Cancer Genetics最新文献

{"title":"Ewing sarcoma of the rib with a rare PTEN mutation","authors":"Panagiota Fallon ,&nbsp;Anna Boulouta ,&nbsp;Constantina Papacharalambous ,&nbsp;Anastasios Kyriazoglou ,&nbsp;Panagiotis J. Vlachostergios","doi":"10.1016/j.cancergen.2025.04.003","DOIUrl":"10.1016/j.cancergen.2025.04.003","url":null,"abstract":"<div><h3>Background</h3><div>Rib involvement in Ewing sarcoma (ES) is very rare (3–5 %) and may often lead to unique presentations due to mass effect within the thorax. Molecular studies may sometimes offer insights into disease prognosis and possible targeted treatment approaches.</div></div><div><h3>Case Presentation</h3><div>Here we present the case of a 39-year-old female who presented with shortness of breath from a massive primary tumor in the right rib and lung. She was diagnosed with ES, which was confirmed by the presence of EWSR1/FLI-1 rearrangement and received multimodal therapy with neoadjuvant VDC-IE (vincristine-doxorubicin-cyclophosphamide, and ifosfamide-etoposide) followed by surgical excision after partial response, and adjuvant chemoradiation. Unfortunately, the patient experienced histologically confirmed local and distant recurrence after several months. NGS of the recurrent tumor revealed a pathogenic <em>PTEN</em> c.640C&gt;<em>T</em>(p.Q214*) nonsense variant with a very high variant allele frequency (VAF) of 82.6 % but negative germline assessment. She received several lines of chemotherapy but only demonstrated a short response to the oral multi-tyrosine kinase inhibitor cabozantinib before eventually passing away.</div></div><div><h3>Conclusions</h3><div><em>PTEN</em> mutations in ES, although rare, may result in a higher likelihood of chemotherapy resistance and poor prognosis. Clinical studies targeting specific molecular traits of these tumors, such as <em>PTEN</em> inactivation, could help improve outcomes in selected cases.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"294 ","pages":"Pages 90-93"},"PeriodicalIF":1.4,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143834079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Regulator of G-protein signaling 14 (RGS14) promotes cancer growth in hepatocellular carcinoma","authors":"Yi Ran ,&nbsp;Liping Li ,&nbsp;Zhihua Wang ,&nbsp;Ting Sun ,&nbsp;Cong Wen ,&nbsp;Yixin Zhang ,&nbsp;Shu Wang ,&nbsp;Shishi Jiang ,&nbsp;Junjie Zheng ,&nbsp;Changjun Yin ,&nbsp;Chuankai Zhang","doi":"10.1016/j.cancergen.2025.04.002","DOIUrl":"10.1016/j.cancergen.2025.04.002","url":null,"abstract":"<div><h3>Background</h3><div>Hepatocellular carcinoma (HCC) is a major contributor to cancer-related deaths globally. The progression of HCC is influenced by a range of intrinsic and extrinsic factors, necessitating further research into the molecular mechanisms involved. While Regulator of G-protein Signaling 14 (RGS14) has shown emerging roles in cancer biology, its function in HCC remains poorly characterized.</div></div><div><h3>Materials and methods</h3><div>RGS14 expression and clinical significance were analyzed using TCGA-LIHC, HCCDB, and GEO datasets. Immunofluorescence (IF) staining was employed to validate protein expression. Functional assays, including cell proliferation, migration, invasion, and <em>in vivo</em> xenograft models, were conducted to assess the oncogenic role of RGS14. Bulk-mRNA sequencing was performed using <em>in situ</em> tumor tissues to identify RGS14-regulated pathways.</div></div><div><h3>Results</h3><div>RGS14 was significantly upregulated in HCC tissues and positively associated with poor patient outcomes. <em>In vitro</em> experiments demonstrated that RGS14 enhanced HCC cell proliferation, migration, and invasion, while <em>in vivo</em> studies confirmed its tumor-promoting effects. Mechanistically, RGS14 activated the extracellular matrix (ECM)-receptor interaction pathway to drive HCC progression.</div></div><div><h3>Conclusion</h3><div>Our findings suggest that RGS14 could serve as a novel prognostic marker and therapeutic target for HCC, contributing to improved treatment strategies.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"294 ","pages":"Pages 80-89"},"PeriodicalIF":1.4,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143834078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analytical validation of the Belay Vantage™ assay for evaluation of MGMT promoter methylation using enzymatically converted tumorDNA from cerebrospinal fluid","authors":"Kala F Schilter ,&nbsp;Qian Nie ,&nbsp;Jennifer N Adams,&nbsp;Rakshitha Jagadish,&nbsp;Anthony Acevedo,&nbsp;Alexandra Larson,&nbsp;Samantha A Vo,&nbsp;Brett A Domagala,&nbsp;Kyle M Hernandez,&nbsp;Christopher Douville,&nbsp;Yuxuan Wang,&nbsp;Brian Coe,&nbsp;Chetan Bettegowda,&nbsp;Honey V Reddi","doi":"10.1016/j.cancergen.2025.04.001","DOIUrl":"10.1016/j.cancergen.2025.04.001","url":null,"abstract":"<div><div><em>MGMT</em> promoter methylation status (hypermethylation) is one of the strongest prognostic and predictive biomarkers in glioblastoma (GBM) and is associated with a more favorable response to alkylating chemotherapies such as Temozolomide (TMZ). Additionally, it is associated with pseudo progression in GBM, a phenomenon in which early radiographic changes after treatment are indicative of possible tumor recurrence though on histological examination it is consistent with treatment effect. Current methods for evaluation of <em>MGMT</em> promoter methylation status are limited to tumor tissue, requiring invasive biopsy or surgery, prompting the need for a liquid biopsy-based assay to expand and manage therapeutic interventions. The Belay Vantage™ assay evaluates <em>MGMT</em> promoter methylation status in cerebrospinal fluid (CSF) of individuals with known or suspected central nervous system tumors using low input DNA. The assay uses quantitative polymerase chain reaction (qPCR) on DNA extracted from CSF after enzymatic conversion and has an analytical sensitivity of 95% and specificity of 100%.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"294 ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143839098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Study on the correlation between BRCA1 gene polymorphism and hrHPV infection in cervical precancerous lesions","authors":"Dongling He ,&nbsp;Qing Lv ,&nbsp;Bin Li ,&nbsp;Min Xu ,&nbsp;Dewen Jiang ,&nbsp;Zhi Tang ,&nbsp;Yanjie Liu","doi":"10.1016/j.cancergen.2025.03.007","DOIUrl":"10.1016/j.cancergen.2025.03.007","url":null,"abstract":"<div><div>Cervical squamous intraepithelial lesions are precancerous lesions caused by high-risk subtypes of human papillomavirus (HPV). The development and prognosis of these lesions may be impacted by host genetics. Sanger sequencing was applied to sequence the breast cancer susceptibility gene (BRCA1) exons in exfoliated cervical cells. Fifteen single nucleotide polymorphisms (SNPs) were identified in the entire exon of BRCA1. It was found that there were 8 missense mutations, 1 nonsense mutation, 4 synonymous mutations, and 2 mutations not located in the protein-coding regions. Functional prediction of BRCA1 missense and synonymous mutation sites was performed using PolyPhen-2, ESEFinder3.0, and SIFT online software. The rs39812263 alteration in the BRCA1 gene was found to be significantly different by the sequencing. A significant difference was observed in the alterations of BRCA1 gene rs398122630 between hrHPV and thin- prep cytology test (TCT) groups (<em>p</em> &lt; 0.05), a negative correlation was observed with both hrHPV and TCT. The genotype and allele frequencies of the BRCA1 gene rs398122630 were significantly different from those of the control group (<em>p</em> &lt; 0.05). Rs398122630 may play a protective role in the progression of cervical cancer. This site is a nonsense mutation, which may lead to the premature termination of protein translation. Subsequently, we queried the Gene Expression Omnibus (GEO) and found that the expression of BRCA1 gene RNA gradually increased in cervical normal epithelium, high-grade cervical intraepithelial neoplasia (CIN), and cervical squamous cell carcinoma (CSCC).</div><div>Lentiviral vectors were used to construct stable cell lines with BRCA1 (breast cancer susceptibility gene 1) knockout and overexpression. The scratch healing rate of HeLa cells with BRCA1 knockout was significantly higher than that of the negative control group (<em>P</em> &lt; 0.05), while the difference in scratch healing rate in the overexpression group was not statistically significant. Compared to the control group, the proportion of cells in the G1 phase increased in the BRCA1 downregulated group (KD1), while the proportion of cells in the G1 phase decreased in the overexpression group (<em>P</em> &lt; 0.05). The percentage of cells in the S phase decreased in the downregulated group compared to the control group (<em>P</em> &lt; 0.05), and the proportion of cells in the G2 phase increased in the overexpression group compared to the control group (<em>P</em> &lt; 0.05), BRCA1 may be involved in the migration and cell cycle of HeLa cells.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"294 ","pages":"Pages 99-110"},"PeriodicalIF":1.4,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143839099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Immune prognostic model for glioblastoma based on the ssGSEA enrichment score","authors":"Takanari Okamoto ,&nbsp;Ryo Mizuta ,&nbsp;Ayako Demachi-Okamura ,&nbsp;Daisuke Muraoka ,&nbsp;Eiichi Sasaki ,&nbsp;Katsuhiro Masago ,&nbsp;Rui Yamaguchi ,&nbsp;Satoshi Teramukai ,&nbsp;Yoshihiro Otani ,&nbsp;Isao Date ,&nbsp;Shota Tanaka ,&nbsp;Yoshinobu Takahashi ,&nbsp;Naoya Hashimoto ,&nbsp;Hirokazu Matsushita","doi":"10.1016/j.cancergen.2025.03.005","DOIUrl":"10.1016/j.cancergen.2025.03.005","url":null,"abstract":"<div><h3>Purpose</h3><div>Few effective immune prognostic models based on the tumor immune microenvironment (TIME) for glioblastoma have been reported. Therefore, this study aimed to construct an immune prognostic model for glioblastoma by analyzing enriched biological processes and pathways in tumors.</div></div><div><h3>Methods</h3><div>A comprehensive single-sample gene set enrichment analysis (ssGSEA) of gene sets from the Molecular Signatures Database was performed using TCGA RNA sequencing data (141 glioblastoma cases). After evaluating gene sets associated with prognosis using univariable Cox regression, gene sets related to biological processes and tumor immunity in gliomas were extracted. Finally, the least absolute shrinkage and selection operator Cox regression refined the gene sets and a nomogram was constructed. The model was validated using CGGA (183 cases) and Aichi Cancer Center (42 cases) datasets.</div></div><div><h3>Results</h3><div>The immune prognostic model consisted of three gene sets related to biological processes (sphingolipids, steroid hormones, and intermediate filaments) and one related to tumor immunity (immunosuppressive chemokine pathways involving tumor-associated microglia and macrophages). Kaplan-Meier curves for the training (TCGA) and validation (CGGA) cohorts showed significantly worse overall survival in the high-risk group compared to the low-risk group (<em>p</em> &lt; 0.001 and <em>p</em> = 0.04, respectively). Furthermore, in silico cytometry revealed a significant increase in macrophages with immunosuppressive properties and T cells with effector functions in the high-risk group (<em>p</em> &lt; 0.01) across all cohorts.</div></div><div><h3>Conclusion</h3><div>Construction of an immune prognostic model based on the TIME assessment using ssGSEA could potentially provide valuable insights into the prognosis and immune profiles of patients with glioblastoma and guide treatment strategies.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"294 ","pages":"Pages 32-41"},"PeriodicalIF":1.4,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143681123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mutation status in yes-associated protein 1 (YAP1) in an insulinoma cell line Rin-5F","authors":"Takayoshi Kiba","doi":"10.1016/j.cancergen.2025.03.006","DOIUrl":"10.1016/j.cancergen.2025.03.006","url":null,"abstract":"<div><div>Previous research indicates that <em>YAP1</em> mutations may enhance responses to immune checkpoint inhibitors, and this mutation could serve as a novel predictor of response to immunotherapy across various cancers by increasing mutation counts. The insulin-secreting pancreatic cell line Rin-5F is commonly used in pharmacological and toxicological studies. In the present study, the author has examined mutations in the <em>YAP1</em> gene using genomic DNA and complementary DNA from Rin-5F cells. No mutations in the <em>YAP1</em> gene were identified in the current investigation. The status of the <em>YAP1</em> gene in an insulinoma cell line has not been previously documented. According to previous research, <em>YAP1</em> mutations may be associated with enhanced responses to immune checkpoint inhibitors. Given that there is no mutation of the <em>YAP1</em> gene in this insulinoma cell line, it is possible that immune checkpoint inhibitors may have a reduced impact on insulinoma. To address this question, further clinical trials of immune checkpoint inhibitors are needed for neuroendocrine tumors, such as insulinomas.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"294 ","pages":"Pages 76-79"},"PeriodicalIF":1.4,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143734758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of new immune target and signaling for cancer immunotherapy","authors":"Sakshi Narote,&nbsp;Sharav A. Desai,&nbsp;Vipul P. Patel,&nbsp;Rutuja Deshmukh,&nbsp;Nikita Raut,&nbsp;Sejal Dapse","doi":"10.1016/j.cancergen.2025.03.004","DOIUrl":"10.1016/j.cancergen.2025.03.004","url":null,"abstract":"<div><div>Immunotherapy has become one of the innovative treatments in malignancy as it activates the immune system to find and eliminate malignant cells. The tumor immunology interface has become increasingly intricate, making the identification of new immune targets and signalling pathways on which to base improved therapeutic strategies an ongoing process. This review, we goal to clarify the contacts between cancer and immune system with a focus on immune surveillance as well as immune evasion mechanisms. Comprehensive immunotherapeutic therapies are overviewed with ICI (CTLA-4, PD-1, PD-L1), CAR-T cell therapy, and cancer vaccines whereas, advanced therapies targeting new immune checkpoints are also elucidated including TIM-3, LAG-3, and TIGIT. The JAK/STAT, MAPK and PI3K-AKT-mTOR pathways are reviewed with regards to cancer progression and immunotherapeutic resistance. The dysregulation of these pathways gives hope for the identification of fresh targets for therapy. Genomics, proteomics, immunopeptidomics, single cell mass spectrometry, CRISPR-based functional genomics and bioinformatics are described as essential for immune target identification and for mapping of cancer relevant signaling pathways. This review also considers some emerging issues in the subject area like the tumor heterogeneity, immune-related adverse events (irAEs), and personalized treatment. These barriers are described to facilitate the understanding of ways to overcome them and increase the efficacy of immunotherapies through combination therapies. This means that by developing new knowledge of immunological targets and pathways, immunoprecision medicine for cancer could greatly enhance outcomes.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"294 ","pages":"Pages 57-75"},"PeriodicalIF":1.4,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704634","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic testing referral and germline pathogenic variants in patients with breast cancer and another non-breast cancer","authors":"Rachel Hodan ,&nbsp;Victor Ritter ,&nbsp;Summer Han ,&nbsp;Shilpa Narayan ,&nbsp;Mina Satoyoshi ,&nbsp;Allison W. Kurian","doi":"10.1016/j.cancergen.2025.03.003","DOIUrl":"10.1016/j.cancergen.2025.03.003","url":null,"abstract":"<div><h3>Background</h3><div>Guidelines recommend germline genetic testing for specific combinations of primary cancers and ages of diagnoses, but do not recommend testing for all patients with multiple primary cancers (MPC). Patients with breast cancer are more likely to receive genetic testing. Here, we evaluated whether a first breast cancer was more likely than another first cancer type to prompt testing referral.</div></div><div><h3>Methods</h3><div>Using Oncoshare, a breast cancer research database of medical records and the California Cancer Registry, we identified female patients with MPC diagnosed January 2000-June 2023 with breast cancer as either the first or second cancer and seen at Stanford Health Care. We analyzed genetic testing rates after first versus second cancer diagnosis and the yield of pathogenic variants (PV). We evaluated the association between the receipt of genetic testing and timing of breast cancer (1st or 2nd), using univariate and multivariable logistic regression adjusted for age at first diagnosis, race/ethnicity, and time between first and second diagnoses.</div></div><div><h3>Results</h3><div>1,069 patients met eligibility criteria; 75 % were non-Hispanic white, and 73 % had breast as the first cancer. 342 (32 %) patients had testing, of which 113 (33 %) had at least one PV. Patients with first breast cancer had a trend toward higher testing rate, (OR 1.62, 95 % CI 0.9–3.0), <em>p</em> = 0.11.</div></div><div><h3>Conclusion</h3><div>Using a breast cancer research database, MPC patients showed a trend toward being more likely to receive genetic testing when breast cancer preceded another cancer. High yield for a germline pathogenic variant suggests that all MPC patients should have cancer genetics risk assessment.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"294 ","pages":"Pages 42-46"},"PeriodicalIF":1.4,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143681124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"HSP110 T17 marker matches the pentaplex panel and outperforms CAT-25 for detecting microsatellite instability in sporadic colorectal cancer","authors":"Nasreddine Rajoua ,&nbsp;Antoine Daunay ,&nbsp;Wissem Triki ,&nbsp;Oussema Baraket ,&nbsp;Sami Bouchoucha ,&nbsp;Houcine Maghrebi ,&nbsp;Aymen Mabrouk ,&nbsp;Jean-François Deleuze ,&nbsp;Alexandre How-Kit ,&nbsp;Maher Kharrat","doi":"10.1016/j.cancergen.2025.03.002","DOIUrl":"10.1016/j.cancergen.2025.03.002","url":null,"abstract":"<div><div>Microsatellite instability (MSI) is an important biomarker in colorectal cancer (CRC), influencing prognosis and treatment decisions. While conventional MSI detection typically relies on the pentaplex panel, newer markers like HSP110 T17 (HT-17) and CAT-25 may offer simpler, more cost-effective alternatives. This study aimed to assess the effectiveness of HT-17 and CAT-25 for detecting MSI in sporadic CRC and to explore any links between MSI status and clinicopathological features. A total of 96 Tunisian sporadic CRC patients were included, with MSI status evaluated using HT-17, CAT-25, and the refined mononucleotide repeat pentaplex panel through microsatellite genotyping. Clinicopathological data, such as tumor location and age at diagnosis, were also analyzed for associations with MSI. Among the 96 patients, 9 (9.38%) showed MSI, while 87 were microsatellite stable (MSS). HT-17 demonstrated 100% accuracy and sensitivity, matching the pentaplex panel's performance, while CAT-25 showed limited detection ability. MSI status was significantly linked to tumors in the proximal colon and, unexpectedly, to younger patients (&lt;50 years old). HT-17 proved to be a reliable MSI marker in CRC, offering equivalent performance to the pentaplex panel, with the added advantages of simplicity and cost efficiency. The associations between MSI, tumor location, and younger age at diagnosis may provide valuable insights into CRC biology and clinical management. Further studies with larger cohorts are needed to validate HT-17′ s clinical potential, with the goal of improving personalized treatment strategies and prognostic accuracy for CRC patients.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"294 ","pages":"Pages 21-26"},"PeriodicalIF":1.4,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143580291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biological landscape of human papilloma virus-related head and neck cancer according to virus genotype","authors":"Katsuhiro Masago ,&nbsp;Hiromasa Ishihara ,&nbsp;Hiroaki Kuroda ,&nbsp;Eiichi Sasaki ,&nbsp;Yasuko Fujita ,&nbsp;Shiro Fujita ,&nbsp;Yoshitsugu Horio ,&nbsp;Michi Sawabe ,&nbsp;Shintaro Beppu ,&nbsp;Daisuke Nishikawa ,&nbsp;Hoshino Terada ,&nbsp;Toshihiro Kishikawa ,&nbsp;Hidenori Suzuki ,&nbsp;Hirofumi Shibata ,&nbsp;Takenori Ogawa ,&nbsp;Nobuhiro Hanai ,&nbsp;Hirokazu Matsushita","doi":"10.1016/j.cancergen.2025.02.010","DOIUrl":"10.1016/j.cancergen.2025.02.010","url":null,"abstract":"<div><div>Human papillomavirus (HPV), particularly strains 16 and 18, contributes to oropharyngeal squamous cell carcinoma (OPSCC), even in non-smokers and non-drinkers. This study investigated gene expression variations in HPV-positive OPSCCs according to the virus genotype. An RNA sequencing analysis of 36 p16-positive OPSCC patients revealed distinct expression patterns between tumors with only E6/E7 transcripts (E6E7) and those with additional E5 transcripts (E5-added). The E6E7 group displayed activation of FOS-related pathways and the NF-κB signaling pathway. Notably, the genes associated with tumor growth and cancer antigens differed between the groups. These findings suggest that the presence of HPV E5 might influence the transformation stages and gene expression, potentially affecting patient outcomes. The E5-added group expressed multiple cancer-associated antigens, presenting potential targets for personalized immunotherapy approaches for HPV-positive OPSCC.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"294 ","pages":"Pages 27-31"},"PeriodicalIF":1.4,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143580190","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}