Aims: Mutation or promoter methylation of the phosphatase tensin homologue deleted on chromosome 10 tumour suppressor gene () promotes some cancers. Moreover, ( pseudogene) transcript regulates PTEN expression and is thought to be associated with tumourigenesis in some cancers. Here, we investigated PTEN expression in thymic epithelium and thymic epithelial tumours.
Methods: Immunohistochemical analysis of PTEN was performed on two non-tumourous thymus (NT) samples, 33 thymomas (three type A, eight type AB, 11 type B1, six type B2, and five type B3), and four thymic carcinomas (TCs). In 16 cases (two NT, three A, five B1, two B2, one B3 and three TC), analyses of mutations, promoter methylation and comparisons of mRNA and transcripts were undertaken using PCR-direct sequencing, methylation-specific PCR, and reverse-transcription real-time PCR after target cell collection with laser microdissection.
Results: PTEN protein was not immunohistochemically detected in NT epithelium or types B1 or B2 thymoma cells, but was expressed in type A thymoma and carcinoma cells. Neither mutations nor promoter methylation were detected in any samples. Statistical analysis revealed that mRNA expression was highest in NT epithelium and lowest in type A thymoma cells. transcript expression did not significantly differ among NT, thymoma and TC samples.
Conclusions: We speculated that NT epithelium and types B1/B2 thymoma cells have a mechanism of translation repression and/or acceleration of protein degradation, whereas type A thymoma cells exhibit transcriptional repression of mRNA and accelerated translation and/or protein accumulation.
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http://dx.doi.org/10.1136/jclinpath-2016-204220 | DOI Listing |
World J Surg
January 2025
Precision Medicine Program, Hoag Family Cancer Institute, Newport Beach, California, USA.
Background: A recent prospective phase II study (ECOG-ACRIN E2211) demonstrated that MGMT deficiency was associated with a significant response to capecitabine and temozolomide (CAPTEM) in pancreatic neuroendocrine neoplasms (NENs); however, routine MGMT analysis in NENs was not recommended. Our study sought to demonstrate whether loss of MGMT protein expression is associated with improved overall survival (OS) in patients receiving CAPTEM for NENs from various tumor sites.
Materials And Methods: Paraffin-embedded tumor samples were evaluated by immunohistochemistry (IHC) using an MGMT monoclonal antibody.
Hum Mol Genet
January 2025
Biomedical Research Centre, School of Biological Sciences, University of East Anglia, Norwich Research Park, Earlham Road, Norwich NR4 6PN, United Kingdom.
Genomic imprinting is the parent-of-origin dependent monoallelic expression of genes often associated with regions of germline-derived DNA methylation that are maintained as differentially methylated regions (gDMRs) in somatic tissues. This form of epigenetic regulation is highly conserved in mammals and is thought to have co-evolved with placentation. Tissue-specific gDMRs have been identified in human placenta, suggesting that species-specific imprinting dependent on unorthodox epigenetic establishment or maintenance may be more widespread than previously anticipated.
View Article and Find Full Text PDFOncogene
January 2025
Early Cancer Institute, Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK.
Clear cell renal cell carcinoma (ccRCC) is characterised by significant genetic heterogeneity, which has diagnostic and prognostic implications. Very limited evidence is available regarding DNA methylation heterogeneity. We therefore generate sequence level DNA methylation data on 136 multi-region tumour and normal kidney tissue from 18 ccRCC patients, along with matched whole exome sequencing (85 samples) and gene expression (47 samples) data on a subset of samples.
View Article and Find Full Text PDFMetabolism
January 2025
Institute of Hypertension, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, China; Department of Pathophysiology, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, China. Electronic address:
Epithelial sodium channel (ENaC), located in the collecting duct principal cells of the kidney, is responsible for the reabsorption of sodium and plays a critical role in the regulation of extracellular fluid volume and consequently blood pressure. The G protein-coupled bile acid receptor (TGR5) is a membrane receptor mediating effects of bile acid and is implicated in kidney diseases. The current study aims to investigate whether TGR5 activation in the kidney regulated ENaC expression and potential mechanism.
View Article and Find Full Text PDFAm J Transl Res
December 2024
Department of Emergency Medical Services, Faculty of Health Sciences AlQunfudah, Umm Al-Qura University Mekkah, Saudi Arabia.
Background: Liver Hepatocellular Carcinoma (LIHC) is a prevalent and aggressive liver cancer with limited therapeutic options. Identifying key genes involved in LIHC can enhance our understanding of its molecular mechanisms and aid in the development of targeted therapies. This study aims to identify differentially expressed genes (DEGs) and key hub genes in LIHC using bioinformatics approaches and experimental validation.
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