(Objective) To determine whether the plakin family proteins periplakin, desmoplakin, plectin, and envoplakin could be markers of urothelial carcinoma of the upper urinary tract. (Materials and methods) Fifty-seven surgical specimens were obtained from patients with urothelial carcinoma of the upper urinary tract, who were admitted to the Jikei University Hospital between April 2000 and December 2005. The expression of plakin family proteins in cancerous and normal tissues was investigated using immunohistochemistry, and its association with clinicopathological parameters was analyzed. (Results) The expression of periplakin, envoplakin, and desmoplakin was significantly lower in cancerous tissue than in normal urothelium (P < 0.0001, P < 0.0001, and P < 0.0001, respectively). Strong desmoplakin expression in cancerous tissue was significantly associated with poor cancer-specific survival and overall survival (P = 0.023 and P = 0.034, respectively, compared with cancerous tissue with slight or less desmoplakin expression). Furthermore, strong plectin expression was significantly associated with poor metastasis-free survival (P = 0.034, compared with cancerous tissue with slight or less plectin expression). (Conclusion) Plakin family, particularly desmoplakin was suggested to be a prognostic marker of urothelial carcinoma of the upper urinary tract.
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http://dx.doi.org/10.5980/jpnjurol.108.87 | DOI Listing |
Cancers (Basel)
December 2024
Fiona Elsey Cancer Research Institute, Ballarat, VIC 3353, Australia.
Epithelial ovarian cancer is aggressive and causes high mortality among women worldwide. Members of the plakin family are essential to maintain cytoskeletal integrity and key cellular processes. In this study we characterised the expression of plakins, particularly plectin (PLEC), periplakin (PPL), envoplakin (EVPL), and EMT-related proteins by immunohistochemistry in n = 48 patients' samples to evaluate a potential correlation of plakin expression with EMT as EOC progresses.
View Article and Find Full Text PDFBMC Cardiovasc Disord
August 2024
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Background: Arrhythmogenic cardiomyopathy (ACM) characterized by progressive myocardial loss and replacement with fibro-fatty tissue is a major cause of sudden cardiac death (SCD). In particular, ACM with predominantly left ventricular involvement, known as arrhythmogenic left ventricular cardiomyopathy (ALVC), has a poor prognosis.
Methods: The proband underwent whole-exome sequencing (WES) to determine the etiology of ALVC.
Clin Genet
December 2024
Division of Gastroenterology and Hepatology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
Plectin is a cytoskeletal linker of intermediate filaments, encoded by the PLEC gene. Recently, plectin mutations have been identified in a pair of siblings with progressive familial intrahepatic cholestasis. Here, we reported two unrelated infants with plectinopathy causing cholestatic jaundice with novel variants in the PLEC gene.
View Article and Find Full Text PDFAm J Med Genet A
November 2024
Clinical Genetics Service Unit, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR.
Inherited cardiovascular conditions are significant causes of sudden cardiac death in the young (SCDY), making their investigation using molecular autopsy and prevention a public health priority. However, the molecular autopsy data in Chinese population is lacking. The 5-year result (2017-2021) of molecular autopsy services provided for victims of SCDY (age 1-40 years) was reviewed.
View Article and Find Full Text PDFInt J Mol Sci
June 2024
National Biobank of Thailand, National Center for Genetic Engineering and Biotechnology (BIOTEC), Pathum Thani 12120, Thailand.
Congenital insensitivity to pain is a rare human condition in which affected individuals do not experience pain throughout their lives. This study aimed to identify the molecular etiology of congenital insensitivity to pain in two Thai patients. Clinical, radiographic, histopathologic, immunohistochemical, and molecular studies were performed.
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