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| http://dx.doi.org/10.1016/j.urology.2019.08.017 | DOI Listing |
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Evaluating the Urinary Exosome microRNA Profile of von Hippel Lindau Syndrome Patients with Clear Cell Renal Cell Carcinoma.
Genes (Basel)
July 2024
Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Introduction: Renal cell carcinoma is one of the ten more common malignant tumors worldwide, with a high incidence and mortality rate. Kidney cancer frequently presents at an advanced stage, and it is almost invariably fatal. Much progress has been made in identifying molecular targets for therapy in the hope of improving survival rates, but still, we have no good markers for early detection or progression of the disease.
View Article and Find Full Text PDFHereditary Renal Cancer Syndromes.
Med Sci (Basel)
February 2024
Department of Medical Genetics, Saint-Petersburg State Pediatric Medical University, 194100 Saint-Petersburg, Russia.
Familial kidney tumors represent a rare variety of hereditary cancer syndromes, although systematic gene sequencing studies revealed that as many as 5% of renal cell carcinomas (RCCs) are associated with germline pathogenic variants (PVs). Most instances of RCC predisposition are attributed to the loss-of-function mutations in tumor suppressor genes, which drive the malignant progression via somatic inactivation of the remaining allele. These syndromes almost always have extrarenal manifestations, for example, von Hippel-Lindau (VHL) disease, fumarate hydratase tumor predisposition syndrome (FHTPS), Birt-Hogg-Dubé (BHD) syndrome, tuberous sclerosis (TS), etc.
View Article and Find Full Text PDFRecurrent hematuria involving urinary system with Klippel-Trenaunay syndrome: A case report.
Medicine (Baltimore)
February 2024
Department of Urology, Affiliated Hospital of Shaoxing University, Shaoxing, Zhejiang, China.
Article Synopsis
- - Klippel-Trenaunay syndrome (KTS) is a rare condition related to mutations in the PIK3CA gene, characterized by skin pigmentation, varicose veins, and malformations in the lower limbs, potentially involving the urinary system and causing painless hematuria.
- - The case study discusses a hospitalized woman experiencing massive painless hematuria along with significant lower limb abnormalities, where she was diagnosed with KTS through various examinations like CT urography and cystoscopy.
- - Treatment for the patient included placement of D-J tubes and anti-inflammatory medication, resulting in significant improvement, with conservative management being effective for many KTS cases, while more invasive options are reserved for severe complications.
The kidney imaging surveillance scoring system (KISSS): using qualitative MRI features to predict growth rate of renal tumors in patients with von-Hippel Lindau (VHL) syndrome.
Abdom Radiol (NY)
February 2024
Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, 10 Center Drive, Bethesda, MD, 20892-1109, USA.
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.
von Hippel-Lindau disease-related neoplasia with an emphasis on renal manifestations.
Semin Diagn Pathol
January 2024
Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street, Southwest, Rochester, MN 55905, USA. Electronic address:
von Hippel-Lindau (VHL) disease is characterized by biallelic inactivation of the VHL gene leading to abnormal or absent VHL protein function, and constitutive activation of hypoxia-inducible factors (HIF) that leads to pro-tumorigenic signaling. Individuals with VHL disease develop numerous cysts and tumors involving multiple organs including the kidneys, central nervous system, endolymphatic sac, lungs, pancreatobiliary system, adrenal glands, epididymis, and/or broad ligament. On histologic examination, these lesions show morphologic overlap as they are frequently characterized by cells with clear cytoplasm and prominent vascularity.
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