Introduction: Definitive diagnosis of translocation renal cell carcinoma is challenging. We herein experienced a case of translocation(6;11) renal cell carcinoma, successfully diagnosed by using fluorescence in situ hybridization.
Case Presentation: During the follow-up of a 21-year-old man with Crohn's disease, computed tomography revealed a 40-mm mass in the right kidney. Since imaging could not exclude malignancy, needle biopsy was performed. The histological diagnosis from the biopsy specimen was renal cell carcinoma, but histological typing had not been done adequately. A laparoscopic partial nephrectomy was then performed. Transcription factor EB immunoreactivity was positive, transcription factor EB rearrangement was shown by break apart and fusion fluorescence in situ hybridization. As a result, a definitive diagnosis of t(6; 11) renal cell carcinoma was made. There has been no recurrence for 5 years.
Conclusion: Transcription factor EB immunohistochemistry and fluorescence in situ hybridization are useful diagnostic tools for renal tumors of young generation.
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http://dx.doi.org/10.1002/iju5.12353 | DOI Listing |
Sci Rep
December 2024
Division of Nephrology, Endocrinology and Metabolism, Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, ShinjukuKu, Tokyo, 1608582, Japan.
Trends Biotechnol
December 2024
Instituto Interuniversitario de Investigación de Reconocimiento Molecular y Desarrollo Tecnológico (IDM), Universitat Politècnica de València, Universitat de València, València, Spain; Departamento de Química, Universitat Politècnica de València, Camino de Vera s/n 46022, Valencia, Spain; CIBER de Bioingeniería Biomateriales y Nanomedicina (CIBER-BBN), Instituto de Salud Carlos III, 28029, Madrid, Spain; Unidad Mixta UPV-CIPF de Investigación en Mecanismos de Enfermedades y Nanomedicina, Valencia, Universitat Politècnica de València, Centro de Investigación Príncipe Felipe, Avenida Eduardo Primo Yúfera, 3, 46012, Valencia, Spain; Unidad Mixta de Investigación en Nanomedicina y Sensores, Universitat Politècnica de València, Instituto de Investigación Sanitaria La Fe (IISLAFE), Avenida Fernando Abril Martorell, 106, 46026, Valencia, Spain.
The demand for novel, minimally invasive, cost-effective, and easily readable diagnostic tools, primarily designed for the longitudinal monitoring of diseases and their treatments, has promoted the development of diagnostic systems that selectively target cells, tissues, or organs, at the same time minimizing their nonspecific accumulation, thus reducing the risk of toxicity and side effects. In this review, we explore the development of renal-clearable systems in non-invasive or minimally invasive detection protocols, all with the objective of minimizing nonspecific accumulation and its associated toxicity effects through quick renal excretion. These probes can identify molecules of interest or different healthy states of the patients through the direct analysis of urine (urinalysis).
View Article and Find Full Text PDFIn Vivo
December 2024
Department of Basic Medical Sciences, Laboratory of Biology, Medical School, National and Kapodistrian University of Athens, Athens, Greece;
Background/aim: Clear cell renal cell carcinoma (ccRCC) represents the most common type of renal cancer. When resectable, nephrectomy is the only radical treatment for ccRCC, however metastasis is already present at 30% of the patient population. Although great progress has been made in the field of targeted therapy with the emergence of immune checkpoint inhibitors (ICIs) the cure of metastatic ccRCC (mccRCC) remains far from achieved.
View Article and Find Full Text PDFAnticancer Res
January 2025
Department of Urology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Background/aim: Immuno-oncology (IO) improves the prognosis of advanced renal cell carcinoma (RCC). Since research has so far been limited to clinical trials, we herein focused on the effects of IO-tyrosine kinase inhibitor (TKI) combination therapy in real-world clinical settings.
Patients And Methods: We conducted a retrospective study on 125 patients with advanced RCC who received IO-TKI combination therapy or TKI monotherapy.
J Med Genet
December 2024
John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA
Introduction: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder classically associated with multiple basal cell carcinomas, odontogenic keratocysts and skeletal anomalies. However, its significant phenotypic heterogeneity often delays the diagnosis. Here, we undertake the first comprehensive characterisation of NBCCS and congenital urinary tract anomalies.
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