BMC Cancer最新文献

{"title":"DNMT1 blocks SOX21-repressed CKS2 transcription to promote gastric cancer progression.","authors":"Jie Wei, Song Xue, Xinglong Du, Yuanfei Dai, Yuting Ji, Guangsi He","doi":"10.1186/s12885-025-14577-z","DOIUrl":"10.1186/s12885-025-14577-z","url":null,"abstract":"","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"25 1","pages":"1182"},"PeriodicalIF":3.4,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12273269/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144658390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An end-to-end interpretable machine-learning-based framework for early-stage diagnosis of gallbladder cancer using multi-modality medical data.","authors":"Huiyu Zhao, Chuang Miao, Yidi Zhu, Yijun Shu, Xiangsong Wu, Ziming Yin, Xiao Deng, Wei Gong, Ziyi Yang, Weiwen Zou","doi":"10.1186/s12885-025-14462-9","DOIUrl":"10.1186/s12885-025-14462-9","url":null,"abstract":"<p><strong>Background: </strong>The accurate early-stage diagnosis of gallbladder cancer (GBC) is regarded as one of the major challenges in the field of oncology. However, few studies have focused on the comprehensive classification of GBC based on multiple modalities. This study aims to develop a comprehensive diagnostic framework for GBC based on both imaging and non-imaging medical data.</p><p><strong>Methods: </strong>This retrospective study reviewed 298 clinical patients with gallbladder disease or volunteers from two devices. A novel end-to-end interpretable diagnostic framework for GBC is proposed to handle multiple medical modalities, including CT imaging, demographics, tumor markers, coagulation function tests, and routine blood tests. To achieve better feature extraction and fusion of the imaging modality, a novel global-hybrid-local network, namely GHL-Net, has also been developed. The ensemble learning strategy is employed to fuse multi-modality data and obtain the final classification result. In addition, two interpretable methods are applied to help clinicians understand the model-based decisions. Model performance was evaluated through accuracy, precision, specificity, sensitivity, F1-score, area under the curve (AUC), and matthews correlation coefficient (MCC).</p><p><strong>Results: </strong>In both binary and multi-class classification scenarios, the proposed method showed better performance compared to other comparison methods in both datasets. Especially in the binary classification scenario, the proposed method achieved the highest accuracy, sensitivity, specificity, precision, F1-score, ROC-AUC, PR-AUC, and MCC of 95.24%, 93.55%, 96.87%, 96.67%, 95.08%, 0.9591, 0.9636, and 0.9051, respectively. The visualization results obtained based on the interpretable methods also demonstrated a high clinical relevance of the intermediate decision-making processes. Ablation studies then provided an in-depth understanding of our methodology.</p><p><strong>Conclusion: </strong>The machine learning-based framework can effectively improve the accuracy of GBC diagnosis and is expected to have a more significant impact in other cancer diagnosis scenarios.</p>","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"25 1","pages":"1178"},"PeriodicalIF":3.4,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12265321/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144648545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A retrospective case series at a tertiary hospital in china: ultrasonographic features of Struma ovarii.","authors":"Yanan Feng, Yanjie Chen, Qiong Wu, Zhenghao Bao, Chunping Ning, Cheng Zhao","doi":"10.1186/s12885-025-14606-x","DOIUrl":"10.1186/s12885-025-14606-x","url":null,"abstract":"<p><strong>Objective: </strong>Although struma ovarii (SO) is mostly benign, it is frequently overtreated due to challenges in differentiating it from malignant tumors. Therefore, the purpose of this study was to investigate the clinical, laboratory, ultrasonographic, and pathological characteristics of SO to improve the accuracy of preoperative diagnosis.</p><p><strong>Methods: </strong>We retrospectively reviewed the clinical data and imaging characteristics of 103 patients with postoperative pathology for SO at the Affiliated Hospital of Qingdao University from May 2013 to November 2023.</p><p><strong>Results: </strong>Among the 103 patients diagnosed with SO, 95 were benign SO (median age: 44.9 years (range, 15-83 years)) and 8 were malignant struma ovarii (MSO) (49.6 years (range, 15-83 years)), malignant cases accounted for 7.8% of the cohort. No statistically significant difference was observed in the median age between patients with benign SO and those with MSO (p = 0.346). Approximately 52.4% of SO patients had an increase in CA125, while CEA, AFP, HE4 and CA199 were basically within the normal range, and these markers had no clinical significance. The ultrasound manifestations were mostly cystic masses or predominantly cystic-solid masses (78/98), and 18 cases were solid masses or predominantly solid-cystic masses. Two patients showed negative results on ultrasound examination and was discovered during another gynecological surgery. Most of the masses are completely separated and multilocular, most with smooth outer margins. Nearly one-half of the masses have punctate or short-line echoes with comet tails, papillary protrusions can be seen on the inner wall of some lesions, and there is usually no blood flow inside the tumor or only a few dotted blood flow signals (79/96). Among the 6 patients with MSO which have ultrasound imaging, 4 patients showed a multilocular cystic mass on ultrasound, with poor sound echo in the cystic part, and 2 patients showed a solid mass on ultrasound with abundant blood flow signals. Immunohistochemistry results showed positive expression rates for thyroid transcription factor-1 (TTF-1) (96%, 24/25), thyroglobulin (TG) (90.5%, 19/21), PAX8 (94.7%, 18/19), and Ki-67 (100% 16/16), though Ki-67 expression levels were generally low, with 15 cases < 5% and 1 case at 50%.</p><p><strong>Conclusion: </strong>Ultrasonographic features-including multilocular cystic-solid masses with septations, hyperechoic \"pearl signs,\" and comet-tail artifacts-may raise suspicion for SO. However, differentiating between benign and malignant cases remains challenging due to significant imaging overlap. A multimodal diagnostic approach incorporating clinical presentation, laboratory findings, and histopathological evaluation is essential for accurate diagnosis and optimal management.</p>","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"25 1","pages":"1180"},"PeriodicalIF":3.4,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12269209/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144648544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Duration of hepatic portal occlusion is a valuable predictor for postoperative nausea and vomiting in patients underwent liver resection for liver cancer.","authors":"Xiao Chen, Wen Juan Zhao, Jingxian Yu, Haiying Zhou, Yinghong Shi, Jian Gao, Yuxia Zhang","doi":"10.1186/s12885-025-14592-0","DOIUrl":"10.1186/s12885-025-14592-0","url":null,"abstract":"<p><strong>Background: </strong>Postoperative nausea and vomiting (PONV) is one of the most frequent complications after surgery. PONV prophylaxis has been strongly recommended, and identifying risk factors is the first step. The well-known PONV risk assessment tools were not validated in the liver cancer population, however, no study has explored the relationship between PONV and liver surgery-specific factors. This study aimed to identify whether there was an association between hepatic portal occlusion and PONV among patients after hepatectomy.</p><p><strong>Methods: </strong>Participants were consecutively enrolled during June 2023 to August 2023 in the cancer center in Fudan Univesity Zhongshan Hospital. Liver cancer patients who underwent liver resection surgery were eligible. The impact of hepatic portal occlusion on PONV was determined using Logistic regression models.</p><p><strong>Results: </strong>A total of 380 patients were consecutively included in the study, and 192 patients (50.53%) developed PONV. A linear relationship between PONV and the time of hepatic portal occlusion was observed. Even adjusted for 9 PONV-related factors, the hepatic portal occlusion was still significantly correlated with PONV (OR = 1.22, 95%CI = 1.05-1.43, P = 0.012). In addition, the numbers of hepatic portal occlusion were positively related to the incidence of PONV (OR = 1.30, 95% CI = 1.04-1.62, P for trend = 0.022); as the number of occlusions increased, patients were more likely to experience PONV.</p><p><strong>Conclusions: </strong>Hepatic portal occlusion was an important PONV predictor for patients undergoing liver surgery and should be used to update PONV scoring systems to guide personalized prophylactic antiemetics use in clinical practice.</p><p><strong>Trial registration: </strong>The study was registered with the US National Institutes of Health ClinicalTrials.gov (NCT05894408) on May 30, 2023.</p>","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"25 1","pages":"1177"},"PeriodicalIF":3.4,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12265353/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144648546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Health inequality and the global burden of mesothelioma: insights from the global burden of disease study 2021.","authors":"Lin Lv, Wei Gao, Daming Fan, Chao Ma, Bing Yan, Ge Li, Yongsheng Jiang","doi":"10.1186/s12885-025-14590-2","DOIUrl":"10.1186/s12885-025-14590-2","url":null,"abstract":"","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"25 1","pages":"1179"},"PeriodicalIF":3.4,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12265283/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144648547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enhanced tumor suppression in patient-derived temozolomide-resistant glioblastoma cells using a combination treatment of Olaparib and FK866.","authors":"Xiaowei Sha, Jiaqian Li, Yunlong Fang, Jingjie Feng, Yasong Feng, Jing Wang, Yang Si, Feng Li, Shan Cheng, Wei Ding","doi":"10.1186/s12885-025-14568-0","DOIUrl":"10.1186/s12885-025-14568-0","url":null,"abstract":"<p><p>Glioblastoma (GBM) is a prevalent brain cancer with notorious aggressiveness in adults. Standard treatment for GBM includes surgery, radiation, and administration of Temozolomide (TMZ). However, the TMZ resistance during chemotherapy poses a significant challenge. In the recent study a patient-derived TMZ-resistant GBM cell line, we found that Olaparib, a PARP inhibitor, exerted a significant tumor inhibition effect. However, the required dosage appeared to be beyond current clinical applicable levels. From a transcriptome analysis screen, a drastic upregulation of nicotinamide phosphoribosyltransferase (NAMPT) was validated in tumor cells survived from Olaparib treatments. The increased level of intracellular NAD + was sufficient to increase the cell survival from Olaparib and TMZ exposure. By optimizing the dosage of Olaparib and FK866, a NAMPT inhibitor, we were able to achieve a combination regimen allowing both effective killing and growth inhibition of TMZ-resistant GBM cells, as well as the acceptance of current clinical pharmacodynamic and toxicological standard of each component agent. The combination treatment strategy was also tested in other TMZ-resistant cell lines and 3D organoids for its potential in clinical applications. In searching for potential marker molecules to indicate the effectiveness from the double inhibition of both NAMPT and PARP activities, we profiled the plasma-detectable circRNA species of cell subjected to the combination treatments, and identified the circPTTG1IP with a negatively of predictive value. Additional investigation suggested that NAMPT expression and cellular NAD + levels were regulated by circPTTG1IP, possibly involved its interaction with NAMPT targeting miRNAs.</p>","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"25 1","pages":"1174"},"PeriodicalIF":3.4,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261764/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144641806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The prognostic value of lactate dehydrogenase/albumin ratio in extranodal natural killer/T cell lymphoma.","authors":"Na Li, You Feng, Xin Chen, Li-Qun Zou","doi":"10.1186/s12885-025-14393-5","DOIUrl":"10.1186/s12885-025-14393-5","url":null,"abstract":"<p><strong>Objective: </strong>Extranodal natural killer/T-cell lymphoma (ENKTL) is recognized for its aggressive nature and variable clinical presentation, often leading to a poor prognosis. While the combined assessment of baseline serum lactate dehydrogenase (LDH) and albumin (ALB) levels has demonstrated prognostic value across various malignancies, its specific application and evidence in ENKTL are unstudied.</p><p><strong>Purpose: </strong>This study aimed to investigate the impact of the lactate dehydrogenase/albumin ratio (LAR) in ENKTL, offering nutritional and immunological insights to enhance risk stratification.</p><p><strong>Results: </strong>We conducted a retrospective analysis of 484 ENKTL patients treated with asparaginase-based regimens. The optimal thresholds for serum LDH and ALB levels were identified as 230 u/L and 40 g/L, respectively, and 5.4 for LAR. With a median follow-up of 70 months, the 5-year overall survival (OS) and progression-free survival (PFS) rates were determined to be 58.7% and 52.0%, respectively. Patients with higher LAR values exhibited more unfavorable clinical features and poorer 5-year OS and PFS rates compared to those with lower LAR values. Utilizing the LAR-associated prognostic score, patients were categorized into distinct risk groups, revealing significant differences in 5-year OS and PFS among these groups. By integrating the LAR and LAR-associated prognostic score into the prognostic index for natural killer lymphoma (PINK) and PINK with Epstein-Barr virus (PINK-E) models, we found that these measures provided additional prognostic information.</p><p><strong>Conclusion: </strong>Elevated LDH and decreased ALB levels at the time of initial diagnosis are indicative of a poor prognosis in ENKTL patients. The LAR and LAR-associated prognostic score may serve as independent prognostic indicators for ENKTL, potentially aiding in risk stratification and informing clinical decision-making.</p>","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"25 1","pages":"1176"},"PeriodicalIF":3.4,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261561/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144641808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Regulatory and clinical outcomes of priority-reviewed innovative cancer drugs in China between 2015 and 2024: an observational study.","authors":"Qi Li, Nan Peng, Linfeng Jiang, Huting Zhou, Pengcheng Liu, Haijing Guan, Dongning Yao","doi":"10.1186/s12885-025-14580-4","DOIUrl":"10.1186/s12885-025-14580-4","url":null,"abstract":"<p><strong>Background: </strong>China implemented the Priority Review Program (PRP) to accelerate the approval of innovative drugs with significant clinical value. This study explores whether drugs approved through the PRP have more significant clinical benefits by comparing differences in approval time, efficacy, and safety between drugs approved through the priority and non-priority review pathways.</p><p><strong>Methods: </strong>In this observational comparative analysis, we conducted an analysis of innovative cancer drugs approved by the Center for Drug Evaluation (CDE) of the National Medical Products Administration (NMPA) between January 1, 2015, and December 31, 2024. Data were systematically collected and evaluated on NDA/BLA review times, efficacy outcomes (overall survival [OS], progression-free survival [PFS], and overall response rate [ORR]), and safety outcomes (Grade ≥ 3 adverse events [AEs] and treatment-related serious adverse events [SAEs]). A meta-analysis was conducted to assess the hazard ratios for PFS, ORR, and the risk ratios for Grade ≥ 3 AEs and treatment-related SAEs. Additionally, subgroup analyses were conducted to assess the impact of the 2020 policy changes on the PRP.</p><p><strong>Results: </strong>The NMPA approved 49 innovative cancer drugs for 69 indications, of which 47 indications were subject to priority review and 22 to non-priority review. Priority-reviewed indications significantly shortened NDA/BLA review times (263.5 vs. 352 days, p < 0.001). However, no significant differences in efficacy were observed between priority and non-priority-reviewed indications in terms of median PFS (9.87 vs. 8.95 months, p = 0.875), median OS (10.85 vs. 20.85 months, p = 0.240), the hazard ratio of PFS (0.46 vs. 0.50, p = 0.608), and ORR (60.8% vs. 67.6%, p = 0.915; pooled ORR: 54% vs. 53.7%, p = 0.986). In contrast, priority-reviewed indications were associated with higher risks of Grade ≥ 3 AEs (56.33% vs. 57.35%, p = 0.732; risk ratio: 1.68 vs. 1.12, p = 0.017) and treatment-related SAEs (14.46% vs. 24.55%, p = 0.087; risk ratio: 1.82 vs. 1.39, p = 0.021) compared to non-priority-reviewed indications.</p><p><strong>Conclusions: </strong>Although the PRP expedites patient access to innovative drugs, evidence remains insufficient to demonstrate significant additional benefits in efficacy and safety.</p>","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"25 1","pages":"1175"},"PeriodicalIF":3.4,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261532/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144641807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification and modulation of a PI3K/AKT/mTOR pathway-targeting microRNA in order to increase colorectal cancer cells radiosensitivity in vitro.","authors":"Seyedeh Nasibeh Mousavikia, Maryam M Matin, Mohammad Taghi Bahreyni Tossi, Seyed Hamid Aghaee-Bakhtiari, Hosein Azimian","doi":"10.1186/s12885-025-14501-5","DOIUrl":"10.1186/s12885-025-14501-5","url":null,"abstract":"<p><strong>Background: </strong>The progression of colorectal cancer (CRC) occurs via the PI3K/AKT/mTOR signaling pathway. Recent evidence suggests that microRNAs (miRNAs) can modulate gene expression, potentially offering new treatment options. This study aims to identify a miRNA that enhances radiosensitivity in CRC by targeting the PI3K/AKT/mTOR signaling pathway.</p><p><strong>Methods: </strong>Gene expression datasets of CRC patients were retrieved from the NCBI database. Genes from the PI3K/AKT/mTOR signaling pathway were identified using the KEGG database. miRNA-mRNA binding sites were determined using TarBase, miRTarBase, mirDIP and miRNet. The selected miRNA was transfected into CRC cell lines, focusing on the two most responsive lines. Radiosensitivity was assessed by clonogenic assays and analysis of apoptotic cells in both irradiated and non-irradiated groups. Changes in gene expression were analyzed by real-time PCR.</p><p><strong>Results: </strong>Data from 87 CRC patients were extracted and revealed 20 genes associated with the pathway according to specific criteria (logFC > 0 and adj.P < 0.05).miR-16-5p was selected for further investigation. The optimal transfection time was set at 48 h, with LoVo and HT-29 selected as cell lines. Irradiation with 4 Gy significantly suppressed miR-16-5p in both lines (P < 0.0023 for LoVo; P < 0.0001 for HT-29). miR-16-5p effectively suppressed the target genes CCNE1, CCND1, MYC, CDK4, HSP90AB1 and PIK3CA, with remarkable changes in gene expression after irradiation. Transfection and irradiation decreased cell survival (P < 0.05) and increased apoptosis (P < 0.0001).</p><p><strong>Conclusion: </strong>The PI3K/AKT/mTOR signalling pathway is associated with radioresistance in CRC. miR-16-5p represses pathway genes and increases radiosensitivity, suggesting that miRNA-based gene therapy may improve treatment outcomes and patient quality of life.</p>","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"25 1","pages":"1172"},"PeriodicalIF":3.4,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261852/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gene expression in tumor and adjacent normal tissues in lung adenocarcinoma subtypes.","authors":"Olga Y Gorlova, Ivan P Gorlov, R Taylor Ripley, Chao Cheng, Yafang Li, Bo Peng, Yanhong Liu, Hee-Jin Jang, Sung Wook Kang, Claire Lee, Priyanka Ranchod, Bryan M Burt, Hyun-Sung Lee, Christopher I Amos","doi":"10.1186/s12885-025-14496-z","DOIUrl":"10.1186/s12885-025-14496-z","url":null,"abstract":"<p><strong>Background: </strong>Lung adenocarcinoma (LUAD) has several histologically distinct subtypes that differ by a number of clinical features including patient survival. Molecular mechanisms underlying histological and clinical differences between subtypes remain poorly understood.</p><p><strong>Methods: </strong>We conducted a comparative analyses of gene expression in acinar, lepidic, papillary and solid subtypes, as well as mucinous adenocarcinoma. We used a novel, more efficient approach to identify subtype-specific genes. We compared the mean gene expression level separately for tumors and adjacent normal tissue with pure or a highly represented (≥ 75%) subtype of interest to the mean expression in tumors where the subtype of interest was not present. We also performed tumor to adjacent normal tissue comparisons and identified genes differentially expressed between tumor and adjacent normal tissues for each subtype.</p><p><strong>Results: </strong>The number of subtype-specific genes varied from 1 for the acinar to 482 for the papillary subtype. Comparative analysis of gene expression in adjacent normal tissues also identified subtype-specific genes, 38 in total. Gene set enrichment analysis identified oxidative phosphorylation as a biological function associated with papillary, and immune response - with solid subtype. Using data on differential expression between tumor and adjacent normal tissue among the subtype-specific genes and existing evidence for association with lung carcinogenesis, we have identified several candidate subtype-specific driver genes.</p><p><strong>Conclusio: </strong>n We identified subtype-specific genes, biological functions, and potential drivers of subtype-specific carcinogenesis for LUAD subtypes. The study showed importance of gene expression in adjacent normal tissue for subtype-specific tumorigenesis.</p>","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"25 1","pages":"1169"},"PeriodicalIF":3.4,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261662/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}