Introduction: In Lynch syndrome, urothelial cancer is the third most common cancer, following colorectal and endometrial cancers. Little is known, however, about the efficacy of immune checkpoint inhibitors in the treatment of metastatic urothelial cancer in Lynch syndrome.
Case Presentation: A 49-year-old patient with metastatic urothelial cancer underwent pembrolizumab therapy after platinum-containing chemotherapy. The efficacy of the pembrolizumab therapy was good. Her lung and bone metastatic lesions disappeared in imaging studies and her back pain decreased dramatically. Pathogenic mutations of and were found in the DNA extracted from her tumor, and subsequent genetic analysis confirmed the germline pathogenic variant of As such, this case was genetically diagnosed as Lynch syndrome.
Conclusion: We report metastatic urothelial cancer in a patient with Lynch syndrome who demonstrated a radiological complete response to pembrolizumab therapy. Accurate genetic diagnosis can provide useful information to both the patient and their relatives.
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http://dx.doi.org/10.1002/iju5.12542 | DOI Listing |
Investig Clin Urol
January 2025
Department of Urology, Chungbuk National University Hospital, Cheongju, Korea.
Purpose: To describe the incidence and mortality of upper tract urothelial carcinoma (UTUC) from 2002-2020 using data from the Korean National Health Insurance Service, which contains data from the entire Korean population.
Materials And Methods: Reimbursement records for 43,255 patients diagnosed with primary UTUC (according to the International Classification of Disease 10th revision code C65 and C66) between 2002-2020 were retrieved. The study period was split into four: period I (2002-2005), period II (2006-2010), period III (2011-2015), and period IV (2016-2020).
Cureus
December 2024
Radiology, Fernandez Hospital, Hyderabad, IND.
Urological malignancies during pregnancy are exceedingly rare, with bladder cancer posing significant diagnostic and management challenges. This study describes a 28-year-old pregnant woman diagnosed with non-invasive papillary urothelial carcinoma, presenting with painless hematuria at 22 weeks of gestation. The diagnostic process included ultrasound and MRI, both of which confirmed a solitary polypoidal lesion.
View Article and Find Full Text PDFiScience
January 2025
Department of Biology, University of Copenhagen, 2100 Copenhagen, Denmark.
Chromothripsis, a hallmark of cancer, is characterized by extensive and localized DNA rearrangements involving one or a few chromosomes. However, its genome-wide frequency and characteristics in urothelial carcinoma (UC) remain largely unknown. Here, by analyzing single-regional and multi-regional whole-genome sequencing (WGS), we present the chromothripsis blueprint in 488 UC patients.
View Article and Find Full Text PDFFuture Oncol
January 2025
Department of Urology, Charité Universitätsmedizin Berlin, Berlin, Germany.
Introduction: The treatment landscape of metastatic urothelial carcinoma (mUC) has evolved with the emergence of programmed cell death protein 1/ligand 1 (PD-1/L1) inhibitors. This study assessed mUC treatment patterns in Europe.
Methods: Data were derived from the Adelphi mUC Disease Specific Programme™ (November 2020 to April 2021), a large, cross-sectional, patient record-based survey of physicians in France, Germany, Italy, Spain, and the United Kingdom.
J Racial Ethn Health Disparities
January 2025
Cancer Prognostics and Health Outcomes Unit, Division of Urology, University of Montréal Health Center, Montréal, Québec, Canada.
Objective: To test whether race/ethnicity affects stage or grade distribution at upper tract urothelial carcinoma (UTUC) diagnosis.
Methods: Within the Surveillance, Epidemiology, and End Results (SEER) database 2004-2020, UTUC patients were identified. Multivariable logistic regression models tested for the association between race/ethnicity and stage as well as grade at diagnosis according to renal pelvis vs.
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