Gene expression analysis in peripheral blood cells of patients with hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC): identification of NRF2 pathway activation
AbstractHereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare disease that is inherited in an autosomal dominant manner. Affected patients may develop from cutaneous and uterine leiomyomas to type 2 papillary renal cell carcinoma (Schmidt and Linehan, Int J Nephrol Renovasc Dis 7:253 –260, 2014). HLRCC is caused by germline mutations in theFH gene, which produces the fumarate hydratase protein that participates in the tricarboxylic acid cycle during the conversion of fumarate to malate. InFH-deficient cells, high concentrations of fumarate lead to a series of intricate events, which seem to be responsible for the malignant transformation (Yang et al., J Clin Invest 123(9):3652 –3658, 2013) (Bardella et al., J Pathol 225(1):4–11, 2011). Among these events, one that is gaining attention is the pathological activation of the nuclear factor erythroid 2-related factor 2 (NRF2) pathway, which has been found in several types of cancer and is implicated in the expression of genes associated with antioxidant responses (Linehan and Rouault, Clin Cancer Res 19(13):3345 –3352, 2013). In this article, we present the results of a gene expression analysis performed on peripheral blood cells from patients with HLRCC syndrome, where upregulation of numerousNRF2 targets and the differential expression of two key genes, Jun dimerization protein 2 (JDP2) and Phosphoglycerate mutase family member 5 (PGAM5), which are involved in the control of thi...
Publication date: 15 February 2021Source: Journal of Hazardous Materials, Volume 404, Part BAuthor(s): Yanhua Liu, Yang Li, Shanshan Dong, Lu Han, Ruixin Guo, Yourong Fu, Shenghu Zhang, Jianqiu Chen
Authors: Musio F Abstract INTRODUCTION: Anemia has and will continue to be a central theme in medicine particularly as clinicians are treating a burgeoning population of complex multi-organ system processes. As a result of multiple randomized controlled trials (RCTs), meta-analyses, and societal recommendations overly restrictive paradigms and under-administration of erythropoiesis stimulating agents (ESAs) have likely been followed by clinicians among all specialties. AREAS COVERED: A review of anemia in the context of chronic kidney disease, hematologic malignancies and cancer is presented with focus on the e...
Publication date: January 2021Source: Urology Case Reports, Volume 34Author(s): Nina Al-Saadi, Safa Al-Musawi, Yousuf Khan, Daben Dawam
Publication date: Available online 10 October 2020Source: European UrologyAuthor(s): Stanley Weng, Renzo G. DiNatale, Andrew Silagy, Roy Mano, Kyrollis Attalla, Mahyar Kashani, Kate Weiss, Nicole E. Benfante, Andrew G. Winer, Jonathan A. Coleman, Victor E. Reuter, Paul Russo, Ed Reznik, Satish K. Tickoo, A. Ari Hakimi
Publication date: Available online 10 October 2020Source: Respiratory Medicine Case ReportsAuthor(s): Vipul Patel, Tilottama Majumdar, Isha Samreen, Harpreet Grewal, Thomas Kaleekal
Authors: Matti B, Zargar-Shoshtari K Abstract Prostate cancer represents a significant health burden worldwide. The cancer incidence had substantially increased since the introduction of prostate specific antigen (PSA) in cancer screening. This had led to considerable debates among health professionals and epidemiologists, since PSA as a screening tool seemed to be far from perfect. In New Zealand, the controversy was quite prominent in the last three decades, with some advocating the benefits of screening, while others concerned regarding the risk of harms. With the absence of an organised screening programme and ...
CONCLUSION: This study found that childhood cancer survivors in New Zealand had a high prevalence of developmental dental abnormalities and it identified potential risk factors related to their cancer treatment. Inequitable access to oral rehabilitation for this patient group argues for a mechanism for consistent improved access to publicly funded dental care across district health boards in New Zealand. PMID: 33032302 [PubMed - in process]
Authors: Zarrabi A, Mark S PMID: 33032299 [PubMed - in process]
We report a Colombian family with HLRCC syndrome, with a novel mutation inFH gene (c.1349_1352delATGA) in which cutaneous leiomyomas have not been found, but other clinical manifestations such as type 2- papillary renal cell carcinoma, uterine leiomyomas and rare tumors were present. This investigation constitutes the first report of HLRCC syndrome in Colombia, and probably in Latin America.