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Comprehensive molecular characterization and effective therapy in a rare case of metastatic renal oncocytoma.
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Adenoma Oxifílico , Neoplasias Renales , Humanos , Persona de Mediana Edad , Adenoma Oxifílico/secundario , Adenoma Oxifílico/patología , Adenoma Oxifílico/genética , Neoplasias Renales/genética , Neoplasias Renales/patología , Neoplasias Renales/tratamiento farmacológico , Metástasis de la NeoplasiaRESUMEN
Introduction: This study explores the use of the latest You Only Look Once (YOLO V7) object detection method to enhance kidney detection in medical imaging by training and testing a modified YOLO V7 on medical image formats. Methods: Study includes 878 patients with various subtypes of renal cell carcinoma (RCC) and 206 patients with normal kidneys. A total of 5657 MRI scans for 1084 patients were retrieved. 326 patients with 1034 tumors recruited from a retrospective maintained database, and bounding boxes were drawn around their tumors. A primary model was trained on 80% of annotated cases, with 20% saved for testing (primary test set). The best primary model was then used to identify tumors in the remaining 861 patients and bounding box coordinates were generated on their scans using the model. Ten benchmark training sets were created with generated coordinates on not-segmented patients. The final model used to predict the kidney in the primary test set. We reported the positive predictive value (PPV), sensitivity, and mean average precision (mAP). Results: The primary training set showed an average PPV of 0.94 ± 0.01, sensitivity of 0.87 ± 0.04, and mAP of 0.91 ± 0.02. The best primary model yielded a PPV of 0.97, sensitivity of 0.92, and mAP of 0.95. The final model demonstrated an average PPV of 0.95 ± 0.03, sensitivity of 0.98 ± 0.004, and mAP of 0.95 ± 0.01. Conclusion: Using a semi-supervised approach with a medical image library, we developed a high-performing model for kidney detection. Further external validation is required to assess the model's generalizability.
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PURPOSE: Reoperative partial nephrectomy (RePN) offers several advantages for the treatment of recurrent, multifocal renal masses. RePN has been previously demonstrated to be technically feasible and delay the need for renal replacement therapy. However, there is still inherent complexity and known risks to reoperative nephrectomy. We studied the largest population of RePNs to characterize renal functional outcomes and the likelihood of intra- and postoperative complications. MATERIALS AND METHODS: Query of an institutional surgical registry was conducted. Demographic data, serum creatinine for estimated glomerular filtration rate (eGFR), and protein dipstick results were assessed within 1 week prior to surgery, and postoperative function assessments were studied within a year of surgery. RePN was defined as serial surgical resection of the ipsilateral renal unit. RESULTS: A total of 1131 partial nephrectomies performed on 663 patients at a single center were retrospectively evaluated. In reoperative cases, median number of operations per renal unit was 2 (range: 2-6). There was a stepwise decline in eGFR with an average decline of 6.1 with each RePN. With each subsequent nephrectomy, surgical duration, estimated blood loss, and incidence of preoperative anemia increased. Postoperative eGFR showed a significant positive association with preoperative eGFR, while negative associations were found with age, number of previous ipsilateral partial nephrectomies, number of tumors, and largest tumor size. High-grade complications were associated with the number of ipsilateral partial nephrectomies, tumor count, and tumor size. Robotic or laparoscopic procedures exhibited a likelihood of grade 3 or greater complications compared to open surgery. CONCLUSIONS: RePN contributes to renal dysfunction and an increased risk of surgical complications. Intraoperative blood loss and surgical duration increase with subsequent nephrectomy. Such risks are dependent on the number of prior operative interventions on the kidney, suggesting a stepwise progression of surgical morbidity.
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Tasa de Filtración Glomerular , Neoplasias Renales , Recurrencia Local de Neoplasia , Nefrectomía , Reoperación , Humanos , Nefrectomía/métodos , Nefrectomía/efectos adversos , Neoplasias Renales/cirugía , Femenino , Masculino , Estudios Retrospectivos , Persona de Mediana Edad , Anciano , Reoperación/estadística & datos numéricos , Recurrencia Local de Neoplasia/epidemiología , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Adulto , Anciano de 80 o más Años , Resultado del TratamientoRESUMEN
INTRODUCTION: GPT-4 is a large language model with potential for multiple applications in urology. Our study sought to evaluate GPT-4's performance in data extraction from renal surgery operative notes. METHODS: GPT-4 was queried to extract information on laterality, surgery, approach, estimated blood loss, and ischemia time from deidentified operative notes. Match rates were determined by the number of "matched" data points between GPT-4 and human-curated extraction. Accuracy rates were calculated after manually reviewing "not matched" data points. Cohen's kappa and the intraclass coefficient were used to evaluate interrater agreement/reliability. RESULTS: Our cohort consisted of 1498 renal surgeries from 2003 to 2023. Match rates were high for laterality (94.4%), surgery (92.5%), and approach (89.4%), but lower for estimated blood loss (77.1%) and ischemia time (25.6%). GPT-4 was more accurate for estimated blood loss (90.3% vs 85.5% human curated) and similarly accurate for laterality (95.2% vs 95.3% human curated). Human-curated accuracy rates were higher for surgery (99.3% vs 93% GPT-4), approach (97.9% vs 90.8% GPT-4), and ischemia time (95.6% vs 30.7% GPT-4). Cohen's kappa was 0.96 for laterality, 0.83 for approach, and 0.71 for surgery. The intraclass coefficient was 0.62 for estimated blood loss and 0.09 for ischemia time. CONCLUSIONS: Match and accuracy rates were higher for categorical variables. GPT-4 data extraction was particularly error prone for variables with heterogenous documentation styles. The role of a standard operative template to aid data extraction will be explored in the future. GPT-4 can be utilized as a helpful and efficient data extraction tool with manual feedback.
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Estudios de Factibilidad , Humanos , Riñón/cirugía , Femenino , Masculino , Registros Electrónicos de Salud , Almacenamiento y Recuperación de la Información/métodos , Nefrectomía/métodosRESUMEN
PURPOSE: Large language models, a subset of artificial intelligence, have immense potential to support human tasks. The role of these models in science and medicine is unclear, requiring strong critical thinking and analysis skills. The objective of our study was to evaluate GPT-4's abilities to assess postoperative complications after renal surgeries. MATERIALS AND METHODS: Discharge summaries were compiled, and patient information was deidentified in a Python-based program. Prompts were engineered in GPT-4 to assess for the presence of postoperative complications. GPT-4 was further asked to interpret each complication's Clavien-Dindo classification and institutional-specific category. GPT-4's database was compared to a human-curated database. Discrepancies were manually reviewed to calculate match and accuracy rates. RESULTS: Approximately 944 renal surgeries were conducted from August 2005 to March 2022. There was a 79.6% match rate between GPT-4 and human-curated data in detecting postoperative complications. Accuracy rates were 86.7% for GPT-4 and 92.9% for human-curated. A subgroup of 139 patients had a complication detected by both GPT-4 and human with available Clavien-Dindo classification and category information. There was a 37.4% overall match rate for Clavien-Dindo grade and 55.4% match rate for category. CONCLUSIONS: GPT-4 was able to accurately detect if there were any postoperative complications. It struggled with the complex task of further analyzing complications, especially with Clavien-Dindo classification, which requires more critical thinking and interpretation. While GPT-4 is not yet ready for advanced postoperative complication analysis, it can still be used to support clinicians in this endeavor.
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Complicaciones Posoperatorias , Humanos , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/diagnóstico , Razonamiento Clínico , Femenino , Masculino , Inteligencia ArtificialRESUMEN
OBJECTIVES: The aim of this study was to assess the interreader reliability and per-RCC sensitivity of high-resolution photon-counting computed tomography (PCCT) in the detection and characterization of renal masses in comparison to MRI. MATERIALS AND METHODS: This prospective study included 24 adult patients (mean age, 52 ± 14 years; 14 females) who underwent PCCT (using an investigational whole-body CT scanner) and abdominal MRI within a 3-month time interval and underwent surgical resection (partial or radical nephrectomy) with histopathology (n = 70 lesions). Of the 24 patients, 17 had a germline mutation and the remainder were sporadic cases. Two radiologists (R1 and R2) assessed the PCCT and corresponding MRI studies with a 3-week washout period between reviews. Readers recorded the number of lesions in each patient and graded each targeted lesion's characteristic features, dimensions, and location. Data were analyzed using a 2-sample t test, Fisher exact test, and weighted kappa. RESULTS: In patients with von Hippel-Lindau mutation, R1 identified a similar number of lesions suspicious for neoplasm on both modalities (51 vs 50, P = 0.94), whereas R2 identified more suspicious lesions on PCCT scans as compared with MRI studies (80 vs 56, P = 0.12). R1 and R2 characterized more lesions as predominantly solid in MRIs (R1: 58/70 in MRI vs 52/70 in PCCT, P < 0.001; R2: 60/70 in MRI vs 55/70 in PCCT, P < 0.001). R1 and R2 performed similarly in detecting neoplastic lesions on PCCT and MRI studies (R1: 94% vs 90%, P = 0.5; R2: 73% vs 79%, P = 0.13). CONCLUSIONS: The interreader reliability and per-RCC sensitivity of PCCT scans acquired on an investigational whole-body PCCT were comparable to MRI scans in detecting and characterizing renal masses. CLINICAL RELEVANCE STATEMENT: PCCT scans have comparable performance to MRI studies while allowing for improved characterization of the internal composition of lesions due to material decomposition analysis. Future generations of this imaging modality may reveal additional advantages of PCCT over MRI.
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INTRODUCTION: Delayed bleeding is a potentially serious complication after partial nephrectomy (PN), with reported rates of 1%-2%. Patients with multiple renal tumors, including those with hereditary forms of kidney cancer, are often managed with resection of multiple tumors in a single kidney which may increase the risk of delayed bleeding, though outcomes have not previously been reported specifically in this population. The objective of this study was to evaluate the incidence and timing of delayed bleeding as well as the impact of intervention on renal functional outcomes in a cohort primarily made up of patients at risk for bilateral, multifocal renal tumors. METHODS: A retrospective review of a prospectively maintained database of patients with known or suspected predisposition to bilateral, multifocal renal tumors who underwent PN from 2003 to 2023 was conducted. Patients who presented with delayed bleeding were identified. Patients with delayed bleeding were compared to those without. Comparative statistics and univariate logistic regression were used to determine potential risk factors for delayed bleeding. RESULTS: A total of 1256 PN were performed during the study period. Angiographic evidence of pseudoaneurysm, AV fistula and/or extravasation occurred in 24 cases (1.9%). Of these, 21 were symptomatic presenting with gross hematuria in 13 (54.2%), decreasing hemoglobin in 4(16.7%), flank pain in 2(8.3%), and mental status change in 2 (8.3%), while 3 patients were asymptomatic. Median number of resected tumors was 5 (IQR 2-8). All patients underwent angiogram with super-selective embolization. Median time to bleed event was 13.5 days (IQR 7-22). Factors associated with delayed bleeding included open approach (OR 2.2, IQR(1.06-5.46), Pâ¯=â¯0.04 and left-sided surgery (OR 4.93, IQR(1.67-14.5), Pâ¯=â¯0.004. Selective embolization had little impact on ultimate renal functional outcomes, with a median change of 11% from the baseline eGFR after partial nephrectomy and embolization. One patient required total nephrectomy for refractory bleeding after embolization. CONCLUSIONS: Delayed bleeding after PN in a cohort of patients with multifocal tumors is an infrequent event, with similar rates to single tumor series. Patients should be counseled regarding timing and symptoms of delayed bleeding and multidisciplinary management with interventional radiology is critical for timely diagnosis and treatment.
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Neoplasias Renales , Nefrectomía , Hemorragia Posoperatoria , Humanos , Nefrectomía/métodos , Nefrectomía/efectos adversos , Neoplasias Renales/cirugía , Femenino , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Incidencia , Hemorragia Posoperatoria/etiología , Hemorragia Posoperatoria/epidemiología , Anciano , Factores de Tiempo , Factores de Riesgo , Recurrencia Local de Neoplasia/cirugíaRESUMEN
BACKGROUND: Pathology grading is an essential step for the treatment and evaluation of the prognosis in patients with clear cell renal cell carcinoma (ccRCC). PURPOSE: To investigate the utility of texture analysis in evaluating Fuhrman grades of renal tumors in patients with Von Hippel-Lindau (VHL)-associated ccRCC, aiming to improve non-invasive diagnosis and personalized treatment. STUDY TYPE: Retrospective analysis of a prospectively maintained cohort. POPULATION: One hundred and thirty-six patients, 84 (61%) males and 52 (39%) females with pathology-proven ccRCC with a mean age of 52.8 ± 12.7 from 2010 to 2023. FIELD STRENGTH AND SEQUENCES: 1.5 and 3 T MRIs. Segmentations were performed on the T1-weighted 3-minute delayed sequence and then registered on pre-contrast, T1-weighted arterial and venous sequences. ASSESSMENT: A total of 404 lesions, 345 low-grade tumors, and 59 high-grade tumors were segmented using ITK-SNAP on a T1-weighted 3-minute delayed sequence of MRI. Radiomics features were extracted from pre-contrast, T1-weighted arterial, venous, and delayed post-contrast sequences. Preprocessing techniques were employed to address class imbalances. Features were then rescaled to normalize the numeric values. We developed a stacked model combining random forest and XGBoost to assess tumor grades using radiomics signatures. STATISTICAL TESTS: The model's performance was evaluated using positive predictive value (PPV), sensitivity, F1 score, area under the curve of receiver operating characteristic curve, and Matthews correlation coefficient. Using Monte Carlo technique, the average performance of 100 benchmarks of 85% train and 15% test was reported. RESULTS: The best model displayed an accuracy of 0.79. For low-grade tumor detection, a sensitivity of 0.79, a PPV of 0.95, and an F1 score of 0.86 were obtained. For high-grade tumor detection, a sensitivity of 0.78, PPV of 0.39, and F1 score of 0.52 were reported. DATA CONCLUSION: Radiomics analysis shows promise in classifying pathology grades non-invasively for patients with VHL-associated ccRCC, potentially leading to better diagnosis and personalized treatment. LEVEL OF EVIDENCE: 1 TECHNICAL EFFICACY: Stage 2.
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Carcinoma de Células Renales , Neoplasias Renales , Imagen por Resonancia Magnética , Clasificación del Tumor , Humanos , Carcinoma de Células Renales/diagnóstico por imagen , Carcinoma de Células Renales/patología , Femenino , Masculino , Persona de Mediana Edad , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/patología , Imagen por Resonancia Magnética/métodos , Estudios Retrospectivos , Adulto , Anciano , Enfermedad de von Hippel-Lindau/diagnóstico por imagen , Enfermedad de von Hippel-Lindau/complicaciones , Curva ROC , Procesamiento de Imagen Asistido por Computador/métodos , PronósticoRESUMEN
INTRODUCTION: Classification of clear cell renal cell carcinoma (ccRCC) growth rates in patients with Von Hippel-Lindau (VHL) syndrome has several ramifications for tumor monitoring and surgical planning. Using two separate machine-learning algorithms, we sought to produce models to predict ccRCC growth rate classes based on qualitative MRI-derived characteristics. MATERIAL AND METHODS: We used a prospectively maintained database of patients with VHL who underwent surgical resection for ccRCC between January 2015 and June 2022. We employed a threshold growth rate of 0.5 cm per year to categorize ccRCC tumors into two distinct groups-'slow-growing' and 'fast-growing'. Utilizing a questionnaire of qualitative imaging features, two radiologists assessed each lesion on different MRI sequences. Two machine-learning models, a stacked ensemble technique and a decision tree algorithm, were used to predict the tumor growth rate classes. Positive predictive value (PPV), sensitivity, and F1-score were used to evaluate the performance of the models. RESULTS: This study comprises 55 patients with VHL with 128 ccRCC tumors. Patients' median age was 48 years, and 28 patients were males. Each patient had an average of two tumors, with a median size of 2.1 cm and a median growth rate of 0.35 cm/year. The overall performance of the stacked and DT model had 0.77 ± 0.05 and 0.71 ± 0.06 accuracies, respectively. The best stacked model achieved a PPV of 0.92, a sensitivity of 0.91, and an F1-score of 0.90. CONCLUSION: This study provides valuable insight into the potential of machine-learning analysis for the determination of renal tumor growth rate in patients with VHL. This finding could be utilized as an assistive tool for the individualized screening and follow-up of this population.
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Carcinoma de Células Renales , Carcinoma , Neoplasias Renales , Masculino , Humanos , Persona de Mediana Edad , Femenino , Carcinoma de Células Renales/diagnóstico por imagen , Carcinoma de Células Renales/patología , Riñón/diagnóstico por imagen , Riñón/patología , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/cirugía , Imagen por Resonancia Magnética , Aprendizaje AutomáticoRESUMEN
INTRODUCTION: Accurate diagnosis and treatment of kidney tumors greatly benefit from automated solutions for detection and classification on MRI. In this study, we explore the application of a deep learning algorithm, YOLOv7, for detecting kidney tumors on contrast-enhanced MRI. MATERIAL AND METHODS: We assessed the performance of YOLOv7 tumor detection on excretory phase MRIs in a large institutional cohort of patients with RCC. Tumors were segmented on MRI using ITK-SNAP and converted to bounding boxes. The cohort was randomly divided into ten benchmarks for training and testing the YOLOv7 algorithm. The model was evaluated using both 2-dimensional and a novel in-house developed 2.5-dimensional approach. Performance measures included F1, Positive Predictive Value (PPV), Sensitivity, F1 curve, PPV-Sensitivity curve, Intersection over Union (IoU), and mean average PPV (mAP). RESULTS: A total of 326 patients with 1034 tumors with 7 different pathologies were analyzed across ten benchmarks. The average 2D evaluation results were as follows: Positive Predictive Value (PPV) of 0.69 ± 0.05, sensitivity of 0.39 ± 0.02, and F1 score of 0.43 ± 0.03. For the 2.5D evaluation, the average results included a PPV of 0.72 ± 0.06, sensitivity of 0.61 ± 0.06, and F1 score of 0.66 ± 0.04. The best model performance demonstrated a 2.5D PPV of 0.75, sensitivity of 0.69, and F1 score of 0.72. CONCLUSION: Using computer vision for tumor identification is a cutting-edge and rapidly expanding subject. In this work, we showed that YOLOv7 can be utilized in the detection of kidney cancers.
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Carcinoma de Células Renales , Aprendizaje Profundo , Neoplasias Renales , Humanos , Algoritmos , Carcinoma de Células Renales/diagnóstico por imagen , Neoplasias Renales/diagnóstico por imagen , Imagen por Resonancia Magnética , Distribución AleatoriaRESUMEN
OBJECTIVE: To determine the reliability of an MRI-based qualitative kidney imaging surveillance scoring system (KISSS) and assess which imaging features predict growth rate (GR) of renal tumors in patients with VHL. MATERIALS AND METHODS: We identified 55 patients with VHL with 128 renal tumors who underwent intervention from 2015 to 2020 at the National Cancer Institute. All patients had 2 preoperative MRIs at least 3 months apart. Two fellowship-trained radiologists scored each tumor on location and MR-sequence-specific imaging parameters from the earlier MRI. Weighted kappa was used to determine the degree of agreement between radiologists for each parameter. GR was calculated as the difference in maximum tumor dimension over time (cm/year). Differences in mean growth rate (MGR) within categories of each imaging variable were assessed by ANOVA. RESULTS: Apart from tumor margin and renal sinus, reliability was at least moderate (K > 0.40) for imaging parameters. Median initial tumor size was 2.1 cm, with average follow-up of 1.2 years. Tumor MGR was 0.42 cm/year. T2 hypointense, mixed/predominantly solid, and high restricted diffusion tumors grew faster. When comparing different combinations of these variables, the model with the lowest mean error among both radiologists utilized only solid/cystic and restricted diffusion features. CONCLUSIONS: We demonstrate a novel MR-based scoring system (KISSS) that has good precision with minimal training and can be applied to other qualitative radiology studies. A subset of imaging variables (T2 intensity; restricted diffusion; and solid/cystic) were independently associated with growth rate in VHL renal tumors, with the combination of the latter two most optimal. Additional validation, including in sporadic RCC population, is warranted.
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Carcinoma de Células Renales , Neoplasias Renales , Enfermedad de von Hippel-Lindau , Humanos , Carcinoma de Células Renales/patología , Reproducibilidad de los Resultados , Neoplasias Renales/patología , Riñón/diagnóstico por imagen , Riñón/patología , Imagen por Resonancia Magnética , Enfermedad de von Hippel-Lindau/complicaciones , Enfermedad de von Hippel-Lindau/diagnóstico por imagen , Proteína Supresora de Tumores del Síndrome de Von Hippel-LindauRESUMEN
OBJECTIVE: Radiology reporting is an essential component of clinical diagnosis and decision-making. With the advent of advanced artificial intelligence (AI) models like GPT-4 (Generative Pre-trained Transformer 4), there is growing interest in evaluating their potential for optimizing or generating radiology reports. This study aimed to compare the quality and content of radiologist-generated and GPT-4 AI-generated radiology reports. METHODS: A comparative study design was employed in the study, where a total of 100 anonymized radiology reports were randomly selected and analyzed. Each report was processed by GPT-4, resulting in the generation of a corresponding AI-generated report. Quantitative and qualitative analysis techniques were utilized to assess similarities and differences between the two sets of reports. RESULTS: The AI-generated reports showed comparable quality to radiologist-generated reports in most categories. Significant differences were observed in clarity (p = 0.027), ease of understanding (p = 0.023), and structure (p = 0.050), favoring the AI-generated reports. AI-generated reports were more concise, with 34.53 fewer words and 174.22 fewer characters on average, but had greater variability in sentence length. Content similarity was high, with an average Cosine Similarity of 0.85, Sequence Matcher Similarity of 0.52, BLEU Score of 0.5008, and BERTScore F1 of 0.8775. CONCLUSION: The results of this proof-of-concept study suggest that GPT-4 can be a reliable tool for generating standardized radiology reports, offering potential benefits such as improved efficiency, better communication, and simplified data extraction and analysis. However, limitations and ethical implications must be addressed to ensure the safe and effective implementation of this technology in clinical practice. CLINICAL RELEVANCE STATEMENT: The findings of this study suggest that GPT-4 (Generative Pre-trained Transformer 4), an advanced AI model, has the potential to significantly contribute to the standardization and optimization of radiology reporting, offering improved efficiency and communication in clinical practice. KEY POINTS: ⢠Large language model-generated radiology reports exhibited high content similarity and moderate structural resemblance to radiologist-generated reports. ⢠Performance metrics highlighted the strong matching of word selection and order, as well as high semantic similarity between AI and radiologist-generated reports. ⢠Large language model demonstrated potential for generating standardized radiology reports, improving efficiency and communication in clinical settings.
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Background: The von Hippel-Lindau disease (VHL) is a hereditary cancer syndrome with multifocal, bilateral cysts and solid tumors of the kidney. Surgical management may include multiple extirpative surgeries, which ultimately results in parenchymal volume loss and subsequent renal function decline. Recent studies have utilized parenchyma volume as an estimate of renal function prior to surgery for renal cell carcinoma; however, it is not yet validated for surgically altered kidneys with multifocal masses and complex cysts such as are present in VHL. Objective: We sought to validate a magnetic resonance imaging (MRI)-based volumetric analysis with mercaptoacetyltriglycine (MAG-3) renogram and postoperative renal function. Design setting and participants: We identified patients undergoing renal surgery at the National Cancer Institute from 2015 to 2020 with preoperative MRI. Renal tumors, cysts, and parenchyma of the operated kidney were segmented manually using ITK-SNAP software. Outcome measurements and statistical analysis: Serum creatinine and urinalysis were assessed preoperatively, and at 3- and 12-mo follow-up time points. Estimated glomerular filtration rate (eGFR) was calculated using serum creatinine-based CKD-EPI 2021 equation. A statistical analysis was conducted on R Studio version 4.1.1. Results and limitations: Preoperative MRI scans of 113 VHL patients (56% male, median age 48 yr) were evaluated between 2015 and 2021. Twelve (10.6%) patients had a solitary kidney at the time of surgery; 59 (52%) patients had at least one previous partial nephrectomy on the renal unit. Patients had a median of three (interquartile range [IQR]: 2-5) tumors and five (IQR: 0-13) cysts per kidney on imaging. The median preoperative GFR was 70 ml/min/1.73 m2 (IQR: 58-89). Preoperative split renal function derived from MAG-3 studies and MRI split renal volume were significantly correlated (r = 0.848, p < 0.001). On the multivariable analysis, total preoperative parenchymal volume, solitary kidney, and preoperative eGFR were significant independent predictors of 12-mo eGFR. When only considering patients with two kidneys undergoing partial nephrectomy, preoperative parenchymal volume and eGFR remained significant predictors of 12-mo eGFR. Conclusions: A parenchyma volume analysis on preoperative MRI correlates well with renogram split function and can predict long-term renal function with added benefit of anatomic detail and ease of application. Patient summary: Prior to kidney surgery, it is important to understand the contribution of each kidney to overall kidney function. Nuclear medicine scans are currently used to measure split kidney function. We demonstrated that kidney volumes on preoperative magnetic resonance imaging can also be used to estimate split kidney function before surgery, while also providing essential details of tumor and kidney anatomy.
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INTRODUCTION AND OBJECTIVE: Von Hippel-Lindau (VHL) is a hereditary cancer syndrome characterized by bilateral, multifocal renal masses. The cumulative impact of extirpative surgery can depreciate renal function and render patients anephric. In the larger end-stage renal disease population, renal transplant offers both excellent quality of life and functional renal replacement. This case control study aims to examine and compare oncologic and functional outcomes of patients who have undergone renal transplant as renal replacement therapy (RRT) to those who remain anephric. METHODS: Patient charts were retrospectively reviewed of patients with germline testing confirmed VHL between 1980 and 2022 for transplant, all prior surgical history (within and outside the NCI), renal function and graft outcomes. Overall survival (OS) was determined from years after radical nephrectomy, and graft time was defined as years of graft function from initial transplant until failure or patient death. Graft survival was determined as time between transplant(s) to last follow up. Kaplan-Meier analysis was conducted to compare graft times of anephric VHL patients to those with transplanted kidneys. RESULTS: A total of 23 VHLD patients were identified as either anephric or candidates for transplant. Out of this cohort, 11 total VHLD received 12 total kidney grafts. Median wait time from nephrectomy to transplant was 22.6 months (IQR: 1.02-40.25 months). Median age at transplant was 32 years (IQR: 23-54 years). OS at 5 and 10 years of anephric patients who did not receive a transplant was 33% and 16.7%, respectively. OS rates of the transplant cohort at 10, 15, and 20 years were 91%, 78%, and 58% years, respectively. Median graft time was 161 months (IQR: 56-214 months). Graft survival at 10, 15, and 20 years was 69.8%, 69.8%, and 26.2%, respectively. CONCLUSIONS: We demonstrate that transplant recipients have decreased mortality with no difference in cancer recurrence compared to those who do not receive renal transplant for RRT. This data can aid in informing providers of the optimal window for early RRT planning in VHL, while also improving patient counseling.
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Neoplasias Renales , Trasplante de Riñón , Enfermedad de von Hippel-Lindau , Humanos , Adulto Joven , Adulto , Persona de Mediana Edad , Enfermedad de von Hippel-Lindau/complicaciones , Enfermedad de von Hippel-Lindau/cirugía , Estudios de Casos y Controles , Estudios Retrospectivos , Calidad de Vida , Recurrencia Local de Neoplasia , Neoplasias Renales/cirugíaRESUMEN
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant condition characterized by the development of cutaneous and uterine leiomyomas and risk for development of an aggressive form of papillary renal cell cancer. HLRCC is caused by germline inactivating pathogenic variants in the fumarate hydratase (FH) gene, which encodes the enzyme that catalyzes the interconversion of fumarate and L-malate. We utilized enzyme and protein mobility assays to evaluate the FH enzyme in a cohort of patients who showed clinical manifestations of HLRCC but were negative for known pathogenic FH gene variants. FH enzyme activity and protein levels were decreased by 50% or greater in three family members, despite normal FH mRNA expression levels as measured by quantitative PCR. Direct Nanopore RNA sequencing demonstrated 57 base pairs of retained intron sequence between exons 9 and 10 of polyadenylated FH mRNA in these patients, resulting in a truncated FH protein. Genomic sequencing revealed a heterozygous intronic alteration of the FH gene (chr1: 241498239 T/C) resulting in formation of a splice acceptor site near a polypyrimidine tract, and a uterine fibroid obtained from a patient showed loss of heterozygosity at this site. The same intronic FH variant was identified in an unrelated patient who also showed a clinical phenotype of HLRCC. These data demonstrate that careful clinical assessment as well as biochemical characterization of FH enzyme activity, protein expression, direct RNA sequencing, and genomic DNA sequencing of patient-derived cells can identify pathogenic variants outside of the protein coding regions of the FH gene.
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Carcinoma de Células Renales , Neoplasias Renales , Leiomiomatosis , Neoplasias Cutáneas , Neoplasias Uterinas , Femenino , Humanos , Carcinoma de Células Renales/genética , Leiomiomatosis/genética , Leiomiomatosis/patología , Fumarato Hidratasa/genética , Fumarato Hidratasa/análisis , Neoplasias Renales/genética , Neoplasias Uterinas/genética , Neoplasias Uterinas/patología , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología , Mutación , ARN Mensajero/genéticaRESUMEN
OBJECTIVE: To characterize the clinical manifestations and genetic basis of a familial cancer syndrome in patients with lipomas and Birt-Hogg-Dubé-like clinical manifestations including fibrofolliculomas and trichodiscomas and kidney cancer. METHODS: Genomic analysis of blood and renal tumor DNA was performed. Inheritance pattern, phenotypic manifestations, and clinical and surgical management were documented. Cutaneous, subcutaneous, and renal tumor pathologic features were characterized. RESULTS: Affected individuals were found to be at risk for a highly penetrant and lethal form of bilateral, multifocal papillary renal cell carcinoma. Whole genome sequencing identified a germline pathogenic variant in PRDM10 (c.2029 T>C, p.Cys677Arg), which cosegregated with disease. PRDM10 loss of heterozygosity was identified in kidney tumors. PRDM10 was predicted to abrogate expression of FLCN, a transcriptional target of PRDM10, which was confirmed by tumor expression of GPNMB, a TFE3/TFEB target and downstream biomarker of FLCN loss. In addition, a sporadic papillary RCC from the TCGA cohort was identified with a somatic PRDM10 mutation. CONCLUSION: We identified a germline PRDM10 pathogenic variant in association with a highly penetrant, aggressive form of familial papillary RCC, lipomas, and fibrofolliculomas/trichodiscomas. PRDM10 loss of heterozygosity and elevated GPNMB expression in renal tumors indicate that PRDM10 alteration leads to reduced FLCN expression, driving TFE3-induced tumor formation. These findings suggest that individuals with Birt-Hogg-Dubé-like manifestations and subcutaneous lipomas, but without a germline pathogenic FLCN variant, should be screened for germline PRDM10 variants. Importantly, kidney tumors identified in patients with a pathogenic PRDM10 variant should be managed with surgical resection instead of active surveillance.
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Síndrome de Birt-Hogg-Dubé , Carcinoma de Células Renales , Neoplasias Renales , Lipoma , Neoplasias Cutáneas , Humanos , Carcinoma de Células Renales/complicaciones , Carcinoma de Células Renales/genética , Síndrome de Birt-Hogg-Dubé/complicaciones , Síndrome de Birt-Hogg-Dubé/genética , Síndrome de Birt-Hogg-Dubé/patología , Proteínas Proto-Oncogénicas/genética , Proteínas Proto-Oncogénicas/metabolismo , Neoplasias Renales/genética , Neoplasias Renales/patología , Lipoma/complicaciones , Lipoma/genética , Factores de Transcripción/genética , Factores de Transcripción Básicos con Cremalleras de Leucinas y Motivos Hélice-Asa-Hélice , Proteínas de Unión al ADN , Glicoproteínas de MembranaRESUMEN
The two primary nephron-sparing interventions for treating renal masses such as renal cell carcinoma are surgical partial nephrectomy (PN) and image-guided percutaneous thermal ablation. Nephron-sparing surgery, such as PN, has been the standard of care for treating many localized renal masses. Although uncommon, complications resulting from PN can range from asymptomatic and mild to symptomatic and life-threatening. These complications include vascular injuries such as hematoma, pseudoaneurysm, arteriovenous fistula, and/or renal ischemia; injury to the collecting system causing urinary leak; infection; and tumor recurrence. The incidence of complications after any nephron-sparing surgery depends on many factors, such as the proximity of the tumor to blood vessels or the collecting system, the skill or experience of the surgeon, and patient-specific factors. More recently, image-guided percutaneous renal ablation has emerged as a safe and effective treatment option for small renal tumors, with comparable oncologic outcomes to those of PN and a low incidence of major complications. Radiologists must be familiar with the imaging findings encountered after these surgical and image-guided procedures, especially those indicative of complications. The authors review cross-sectional imaging characteristics of complications after PN and image-guided thermal ablation of kidney tumors and highlight the respective management strategies, ranging from clinical observation to interventions such as angioembolization or repeat surgery. Work of the U.S. Government published under an exclusive license with the RSNA. Online supplemental material and the slide presentation from the RSNA Annual Meeting are available for this article. Quiz questions for this article are available in the Online Learning Center. See the invited commentary by Chung and Raman in this issue.
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Carcinoma de Células Renales , Neoplasias Renales , Humanos , Recurrencia Local de Neoplasia , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/cirugía , Nefronas/diagnóstico por imagen , Riñón , Carcinoma de Células Renales/diagnóstico por imagen , Carcinoma de Células Renales/cirugíaRESUMEN
BACKGROUND: The RENAL nephrometry score (RNS) is widely used to describe renal mass complexity and inform patient counseling for partial nephrectomy (PN). However, in cases with multiple tumors, it is unknown which features drive perioperative outcomes. OBJECTIVE: To employ a novel scoring equation (multiplex score [MS]) derived from RNS to assess outcomes of multiplex PN at our institution. DESIGN, SETTING, AND PARTICIPANTS: A total of 62 consecutive multiplex PN (median (range) # tumorsâ¯=â¯4(2-11), 65% robotic) were performed by a single surgeon. The MS was defined a priori as a weighted score derived from RNS (# low risk ([LR] lesions)â¯+â¯2*(# intermediate risk [IR])â¯+â¯4*(# high risk [HR]) based on published complication rates. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: MS was dichotomized into favorable/unfavorable based on median score. Patient outcomes were maintained prospectively. MS was compared with other potential RNS derived scoring systems. RESULTS AND LIMITATION: A total of 249 tumors were scored. Median (range) MS was 6(range 2-20, IQR 3-8). Complications occurred in 10 patients (16.1%). Only 1 complication occurred in the favorable MS(<6) group, and MS was associated with perioperative complication (Pâ¯=â¯0.02) and blood loss (P < .001). When compared to other potential scoring systems, MS had the best area under the curve (AUC) to predict operative complications (0.75). CONCLUSIONS: The novel MS was associated with complications and blood loss. This tool may facilitate standardized reporting of complexity for multiplex series, with special relevance for hereditary cancer syndromes. PATIENT SUMMARY: For patients who have one kidney tumor, there are established scoring systems to help patients and surgeons decide on the surgical plan. However currently, for patients with more than one renal tumor, there is no such scoring system. Here, we present the "Multiplex Score" to aid shared-decision-making in cases with more than one renal tumor.
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Neoplasias Renales , Procedimientos Quirúrgicos Robotizados , Robótica , Humanos , Estudios Retrospectivos , Nefrectomía/métodos , Riñón/patología , Neoplasias Renales/patología , Resultado del Tratamiento , Procedimientos Quirúrgicos Robotizados/métodosRESUMEN
BACKGROUND: von Hippel-Lindau syndrome (VHL) is an autosomal dominant hereditary syndrome with an increased predisposition of developing numerous cysts and tumors, almost exclusively clear cell renal cell carcinoma (ccRCC). Considering the lifelong surveillance in such patients to monitor the disease, patients with VHL are preferentially imaged using MRI to eliminate radiation exposure. PURPOSE: Segmentation of kidney and tumor structures on MRI in VHL patients is useful in lesion characterization (e.g., cyst vs. tumor), volumetric lesion analysis, and tumor growth prediction. However, automated tasks such as ccRCC segmentation on MRI is sparsely studied. We develop segmentation methodology for ccRCC on T1 weighted precontrast, corticomedullary, nephrogenic, and excretory contrast phase MRI. METHODS: We applied a new neural network approache using a novel differentiable decision forest, called hinge forest (HF), to segment kidney parenchyma, cyst, and ccRCC tumors in 117 images from 115 patients. This data set represented an unprecedented 504 ccRCCs with 1171 cystic lesions obtained at five different MRI scanners. The HF architecture was compared with U-Net on 10 randomized splits with 75% used for training and 25% used for testing. Both methods were trained with Adam using default parameters ( α = 0.001 , ß 1 = 0.9 , ß 2 = 0.999 $\alpha = 0.001,\ \beta _1 = 0.9,\ \beta _2 = 0.999$ ) over 1000 epochs. We further demonstrated some interpretability of our HF method by exploiting decision tree structure. RESULTS: The HF achieved an average kidney, cyst, and tumor Dice similarity coefficient (DSC) of 0.75 ± 0.03, 0.44 ± 0.05, 0.53 ± 0.04, respectively, while U-Net achieved an average kidney, cyst, and tumor DSC of 0.78 ± 0.02, 0.41 ± 0.04, 0.46 ± 0.05, respectively. The HF significantly outperformed U-Net on tumors while U-Net significantly outperformed HF when segmenting kidney parenchymas ( α < 0.01 $\alpha < 0.01$ ). CONCLUSIONS: For the task of ccRCC segmentation, the HF can offer better segmentation performance compared to the traditional U-Net architecture. The leaf maps can glean hints about deep learning features that might prove to be useful in other automated tasks such as tumor characterization.
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Carcinoma de Células Renales , Carcinoma , Quistes , Aprendizaje Profundo , Neoplasias Renales , Humanos , Carcinoma de Células Renales/diagnóstico por imagen , Imagen por Resonancia Magnética , Neoplasias Renales/diagnóstico por imagenRESUMEN
Birt-Hogg-Dubé (BHD) syndrome is an inherited familial cancer syndrome characterized by the development of cutaneous lesions, pulmonary cysts, renal tumors and cysts and caused by loss-of-function pathogenic variants in the gene encoding the tumor-suppressor protein folliculin (FLCN). FLCN acts as a negative regulator of TFEB and TFE3 transcription factors, master controllers of lysosomal biogenesis and autophagy, by enabling their phosphorylation by the mechanistic Target Of Rapamycin Complex 1 (mTORC1). We have previously shown that deletion of Tfeb rescued the renal cystic phenotype of kidney-specific Flcn KO mice. Using Flcn/Tfeb/Tfe3 double and triple KO mice, we now show that both Tfeb and Tfe3 contribute, in a differential and cooperative manner, to kidney cystogenesis. Remarkably, the analysis of BHD patient-derived tumor samples revealed increased activation of TFEB/TFE3-mediated transcriptional program and silencing either of the two genes rescued tumorigenesis in human BHD renal tumor cell line-derived xenografts (CDXs). Our findings demonstrate in disease-relevant models that both TFEB and TFE3 are key drivers of renal tumorigenesis and suggest novel therapeutic strategies based on the inhibition of these transcription factors.