Objectives: The objective of the study was to determine the effect of variant histology on pathological outcomes and survival in patients operated for the upper urinary tract urothelial carcinoma (UTUC).
Methods: Data of 128 patients who were operated for UTUC between 2001 and 2019 were retrospectively analyzed. Patients with pure urothelial carcinoma and patients with variant histology were compared in terms of demographics, pathological outcomes, and survival.
Results: The mean age of the patients was 65±11 years, female to male ratio was 30/98 and median follow-up period was 26.5 (1-176) months. Variant histology was detected in 14.8% of patients. Variant histology was found to be associated with surgical margin positivity, lymph node metastasis, presence of lymphovascular invasion, high tumor stage and grade (p=0.001, p=0.012, p=0.001, p=0.002, and p=0.009, respectively). Three-year cancer-specific and overall survival rates were 79.6% and 77.3%, respectively. There was no statistically significant relationship between variant histology with cancer-specific and overall survival (p=0.514 and p=0.515, respectively).
Conclusion: Variant histology of UTUC was found to be associated with locally advanced disease, but its effect on survival could not be demonstrated.
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http://dx.doi.org/10.14744/SEMB.2021.23427 | DOI Listing |
Mol Genet Genomic Med
January 2025
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: X-linked intellectual disability (XLID) is a genetically heterogeneous disorder that results in cognitive impairment and developmental delays. Mutations in the KDM5C gene have been identified as a causative factor in XLID. This study aimed to identify novel variants associated with XLID and to investigate the clinical and genetic characteristics of XLID patients with mutations in the KDM5C gene.
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January 2025
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.
Background: Leber congenital amaurosis (LCA), the most severe form of inherited retinal dystrophy, is a rare, heterogeneous, genetic eye disease associated with severe congenital visual impairment. RPE65, one of the causative genes for LCA, encodes retinoid isomerohydrolase, an enzyme that plays a critical role in regenerating visual pigment in photoreceptor cells.
Methods: Exome sequencing (ES) was performed on a patient with suspected LCA.
Int J Urol
January 2025
Department of Urology, School of Medicine, Ankara University, Ankara, Turkey.
Objectives: To evaluate the role of neoadjuvant chemotherapy in the final treatment plan and its impact on survival in bladder cancer patients who were diagnosed with variant histology in the radical cystectomy specimen and whose diagnostic accuracy was achieved with the previous transurethral resection of the bladder specimen.
Methods: In this retrospective multicenter study, data from 221 patients across 9 centers were analyzed between January 2012 and January 2022. The primary endpoint was overall, cancer-specific, recurrence-free, and metastasis-free survival rates among patients with and without neoadjuvant chemotherapy, and the secondary endpoint was to identify independent predictors of survival.
J Transl Med
January 2025
Fujian-Macao Science and Technology Cooperation Base of Traditional Chinese Medicine-Oriented Chronic Disease Prevention and Treatment, Academy of Integrative Medicine, Fujian University of Traditional Chinese Medicine, Fuzhou, 350001, China.
Background: Death-Associated Protein Kinase 1 (DAPK1) family members are calcium/calmodulin-regulated serine/threonine kinases implicated in cell death, normal development, and human diseases. However, the regulation of DAPK1 expression in cancer remains unclear.
Methods: We examined the expression and functional impact of a DAPK1 splice variant, DAPK1-215, in multiple cancer cell lines.
Medicine (Baltimore)
January 2025
Department of Anesthesiology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Rationale: Quadricuspid aortic valve (QAV) is a rare condition with a very low incidence. Anomalous aortic origin of a coronary artery (AAOCA) is the most prevalent form of coronary anomaly. One variant of AAOCA is the anomalous aortic origin of the left coronary artery from the right coronary sinus (L-AAOCA).
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