a 5-year cancer-specific survival of more than 94%. For advanced or metastatic RCC, combinations of immune checkpoint inhibitors or the combination of immune checkpoint inhibitors with tyrosine kinase inhibitors are associated with tumor response of 42% to 71%, with a median overall survival of 46 to 56 months. Conclusions and Relevance: RCC is a common malignancy that is often diagnosed incidentally on an abdominal imaging study. Seventy percent of patients are diagnosed with stage I RCC and 11% of patients with stage IV. First-line treatments for early-stage RCC are partial or radical nephrectomy, which can result in 5-year cancer-specific survival of more than 94%, ablative techniques, or active surveillance. New treatment options for patients with metastatic RCC include immune checkpoint inhibitors and tyrosine kinase inhibitors.


Asunto(s)
Carcinoma de Células Renales , Neoplasias Renales , Femenino , Humanos , Masculino , Carcinoma de Células Renales/diagnóstico , Carcinoma de Células Renales/epidemiología , Carcinoma de Células Renales/genética , Carcinoma de Células Renales/terapia , Neoplasias Renales/diagnóstico , Neoplasias Renales/epidemiología , Neoplasias Renales/genética , Neoplasias Renales/terapia , Estadificación de Neoplasias , Nefrectomía/métodos , Incidencia , Riñón/diagnóstico por imagen , Riñón/patología , Riñón/cirugía , Tasa de Supervivencia , Técnicas de Ablación/métodos , Espera Vigilante , Síndromes Neoplásicos Hereditarios/diagnóstico , Síndromes Neoplásicos Hereditarios/epidemiología , Síndromes Neoplásicos Hereditarios/genética , Síndromes Neoplásicos Hereditarios/terapia , Proteína Supresora de Tumores del Síndrome de Von Hippel-Lindau/genética
19.
J Pathol ; 264(2): 228-240, 2024 10.
Artículo en Inglés | MEDLINE | ID: mdl-39092712

RESUMEN

Xp11.2 translocation renal cell carcinomas (tRCC) are a rare and highly malignant type of renal cancer, lacking efficient diagnostic indicators and therapeutic targets. Through the analysis of public databases and our cohort, we identified NMRK2 as a potential diagnostic marker for distinguishing Xp11.2 tRCC from kidney renal clear cell carcinoma (KIRC) and kidney renal papillary cell carcinoma (KIRP) due to its specific upregulation in Xp11.2 tRCC tissues. Mechanistically, we discovered that TFE3 fusion protein binds to the promoter of the NMRK2 gene, leading to its upregulation. Importantly, we established RNA- and protein-based diagnostic methods for identifying Xp11.2 tRCC based on NMRK2 expression levels, and the diagnostic performance of our methods was comparable to a dual-color break-apart fluorescence in situ hybridization assay. Moreover, we successfully identified fresh Xp11.2 tRCC tissues after surgical excision using our diagnostic methods and established an immortalized Xp11.2 tRCC cell line for further research purposes. Functional studies revealed that NMRK2 promotes the progression of Xp11.2 tRCC by upregulating the NAD+/NADH ratio, and supplementation with ß-nicotinamide mononucleotide (NMN) or nicotinamide riboside chloride (NR), effectively rescued the phenotypes induced by the knockdown of NMRK2 in Xp11.2 tRCC. Taken together, these data introduce a new diagnostic indicator capable of accurately distinguishing Xp11.2 tRCC and highlight the possibility of developing novel targeted therapeutics. © 2024 The Pathological Society of Great Britain and Ireland.


Asunto(s)
Biomarcadores de Tumor , Carcinoma de Células Renales , Cromosomas Humanos X , Neoplasias Renales , Translocación Genética , Humanos , Carcinoma de Células Renales/genética , Carcinoma de Células Renales/patología , Carcinoma de Células Renales/diagnóstico , Neoplasias Renales/genética , Neoplasias Renales/diagnóstico , Neoplasias Renales/patología , Cromosomas Humanos X/genética , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/metabolismo , Masculino , Factores de Transcripción Básicos con Cremalleras de Leucinas y Motivos Hélice-Asa-Hélice/genética , Factores de Transcripción Básicos con Cremalleras de Leucinas y Motivos Hélice-Asa-Hélice/metabolismo , Femenino , Regulación Neoplásica de la Expresión Génica , Línea Celular Tumoral
20.
Kaohsiung J Med Sci ; 40(10): 926-933, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39210603

RESUMEN

This study aimed to investigate the role of cluster of differentiation 276 (CD276) in evaluating the prognosis of clear cell renal carcinoma (ccRCC) and to build a nomogram for predicting ccRCC progression post-surgery. Using data downloaded from The Cancer Genome Atlas (TCGA) database, we constructed a Kaplan-Meier (KM) curve depicting the relationship between CD276 expression levels and the progression-free interval (PFI) in 539 ccRCC cases. We further validated this by plotting a KM curve of the relationship between CD276 expression levels and PFI in 116 ccRCC patients from our hospital. Using clinical data collected from 116 patients, we identified independent risk factors affecting postoperative PFI in patients with ccRCC through univariate and multivariate COX analyses and created a nomogram for visual representation. Both TCGA and clinical data revealed a negative correlation between the expression levels of CD276 and PFI (p < 0.05). Univariate COX analysis revealed that the prognostic nutritional index, neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, systemic inflammatory index, World Health Organization grading, tumor diameter, CD276 expression levels, T stage, and N stage were related to PFI (p < 0.05). Furthermore, multivariate COX analysis indicated that tumor diameter and CD276 expression levels were independent risk factors for postoperative PFI in patients with ccRCC (p < 0.05). The calibration curve of the established nomogram exhibited a slope close to 1, with a Hosmer-Lemeshow goodness-of-fit test result of 2.335 and a p-value of 0.311. In patients with ccRCC, a negative correlation was noted between tumor CD276 expression and PFI. The larger the tumor diameter and the higher the tumor CD276 expression level, the shorter is the PFI.


Asunto(s)
Antígenos B7 , Biomarcadores de Tumor , Carcinoma de Células Renales , Estimación de Kaplan-Meier , Neoplasias Renales , Nomogramas , Humanos , Carcinoma de Células Renales/metabolismo , Carcinoma de Células Renales/patología , Carcinoma de Células Renales/genética , Carcinoma de Células Renales/cirugía , Carcinoma de Células Renales/diagnóstico , Masculino , Femenino , Biomarcadores de Tumor/metabolismo , Biomarcadores de Tumor/genética , Persona de Mediana Edad , Antígenos B7/metabolismo , Antígenos B7/genética , Neoplasias Renales/patología , Neoplasias Renales/metabolismo , Neoplasias Renales/genética , Neoplasias Renales/cirugía , Neoplasias Renales/diagnóstico , Pronóstico , Anciano , Factores de Riesgo , Modelos de Riesgos Proporcionales
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