A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease.

von Hippel-Lindau (VHL) is an autosomal-dominant hereditary tumour susceptibility disease associated with pathogenic germline variants in the tumour suppressor gene. VHL patients are at increased risk of developing multiple benign and malignant tumours. Current CLIA-based genetic tests demonstrate a very high detection rate of germline variants in patients with clinical manifestations of VHL.

Using YOLO v7 to Detect Kidney in Magnetic Resonance Imaging.

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.

A Prospective Study of the Diagnostic Performance of Photon-Counting CT Compared With MRI in the Characterization of Renal Masses.

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.

Non-Invasive Tumor Grade Evaluation in Von Hippel-Lindau-Associated Clear Cell Renal Cell Carcinoma: A Magnetic Resonance Imaging-Based Study.

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.

Preoperative Renal Parenchyma Volume as a Predictor of Kidney Function Following Nephrectomy of Complex Renal Masses.

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.

Deep learning-based decision forest for hereditary clear cell renal cell carcinoma segmentation on MRI.

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.

Differential VHL Mutation Patterns in Bilateral Clear Cell RCC Distinguishes Between Independent Primary Tumors and Contralateral Metastatic Disease.

Objective: To evaluate whether bilateral, multifocal clear cell renal cell carcinoma (ccRCC) patients can be differentiated by VHL mutation analysis into cases that represent either multiple independently arising primary tumors, or a single primary tumor which has spread ipsilaterally as well as to the contralateral kidney. The nature of kidney cancer multifocality outside of known hereditary syndromes is as yet poorly understood.

Materials And Methods: DNA from multiple tumors per patient were evaluated for somatic VHL gene mutation and hypermethylation.

A deep-learning based artificial intelligence (AI) approach for differentiation of clear cell renal cell carcinoma from oncocytoma on multi-phasic MRI.

Purpose: To investigate the diagnostic performance of a deep convolutional neural network for differentiation of clear cell renal cell carcinoma (ccRCC) from renal oncocytoma.

Methods: In this retrospective study, 74 patients (49 male, mean age 59.3) with 243 renal masses (203 ccRCC and 40 oncocytoma) that had undergone MR imaging 6 months prior to pathologic confirmation of the lesions were included.

Update on Hereditary Renal Cancer and Imaging Implications.

Up to 8% of renal cancers are thought to have a hereditary component. Several hereditary renal cancer syndromes have been identified over the last few decades. It is important for the radiologist to be aware of findings associated with hereditary renal cancer syndromes to detect tumors early, enroll patients in appropriate surveillance programs, and improve outcomes for the patient and affected family members.

Growth Rates of Genetically Defined Renal Tumors: Implications for Active Surveillance and Intervention.

Purpose: Published series of growth rates of renal tumors on active surveillance largely consist of tumors without pathologic or genetic data. Growth kinetics of genetically defined renal tumors are not well known. Here, we evaluate the growth of genetically defined renal tumors and their association with patient clinical and genetic characteristics.

Imaging findings of hereditary renal tumors, a review of what the radiologist should know.

It is estimated that up to 8% of currently diagnosed renal cancers are part of a hereditary syndrome. The radiologist may be the first person to associate a renal tumor presenting during an imaging study to other manifestations of a hereditary syndrome. This diagnosis can have broad implications for the patient but also for other family members.

Differentiating papillary type I RCC from clear cell RCC and oncocytoma: application of whole-lesion volumetric ADC measurement.

Purpose: To determine whether objective volumetric whole-lesion apparent diffusion coefficient (ADC) distribution analysis improves upon the capabilities of conventional subjective small region-of-interest (ROI) ADC measurements for prediction of renal cell carcinoma (RCC) subtype.

Methods: This IRB-approved study retrospectively enrolled 55 patients (152 tumors). Diffusion-weighted imaging DWI was acquired at b values of 0, 250, and 800 s/mm on a 1.

The ABCs of BHD: An In-Depth Review of Birt-Hogg-Dubé Syndrome.

Objective: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant inherited syndrome involving multiple organs. In young patients, renal neoplasms that are multiple, bilateral, or both, such as oncocytomas, chromophobe renal cell carcinoma (RCC), hybrid chromophobe RCC-oncocytomas, clear cell RCC, and papillary RCC, can suggest BHD syndrome. Extrarenal findings, including dermal lesions, pulmonary cysts, and spontaneous pneumothoraces, also aid in diagnosis.

Automated noninvasive classification of renal cancer on multiphase CT.

Purpose: To explore the added value of the shape of renal lesions for classifying renal neoplasms. To investigate the potential of computer-aided analysis of contrast-enhanced computed-tomography (CT) to quantify and classify renal lesions.

Methods: A computer-aided clinical tool based on adaptive level sets was employed to analyze 125 renal lesions from contrast-enhanced abdominal CT studies of 43 patients.

RENAL TUMOR QUANTIFICATION AND CLASSIFICATION IN TRIPLE-PHASE CONTRAST-ENHANCED ABDOMINAL CT.

It is estimated that a quarter of a million people in the USA are living with kidney cancer. In clinical practice, the response to treatment is monitored by manual measurements of tumor size, which are time consuming and show high intra- and inter-operator variability. We propose a computer-assisted radiology tool to assess renal tumors in contrast-enhanced CT for the management of tumor diagnoses and treatments.

Computer-aided renal cancer quantification and classification from contrast-enhanced CT via histograms of curvature-related features.

In clinical practice, renal cancer diagnosis is performed by manual quantifications of tumor size and enhancement, which are time consuming and show high variability. We propose a computer-assisted clinical tool to assess and classify renal tumors in contrast-enhanced CT for the management and classification of kidney tumors. The quantification of lesions used level-sets and a statistical refinement step to adapt to the shape of the lesions.

Renal Tumor Quantification and Classification in Contrast-Enhanced Abdominal CT.

Kidney cancer occurs in both a hereditary (inherited) and sporadic (non-inherited) form. It is estimated that almost a quarter of a million people in the USA are living with kidney cancer and their number increases with 51,000 diagnosed with the disease every year. In clinical practice, the response to treatment is monitored by manual measurements of tumor size, which are 2D, do not reflect the 3D geometry and enhancement of tumors, and show high intra- and inter-operator variability.