Klaudia Hives Holeckova, Mark Hives, Marian Grendar, Henrieta Blahusiak Drobkova, Jan Kliment
{"title":"斯洛伐克转移性抗阉割前列腺癌患者样本中 TP53、RB1 和 PTEN 的基因变异。","authors":"Klaudia Hives Holeckova, Mark Hives, Marian Grendar, Henrieta Blahusiak Drobkova, Jan Kliment","doi":"10.21873/invivo.13737","DOIUrl":null,"url":null,"abstract":"<p><strong>Background/aim: </strong>This report aimed to present identified variants with pathogenic potential in three genes - TP53, PTEN, and RB1 - in a selected sample of patients with metastatic castration-resistant prostate cancer (mCRPC) with or without the presence of circulating tumor cells (CTCs) and splice variant AR-V7.</p><p><strong>Materials and methods: </strong>Next generation sequencing was performed on an Illumina platform to analyse the genetic profiles of 50 patients with mCRPC. Identified variants were validated using the Integrative Genomic Viewer, and the correlation between these variants and the presence of CTC/AR-V7 was subjected to statistical analysis.</p><p><strong>Results: </strong>The study revealed a total of 15 genetic alterations in the three examined genes. The presence of rs1042522 (TP53) in mCRPC patients was associated with a significantly reduced likelihood of AR-V7 occurrence (p<0.001), indicating a protective effect. Additionally, patients with AR-V7 showed a marked increase in prostate-specific antigen (PSA) levels. Higher PSA levels were correlated with an increased risk of AR-V7 presence.</p><p><strong>Conclusion: </strong>The identified genetic mutations and PSA levels have a moderate predictive ability for determining AR-V7 status.</p>","PeriodicalId":13364,"journal":{"name":"In vivo","volume":"38 6","pages":"2610-2616"},"PeriodicalIF":1.8000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11535959/pdf/","citationCount":"0","resultStr":"{\"title\":\"Genetic Variations in <i>TP53, RB1</i>, and <i>PTEN</i> in a Selected Sample of Slovak Patients With Metastatic Castration-resistant Prostate Cancer.\",\"authors\":\"Klaudia Hives Holeckova, Mark Hives, Marian Grendar, Henrieta Blahusiak Drobkova, Jan Kliment\",\"doi\":\"10.21873/invivo.13737\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background/aim: </strong>This report aimed to present identified variants with pathogenic potential in three genes - TP53, PTEN, and RB1 - in a selected sample of patients with metastatic castration-resistant prostate cancer (mCRPC) with or without the presence of circulating tumor cells (CTCs) and splice variant AR-V7.</p><p><strong>Materials and methods: </strong>Next generation sequencing was performed on an Illumina platform to analyse the genetic profiles of 50 patients with mCRPC. Identified variants were validated using the Integrative Genomic Viewer, and the correlation between these variants and the presence of CTC/AR-V7 was subjected to statistical analysis.</p><p><strong>Results: </strong>The study revealed a total of 15 genetic alterations in the three examined genes. The presence of rs1042522 (TP53) in mCRPC patients was associated with a significantly reduced likelihood of AR-V7 occurrence (p<0.001), indicating a protective effect. Additionally, patients with AR-V7 showed a marked increase in prostate-specific antigen (PSA) levels. Higher PSA levels were correlated with an increased risk of AR-V7 presence.</p><p><strong>Conclusion: </strong>The identified genetic mutations and PSA levels have a moderate predictive ability for determining AR-V7 status.</p>\",\"PeriodicalId\":13364,\"journal\":{\"name\":\"In vivo\",\"volume\":\"38 6\",\"pages\":\"2610-2616\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2024-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11535959/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"In vivo\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.21873/invivo.13737\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, RESEARCH & EXPERIMENTAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"In vivo","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.21873/invivo.13737","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}
Genetic Variations in TP53, RB1, and PTEN in a Selected Sample of Slovak Patients With Metastatic Castration-resistant Prostate Cancer.
Background/aim: This report aimed to present identified variants with pathogenic potential in three genes - TP53, PTEN, and RB1 - in a selected sample of patients with metastatic castration-resistant prostate cancer (mCRPC) with or without the presence of circulating tumor cells (CTCs) and splice variant AR-V7.
Materials and methods: Next generation sequencing was performed on an Illumina platform to analyse the genetic profiles of 50 patients with mCRPC. Identified variants were validated using the Integrative Genomic Viewer, and the correlation between these variants and the presence of CTC/AR-V7 was subjected to statistical analysis.
Results: The study revealed a total of 15 genetic alterations in the three examined genes. The presence of rs1042522 (TP53) in mCRPC patients was associated with a significantly reduced likelihood of AR-V7 occurrence (p<0.001), indicating a protective effect. Additionally, patients with AR-V7 showed a marked increase in prostate-specific antigen (PSA) levels. Higher PSA levels were correlated with an increased risk of AR-V7 presence.
Conclusion: The identified genetic mutations and PSA levels have a moderate predictive ability for determining AR-V7 status.
期刊介绍：
IN VIVO is an international peer-reviewed journal designed to bring together original high quality works and reviews on experimental and clinical biomedical research within the frames of physiology, pathology and disease management.
The topics of IN VIVO include: 1. Experimental development and application of new diagnostic and therapeutic procedures; 2. Pharmacological and toxicological evaluation of new drugs, drug combinations and drug delivery systems; 3. Clinical trials; 4. Development and characterization of models of biomedical research; 5. Cancer diagnosis and treatment; 6. Immunotherapy and vaccines; 7. Radiotherapy, Imaging; 8. Tissue engineering, Regenerative medicine; 9. Carcinogenesis.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
