{"title":"Role of SERPINA1 in the tumor immune microenvironment of breast cancer and construction of a prognostic model.","authors":"Xiaolin Xia, Jiaqi Liu, Jine Liu, Shuai Chen, Zhou Chen","doi":"10.1007/s12672-026-04555-7","DOIUrl":"https://doi.org/10.1007/s12672-026-04555-7","url":null,"abstract":"","PeriodicalId":11148,"journal":{"name":"Discover. Oncology","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146124119","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}
Pub Date : 2026-02-05DOI: 10.1007/s12672-026-04451-0
Hui Gao, YanDan Lan, LiQiong Lv, Hui Liu
{"title":"CCL19 and CCR6 as diagnostic biomarkers for differentiating phyllodes tumors from breast fibroadenomas: a machine learning-driven approach integrating EMT biology.","authors":"Hui Gao, YanDan Lan, LiQiong Lv, Hui Liu","doi":"10.1007/s12672-026-04451-0","DOIUrl":"https://doi.org/10.1007/s12672-026-04451-0","url":null,"abstract":"","PeriodicalId":11148,"journal":{"name":"Discover. Oncology","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146118095","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}
<p><strong>Background: </strong>Alzheimer's disease (AD) and cancer are among the most prevalent age-related diseases. Despite previous research into their potential relationship, the nature of their association remains poorly understood. This study aims to examine the clinical characteristics of AD and various cancers using data from the Surveillance, Epidemiology, and End Results (SEER) database, investigate the causal relationship between AD and cancers through Mendelian randomization (MR) analysis, and identify potential shared underlying mechanisms through transcriptomic profiling.</p><p><strong>Methods: </strong>Clinical data from AD patients were retrieved from the Surveillance, Epidemiology, and End Results (SEER) database, and survival analysis was conducted using Kaplan-Meier curves. For the two-sample Mendelian randomization (MR) analysis, data were obtained from genome-wide association study (GWAS) databases. Multiple MR approaches, including inverse-variance weighted, MR-Egger, and weighted median methods, were applied, along with assessments of heterogeneity and sensitivity to ensure the robustness and reliability of the results. Transcriptomic data for AD, colorectal cancer (CRC), and breast cancer (BC) were downloaded from the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) were identified through differential expression analysis, followed by functional enrichment analysis using Gene Ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis.</p><p><strong>Results: </strong>A total of 42,768 cancer patients who died from AD were included from the SEER database. Survival analysis revealed a more favorable prognosis (p < 0.01) in patients younger than 65 years. Asian or Pacific Islander patients exhibited better survival outcomes compared with White patients. Regarding tumor sites, patients with uterine corpus cancer had the best prognosis, while lung cancer patients had the poorest outcomes. Patients who received surgery, radiotherapy, or chemotherapy showed significantly improved survival compared to those who received no cancer treatment. Higher household income and being married were also associated with better prognosis, although no significant difference was observed by gender. MR analysis demonstrated a significant positive causal relationship between AD and CRC, and a weak inverse relationship between AD and BC, suggesting that increased genetic susceptibility to AD is associated with elevated CRC risk and reduced BC risk. Intersection analysis of DEGs revealed that shared DEGs between AD and BC were enriched in GO terms related to amino acid transport regulation, organic acid transport regulation, positive regulation of vesicle docking, and myo-inositol transmembrane import. Shared DEGs between AD and CRC were enriched in presynaptic actin cytoskeleton organization, proteasome ubiquitin-independent protein catabolic process, negative regulation of cellular amide metab
背景：阿尔茨海默病（AD）和癌症是最常见的年龄相关疾病。尽管之前对它们之间的潜在关系进行了研究，但它们之间联系的本质仍然知之甚少。本研究旨在利用监测、流行病学和最终结果（SEER）数据库的数据研究AD和各种癌症的临床特征，通过孟德尔随机化（MR）分析研究AD和癌症之间的因果关系，并通过转录组学分析确定潜在的共同潜在机制。方法：从监测、流行病学和最终结果（SEER）数据库中检索AD患者的临床资料，采用Kaplan-Meier曲线进行生存分析。对于双样本孟德尔随机化（MR）分析，数据来自全基因组关联研究（GWAS）数据库。采用了多种MR方法，包括反方差加权、MR- egger和加权中位数方法，并对异质性和敏感性进行了评估，以确保结果的稳健性和可靠性。从Gene Expression Omnibus （GEO）数据库下载AD、结直肠癌（CRC）和乳腺癌（BC）的转录组数据。通过差异表达分析鉴定差异表达基因（DEGs），然后使用基因本体（GO）和京都基因与基因组百科全书（KEGG）途径分析进行功能富集分析。结果：SEER数据库共纳入42,768例死于AD的癌症患者。结论：我们的研究显示，死于AD的癌症患者存在显著的亚组异质性。MR分析表明，AD增加了结直肠癌的风险，但没有证据表明AD降低了BC的风险。这些关联可能由氨基酸运输调节、肌醇跨膜输入和突触囊泡循环等机制介导。这些发现为ad与癌症的关系提供了新的视角，并可能指导未来对共同机制的研究。
{"title":"Exploring the relationship between Alzheimer's disease and colorectal/breast cancers using SEER database, Mendelian randomization, and transcriptomic data.","authors":"Zeyu Li, Xinyu Wang, Minghao Li, Genghui Zhang, Ye Zhang, Xuning Wang, Cheng Zhang","doi":"10.1007/s12672-025-04136-0","DOIUrl":"https://doi.org/10.1007/s12672-025-04136-0","url":null,"abstract":"<p><strong>Background: </strong>Alzheimer's disease (AD) and cancer are among the most prevalent age-related diseases. Despite previous research into their potential relationship, the nature of their association remains poorly understood. This study aims to examine the clinical characteristics of AD and various cancers using data from the Surveillance, Epidemiology, and End Results (SEER) database, investigate the causal relationship between AD and cancers through Mendelian randomization (MR) analysis, and identify potential shared underlying mechanisms through transcriptomic profiling.</p><p><strong>Methods: </strong>Clinical data from AD patients were retrieved from the Surveillance, Epidemiology, and End Results (SEER) database, and survival analysis was conducted using Kaplan-Meier curves. For the two-sample Mendelian randomization (MR) analysis, data were obtained from genome-wide association study (GWAS) databases. Multiple MR approaches, including inverse-variance weighted, MR-Egger, and weighted median methods, were applied, along with assessments of heterogeneity and sensitivity to ensure the robustness and reliability of the results. Transcriptomic data for AD, colorectal cancer (CRC), and breast cancer (BC) were downloaded from the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) were identified through differential expression analysis, followed by functional enrichment analysis using Gene Ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis.</p><p><strong>Results: </strong>A total of 42,768 cancer patients who died from AD were included from the SEER database. Survival analysis revealed a more favorable prognosis (p < 0.01) in patients younger than 65 years. Asian or Pacific Islander patients exhibited better survival outcomes compared with White patients. Regarding tumor sites, patients with uterine corpus cancer had the best prognosis, while lung cancer patients had the poorest outcomes. Patients who received surgery, radiotherapy, or chemotherapy showed significantly improved survival compared to those who received no cancer treatment. Higher household income and being married were also associated with better prognosis, although no significant difference was observed by gender. MR analysis demonstrated a significant positive causal relationship between AD and CRC, and a weak inverse relationship between AD and BC, suggesting that increased genetic susceptibility to AD is associated with elevated CRC risk and reduced BC risk. Intersection analysis of DEGs revealed that shared DEGs between AD and BC were enriched in GO terms related to amino acid transport regulation, organic acid transport regulation, positive regulation of vesicle docking, and myo-inositol transmembrane import. Shared DEGs between AD and CRC were enriched in presynaptic actin cytoskeleton organization, proteasome ubiquitin-independent protein catabolic process, negative regulation of cellular amide metab","PeriodicalId":11148,"journal":{"name":"Discover. Oncology","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146124032","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}
Pub Date : 2026-02-05DOI: 10.1007/s12672-026-04566-4
Na-Mei Li, Hai-Peng Cheng, Peng Zhou, Xiao-Hong Li
{"title":"Analysis of DNA mismatch repair and microsatellite instability in molecular typing of endometrial carcinoma.","authors":"Na-Mei Li, Hai-Peng Cheng, Peng Zhou, Xiao-Hong Li","doi":"10.1007/s12672-026-04566-4","DOIUrl":"https://doi.org/10.1007/s12672-026-04566-4","url":null,"abstract":"","PeriodicalId":11148,"journal":{"name":"Discover. Oncology","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146124007","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}
Pub Date : 2026-02-04DOI: 10.1007/s12672-026-04549-5
Xiao-Yan Zhou, Xing-Ju Zhou
Tumorigenesis and progression are driven by dysregulated genes and signaling pathways, with cellular metabolic reprogramming being a hallmark that supports neoplastic growth. Alanyl-tRNA Synthetase 1 (AARS1), a key enzyme with dual roles in metabolism and gene expression regulation, has emerged as a critical focus in cancer and disease research. As a member of the aminoacyl-tRNA synthetase (AARS) family, AARS1 canonically catalyzes the attachment of alanine to its cognate transfer RNA (tRNA) to ensure fidelity in protein synthesis. Emerging evidence reveals non-canonical roles of AARS1 in tumor biology, including regulation of metabolic reprogramming, cell proliferation, apoptosis, and intracellular signal sensing-all of which directly impact tumor growth and patient prognosis. Beyond cancer, dysregulated AARS1 (via abnormal expression or pathogenic mutations) is linked to a spectrum of non-malignant disorders, including Charcot-Marie-Tooth (CMT) disease (a hereditary peripheral neuropathy), adult-onset leukoencephalopathy, recurrent acute liver failure, and sulfide dysplasia. These associations arise from disrupted cellular homeostasis and impaired physiological functions caused by AARS1-mediated pathway dysregulation. Notably, AARS1's ability to sense lactate and catalyze lysine lactylation-a newly identified post-translational modification (PTM)-represents a novel mechanism linking metabolic dysregulation to disease pathogenesis. Dysregulated AARS1 contributes to tumor initiation, progression, metastasis, and treatment resistance, while its mutations drive the onset of several neurodegenerative and metabolic disorders. Unraveling the molecular mechanisms of AARS1, particularly its lactylation-related functions, will deepen our understanding of cellular metabolism in disease and identify novel therapeutic targets for precise diagnosis and treatment of tumors and other disorders. Furthermore, AARS1 holds significant promise as a diagnostic biomarker and therapeutic target, offering new avenues for precision medicine in both oncology and non-malignant conditions.
{"title":"The role of Alanyl-tRNA synthetase 1 lactylation in tumors and other diseases.","authors":"Xiao-Yan Zhou, Xing-Ju Zhou","doi":"10.1007/s12672-026-04549-5","DOIUrl":"https://doi.org/10.1007/s12672-026-04549-5","url":null,"abstract":"<p><p>Tumorigenesis and progression are driven by dysregulated genes and signaling pathways, with cellular metabolic reprogramming being a hallmark that supports neoplastic growth. Alanyl-tRNA Synthetase 1 (AARS1), a key enzyme with dual roles in metabolism and gene expression regulation, has emerged as a critical focus in cancer and disease research. As a member of the aminoacyl-tRNA synthetase (AARS) family, AARS1 canonically catalyzes the attachment of alanine to its cognate transfer RNA (tRNA) to ensure fidelity in protein synthesis. Emerging evidence reveals non-canonical roles of AARS1 in tumor biology, including regulation of metabolic reprogramming, cell proliferation, apoptosis, and intracellular signal sensing-all of which directly impact tumor growth and patient prognosis. Beyond cancer, dysregulated AARS1 (via abnormal expression or pathogenic mutations) is linked to a spectrum of non-malignant disorders, including Charcot-Marie-Tooth (CMT) disease (a hereditary peripheral neuropathy), adult-onset leukoencephalopathy, recurrent acute liver failure, and sulfide dysplasia. These associations arise from disrupted cellular homeostasis and impaired physiological functions caused by AARS1-mediated pathway dysregulation. Notably, AARS1's ability to sense lactate and catalyze lysine lactylation-a newly identified post-translational modification (PTM)-represents a novel mechanism linking metabolic dysregulation to disease pathogenesis. Dysregulated AARS1 contributes to tumor initiation, progression, metastasis, and treatment resistance, while its mutations drive the onset of several neurodegenerative and metabolic disorders. Unraveling the molecular mechanisms of AARS1, particularly its lactylation-related functions, will deepen our understanding of cellular metabolism in disease and identify novel therapeutic targets for precise diagnosis and treatment of tumors and other disorders. Furthermore, AARS1 holds significant promise as a diagnostic biomarker and therapeutic target, offering new avenues for precision medicine in both oncology and non-malignant conditions.</p>","PeriodicalId":11148,"journal":{"name":"Discover. Oncology","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146118204","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}
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