BMC Cancer最新文献

{"title":"Retraction Note: Lactate dehydrogenase D serves as a novel biomarker for prognosis and immune infiltration in lung adenocarcinoma.","authors":"Yu Zhang, Tianyi Zhang, Yingdong Zhao, Hongdi Wu, Qiang Zhen, Suwei Zhu, Shaoshuai Hou","doi":"10.1186/s12885-024-13137-1","DOIUrl":"10.1186/s12885-024-13137-1","url":null,"abstract":"","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"24 1","pages":"1361"},"PeriodicalIF":4.3,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11542429/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603275","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":"Interim analysis of robot-assisted radical hysterectomy in Japan: a multicenter, prospective interventional single-arm clinical trial.","authors":"Hiroe Ito, Yoshihito Yokoyama, Satoru Kyo, Masaki Mandai, Kenzo Kosaka, Hiroaki Kobayashi, Etsuko Miyagi, Mamiko Onuki, Koji Matsumoto, Noriomi Matsumura, Kota Umemura, Hideki Ishikawa, Keiichi Isaka","doi":"10.1186/s12885-024-13090-z","DOIUrl":"10.1186/s12885-024-13090-z","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the efficacy and safety of robot-assisted radical hysterectomy (RARH) as a minimally invasive procedure in patients with cervical cancer that is curable by surgery.</p><p><strong>Materials and methods: </strong>This study was a multicenter, open-label, single-arm clinical trial. The short-term outcome of open radical hysterectomy was used as the historical control. The primary endpoint was successful surgery with minimal blood loss (300 mL or less) and negative surgical margins. Secondary endpoints included surgical outcomes, recurrence-free survival (RFS), and overall survival (OS) rates.</p><p><strong>Results: </strong>Overall, 101 cases were enrolled in this study at 10 participating medical institutions and 100 underwent RARH. Among these cases, 89 met the primary endpoint, exceeding the threshold of 0.75 set by the lower limit. At 2 years postoperatively, 17 cases had recurrences, 4 were classified as International federation of Obstetrics and Gynecology Stage IB1 or lower, while 13 as IB2 or higher. There were three deaths, including one in Stage IB1 and two in Stage IIB in the second postoperative year, all of which had lymph node metastasis. The oncological outcomes for all cases showed RFS and OS rates of 82.7% and 96.9%, respectively, over a median observation period of 37 months. For cases with Stage IB1, RFS and OS were 94.1% and 98.5%, respectively.</p><p><strong>Conclusion: </strong>RARH demonstrated a significant reduction in blood loss while ensuring radicality, indicating the safety and efficacy of this procedure compared to conventional RH. Although it is conceivable that the results of this oncological analysis could change, as the data collection has not been fully completed, we plan to further evaluate the oncologic outcomes of RARH in future studies.</p><p><strong>Trial registration: </strong>UMIN-CTR: UMIN000022278, registered on 11th May 2016.</p>","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"24 1","pages":"1360"},"PeriodicalIF":3.4,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11542374/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603269","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 in vitro investigation into the cytotoxic impact of antigen-presenting dendritic cell-tumor infiltrating lymphocytes on ovarian cancer cells.","authors":"Shengnan Yang, Junrong Wang, Zhenwu Du, Chunhua Sheng, Qianyu Liu, Xuewei Lao, Donghui Xu, Ying Pan","doi":"10.1186/s12885-024-13131-7","DOIUrl":"10.1186/s12885-024-13131-7","url":null,"abstract":"<p><strong>Objective: </strong>The objective of this study is to develop a novel therapeutic approach for the treatment of ovarian cancer while investigating the role of tumor-infiltrating lymphocytes (TILs) in the context of ovarian cancer therapy. The primary aim is to establish a technical procedure for the isolation of tumor cells, lymphocytes, and dendritic cells (DCs) derived from ovarian cancer tissues or ascites. Subsequently, the focus lies on the generation of dendritic cell-tumor infiltrating lymphocytes (DC-TILs) exhibiting specific cytotoxic capabilities aimed at targeted therapeutic interventions. The cytotoxic impact of DC-TIL interactions on tumor cells was investigated through in vitro experimentation. This research aims to provide fundamental experimental insights for the future clinical advancement of TIL therapy in ovarian cancer.</p><p><strong>Methods: </strong>The experimental samples included fresh surgical specimens and ascites specimens procured from three patients (ranging in age from 32 to 75), sourced from the Department of Gynecology at the Third Bethune Hospital of Jilin University. TILs were extracted through in vitro isolation from solid tumor tissues, while primary tumor cells and DCs were obtained from ascites specimens. Tumor-specific antigens derived from patient tumor cells were utilized to stimulate the maturation of DCs. TILs were subsequently co-cultured with antigen-stimulated DC cells. Subsequently, TILs with specific killing effects were obtained, and the cytotoxic impact of DC-TILs on tumor cells was detected in vitro.</p><p><strong>Results: </strong>(1) TILs were successfully obtained through expansion from the tumor tissue of a patient diagnosed with ovarian cancer. (2) DCs were successfully induced from ascites cells harvested from patients diagnosed with ovarian cancer. (3) TILs significantly enhanced the cytotoxicity of tumor cells following DC stimulation.</p><p><strong>Conclusion: </strong>TILs have the capacity to augment the cytotoxicity directed towards tumor cells following DC stimulation.</p>","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"24 1","pages":"1364"},"PeriodicalIF":4.3,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11542396/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603250","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":"Targeting LLT1 as a potential immunotherapy option for cancer patients non-responsive to existing checkpoint therapies in multiple solid tumors.","authors":"Tirtha Mandal, Soorya Gnanasegaran, Golding Rodrigues, Shalini Kashipathi, Anurag Tiwari, Ashvini Kumar Dubey, Sanghamitra Bhattacharjee, Yogendra Manjunath, Subith Krishna, M S Madhusudhan, Maloy Ghosh","doi":"10.1186/s12885-024-13074-z","DOIUrl":"10.1186/s12885-024-13074-z","url":null,"abstract":"<p><strong>Background: </strong>High levels of LLT1 expression have been found in several cancers, where it interacts with CD161 on NK cells to facilitate tumor immune escape. Targeting LLT1 could potentially relieve this inhibitory signal and enhance anti-tumor responses mediated through NK cells. Using the 'The Cancer Genome Atlas' (TCGA) database, we investigated the role of LLT1 in the tumor microenvironment (TME) across various cancers. Identifying such biomarkers could create new therapeutic options for patients in addition to complementing existing immunotherapies.</p><p><strong>Methods: </strong>LLT1 expression was evaluated in 33 cancers using TCGA transcriptome data. Univariate Cox regression analysis was employed to assess the correlation of LLT1 expression with patient survival. The relationship between LLT1 expression with immune infiltrates, immune gene signatures, and cancer genomic biomarkers (TMB, MSI, and MMR) was also investigated. Immunofluorescence studies were conducted to validate LLT1 expression in tumors. Furthermore, using the CRI iAtlas data, we evaluated LLT1 distribution and its correlation with other immune checkpoint genes in patients non-responsive to existing immune checkpoint therapies across multiple solid cancers.</p><p><strong>Results: </strong>High expression of LLT1 was observed in 12 cancers, including BRCA, CHOL, ESCA, GBM, HNSC, KIRC, KIRP, LIHC, LUAD, STAD, SARC, and PCPG. In certain cancers like COAD, KICH, and KIRC, high LLT1 expression was associated with poor prognosis. Further analysis revealed that upregulated LLT1 was associated with an abundance of NK and T cell infiltrates in the TME, as well as exhaustive immune biomarkers, and inversely associated with pro-inflammatory and tumor suppressor signatures. High LLT1 expression is also positively correlated with genomic biomarkers in certain cancers. Immunofluorescence studies confirmed moderate to high LLT1 expression in immune-resistant prostate cancer, glioma, ovarian cancer, and immune-sensitive liver cancer cell lines. An independent assessment of clinical cohorts from CRI iAtlas showed a correlation of upregulated LLT1 with multiple immunosuppressive genes in patients non-responsive to current ICIs.</p><p><strong>Conclusions: </strong>The biomarker analysis revealed a clear association between elevated LLT1 expression and an immunosuppressive TME in patient cohorts from TCGA and clinical databases. Therefore, this study provides a foundation for utilizing LLT1 as a potential target to improve clinical responses in ICI non-responsive patients with upregulated LLT1.</p>","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"24 1","pages":"1365"},"PeriodicalIF":4.3,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11545609/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603292","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":"Efficacy and safety of PD-1/PD-L1 inhibitors in patients with Merkel Cell Carcinoma: a systematic review and Meta-analysis.","authors":"Francisco Cezar Aquino de Moraes, Michele Kreuz, Isabella Christina Amaral de Lara, Artur de Oliveira Macena Lôbo, Rommel Mario Rodríguez Burbano","doi":"10.1186/s12885-024-13129-1","DOIUrl":"10.1186/s12885-024-13129-1","url":null,"abstract":"<p><strong>Background: </strong>Merkel cell carcinoma (MCC) is a rare and aggressive neuroendocrine skin cancer characterized by high rates of metastasis. Emerging evidence suggests that PD-L1/PD1 blockade holds promise as a therapeutic option for MCC. However, the efficacy and safety of this approach in treating MCC remain incompletely understood. This systematic review and meta-analysis aims to analyze the efficacy and safety of PD-1/PD-L1 blockade for patients with MCC.</p><p><strong>Methods: </strong>PubMed, Cochrane, and Embase were searched for studies evaluating patients with MCC undergoing PD-1/PD-L1 treatment. The estimated outcomes were overall response rate (ORR), disease control rate (DCR), progression-free survival (PFS), overall survival (OS), and treatment-related adverse events (TRAEs). We performed the meta-analysis using RStudio v4.4.2 software.</p><p><strong>Results: </strong>A total of 14 reports of 13 different studies encompassing 615 patients were included. The median age ranged from 64 to 77 years. Median follow-up ranged from 7.9 months to 59.3 months. Pooled OS rates at 24 and 36 months were 65.05% (95% CI 44.04-81.49) and 59.58% (95% CI 39.62-76.81), respectively, while pooled PFS rates at 6, 12, and 36 months were 51.78% (95% CI 37.83-65.45), 46.12% (95% CI 29.44-63.72), and 28.73% (95% CI 16.57-45.02), in the same order. DCR proportion was 61.65% (95% CI 54.85-68.03) and ORR was 53.79% (95% CI 47.80-59.68). The frequency of TRAEs of any grade was 61.72% (95% CI 45.75-75.51) and for TRAEs of grade ≥ 3 was 17.60% (95% CI 12.28 to 24.57).</p><p><strong>Conclusions: </strong>This systematic review and meta-analysis revealed that patients with MCC undergoing treatment with PD-1/PDL-1 showed durable responses with continuous and clinically meaningful survival outcomes.</p>","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"24 1","pages":"1357"},"PeriodicalIF":3.4,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11539798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142589347","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":"Assessing the impact of cervical cancer education in two high schools in Ghana.","authors":"Florence Dedey, Josephine Nsaful, Edmund Nartey, Juliana Labi, Nii Armah Adu-Aryee, Christine Kuti, Joe-Nat Clegg-Lamptey","doi":"10.1186/s12885-024-13134-4","DOIUrl":"10.1186/s12885-024-13134-4","url":null,"abstract":"<p><strong>Background: </strong>Cervical cancer is one of the commonest female cancers in Ghana. However, it is preventable. Prevention through Human Papilloma Virus immunization and early detection by screening have their foundation in awareness and a good knowledge about the disease. Acquiring the right knowledge about cervical cancer should be earlier rather than later while mindsets are still being formed to translate into the right attitudes and behaviours later in life.</p><p><strong>Methodology: </strong>An unpaired pre- and post-test quasi experimental study was conducted at two Ghanaian senior high schools. An educational intervention was carried out comprising a drama, PowerPoint lecture, question and answer session and cervical cancer information leaflet distribution. A self-administered questionnaire was given as a pre-test and repeated as a post-test after 3 months. The total score for each domain of knowledge tested was categorized into adequate knowledge (≥ 50%) and inadequate knowledge (< 50%).</p><p><strong>Results: </strong>The number of participants in the pre- and post-test were 1,107 and 1,276 girls respectively, with average age of 16 years. General knowledge on cervical cancer improved to 94.4% from 73% following the intervention, but only 46.2% said cervical cancer was curable following the education. Knowledge on symptoms improved from 78 to 87.1% and risk factor knowledge improved from 81.8 to 89.3%. After the intervention, 37% from an initial 42% still thought that having sex at a young age (adolescence) was not a risk factor. Screening and prevention knowledge improved from 82.9 to 91% but only 37.2% knew the recommended age to begin screening with pap smears, even after the education. Overall knowledge on cervical cancer after the education significantly improved from 79.1 to 92.3%.</p><p><strong>Conclusion: </strong>Knowledge of cervical cancer among young girls in two High Schools, improved with the educational intervention. Areas of education to be emphasized are: cervical cancer is curable if diagnosed early, increased risk with early onset of sexual activity, and recommended age to start screening. Educating young girls on cervical cancer increases their awareness and gives them adequate knowledge which should influence their attitudes and behaviour towards cervical cancer in the future. It should be considered for adoption into high school curricula.</p>","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"24 1","pages":"1359"},"PeriodicalIF":3.4,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11542458/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142589226","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":"Mesenchymal stem cell-derived exosomes carrying miR-486-5p inhibit glycolysis and cell stemness in colorectal cancer by targeting NEK2.","authors":"Facai Cui, Yu Chen, Xiaoyu Wu, Weifeng Zhao","doi":"10.1186/s12885-024-13086-9","DOIUrl":"10.1186/s12885-024-13086-9","url":null,"abstract":"<p><p>Colorectal cancer (CRC) is a major global concern. Mesenchymal stem cell-derived exosomes (MSC-EXOs) have demonstrated efficacy as a therapeutic approach for colorectal cancer. However, the precise mechanism by which MSC-EXOs treat colorectal cancer remains unclear. Human umbilical cord (hUC)-MSC-EXOs were isolated and identified. Cell Counting Kit-8 (CCK-8), Transwell, and colony formation assays were used to assess the activity of CRC cells. Glucose consumption, lactic acid production, and extracellular acidification rate (ECAR) were measured to assess glycolytic activity. Cell stemness was assessed using a sphere-formation assay. Furthermore, MSC-exosomal microRNAs (miRNAs) in CRC tissues were analyzed using the EVmiRNA database, and aberrantly expressed miRNAs in CRC cells were obtained from the Gene Expression Omnibus (GEO) database. The binding relationship between miR-486-5p and the never in mitosis gene A-related kinase 2 (NEK2) was predicted using the Starbase database and validated through RNA binding protein immunoprecipitation (RIP) and dual luciferase assays. These results showed that hUC-MSC-EXOs inhibited the proliferation and metastasis of CRC cells. Moreover, glycolysis and stemness abilities of CRC cells also decreased after treatment with hUC-MSC-EXOs. miR-486-5p was found to be enriched in hUC-MSC-EXOs and significantly downregulated in CRC cells. miR-486-5p directly bound to NEK2. Overexpression of NEK2 reversed the inhibitory effect of miR-486-5p on CRC cell glycolysis and stemness. Our study highlights that hUC-MSC-EXO miR-486-5p inhibits glycolysis and cell stemness in CRC by targeting NEK2. This finding offers compelling evidence supporting the potential application of hUC-MSC-EXOs in the treatment of CRC.</p>","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"24 1","pages":"1356"},"PeriodicalIF":3.4,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11539302/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142589365","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":"Early-life antibiotic exposure aggravate the metabolic dysfunction-associated steatotic liver disease associated hepatocellular carcinoma.","authors":"Panpan Tian, Xinyu Tian, Lifen Gao, Chunhong Ma, Xiaohong Liang","doi":"10.1186/s12885-024-13136-2","DOIUrl":"10.1186/s12885-024-13136-2","url":null,"abstract":"<p><strong>Background: </strong>Metabolic dysfunction-associated steatotic liver disease (MASLD) asscociated hepatocellular carcinoma (HCC) is becoming a growing concern in global healthcare. The early-life gut microbiota plays a crucial role in maintaining healthy. However, the impact of early-life gut microbiota dysbiosis on the advancement of MASLD-HCC remains inadequately understood.</p><p><strong>Methods: </strong>In the present study, we investigated the role of early-life gut microbiota in the development of MASLD-HCC in streptozotocin and high-fat diet (STZ-HFD) induced mouse model. We recorded the body weight and lifespan, and dynamically monitored the level of alanine aminotransferase (ALT), aspartate aminotransferase (AST), triglyceride (TG), total cholesterol (T-CHO) and blood glucose in the serum monthly. In addition, we examined various immune cells present in the liver, such as T cells, B cells, NK cells, NKT cells, αβT cells, γδT cells, macrophage and MDSC cells by flow cytometry and conducted liquid chromatography mass spectrometry (LC-MS) based analysis on liver tissue from control and early-life antibiotic exposure mice (early-Abx) MASLD-HCC mice.</p><p><strong>Results: </strong>We found that early-Abx mice suffered from more severe tumor burden and further confirmed that hepatocytes and immune cells were all disturbed. Importantly, early-life antibiotic exposure alters the liver metabolic profiling especially glycerophospholipids and lipid accumulation. Furthermore, mice exposed to antibiotics in early-life showed disturbances in glucose metabolism and developed insulin resistance.</p><p><strong>Conclusions: </strong>Collectively, our findings revealed that early-life antibiotic exposure accelerated the progression of MASLD-HCC by impairing the hepatocytes, immune homeostasis and metabolites persistently, highlighting the importance of the early-life microbiota in the development of MASLD-HCC.</p>","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"24 1","pages":"1358"},"PeriodicalIF":3.4,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11539558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142589252","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":"Investigating the role of non-synonymous variant D67N of ADGRE2 in chronic myeloid leukemia.","authors":"Ayesha Afzal, Harooma Jamshaid, Yasmin Badshah, Maria Shabbir, Janeen H Trembley, Sameen Zafar, Ghulam Murtaza Kamal, Tayyaba Afsar, Fohad Mabood Husain, Suhail Razak","doi":"10.1186/s12885-024-13108-6","DOIUrl":"10.1186/s12885-024-13108-6","url":null,"abstract":"<p><strong>Background: </strong>Chronic myeloid leukaemia (CML) is a type of blood cancer that begins in the hematopoietic stem cells. It is primarily characterized by a specific chromosomal aberration, the Philadelphia chromosome. While the fusion gene is a major contributor to CML, several other genes including ADGRE2, that are reported as highly expressed in hematopoietic stem cells and could be utilized as a therapeutic marker in leukemic patients are implicated in the disease's progression. Until recently, little research had been conducted to identify single nucleotide polymorphisms (SNPs) associated with CML. Therefore, this study aims to investigate the influence of non-synonymous variants on the structure and function of the gene encoding adhesion G protein-coupled receptor E2, ADGRE2, and to evaluate their association with CML and its clinical and pathological characteristics.</p><p><strong>Methods: </strong>Non-synonymous SNPs of ADGRE2 were retrieved from the ENSEMBL, COSMIC, and gnomAD genome browsers, and the pathogenicity of deleterious variants was assessed using several established computational tools, including SIFT, CADD, REVEL, PolyPhen, and MetaLR.</p><p><strong>Results: </strong>Various in silico analyses explored the impact of damaging SNP on the function, stability, and structure of EGF-like modules containing mucin-like hormone receptor-like2 (EMR2) protein encoded by the ADGRE2 gene. Genotype analysis was performed on collected blood samples, revealing that altered genotype TT of variant rs765071211 (C/T) was associated significantly with CML patients compared to the control. Further in vitro and in vivo analyses suggest that this SNP holds potential for clinical translation.</p>","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"24 1","pages":"1354"},"PeriodicalIF":3.4,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11536965/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142581982","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":"Predicting radiation pneumonitis in lung cancer using machine learning and multimodal features: a systematic review and meta-analysis of diagnostic accuracy.","authors":"Zhi Chen, GuangMing Yi, XinYan Li, Bo Yi, XiaoHui Bao, Yin Zhang, XiaoYue Zhang, ZhenZhou Yang, Zhengjun Guo","doi":"10.1186/s12885-024-13098-5","DOIUrl":"10.1186/s12885-024-13098-5","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the diagnostic accuracy of machine learning models incorporating multimodal features for predicting radiation pneumonitis in lung cancer through a systematic review and meta-analysis.</p><p><strong>Methods: </strong>Relevant studies were identified through a systematic search of PubMed, Web of Science, Embase, and the Cochrane Library from October 2003 to December 2023. Additional studies were located by reviewing bibliographies and relevant websites. Two independent researchers screened titles, abstracts, and full-text articles according to predefined inclusion and exclusion criteria. Data extraction was performed using standardized forms, and study quality was assessed using the Quality Assessment of Diagnostic Accuracy Studies-2 tool. The primary outcomes, including combined sensitivity, specificity, positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic odds ratio (DOR), and area under the curve (AUC), were calculated using STATA MP-64 software(Stata Corporation LLC, College Station, USA) with a random-effects model. Meta-analysis was conducted to synthesize diagnostic accuracy measures, and analyses of heterogeneity and publication bias were performed.</p><p><strong>Results: </strong>A total of 1,406 patients with primary lung cancer were included in this systematic review, drawing data from 9 studies. The pooled analysis revealed a sensitivity of 0.74 [0.58-0.85] and a specificity of 0.91 [0.87-0.95] for machine learning models in diagnosing radiation pneumonitis. The positive likelihood ratio (PLR) was 8.69 [5.21-14.50], the negative likelihood ratio (NLR) was 0.28 [0.16-0.49], and the diagnostic odds ratio (DOR) was 30.73 [11.96-78.97]. The area under the curve (AUC) was 0.93 [0.90-0.95], indicating excellent diagnostic performance. Meta-regression analysis identified that the number of machine learning models, year of publication, and study design contributed to heterogeneity among studies. No evidence of publication bias was found. Overall, machine learning models incorporating multimodal characteristics demonstrated 75% accuracy in predicting moderate to severe radiation pneumonitis.</p><p><strong>Conclusion: </strong>In conclusion, by integrating the current machine learning (ML) algorithm's ability in big data mining, a predictive model can be constructed by combining multi-modal features such as genetics, imaging, and cell factors. By selecting multiple machine learning algorithm frameworks and competing for the best combination model based on research goals, the reliability and accuracy of the radiation pneumonitis prediction model can be greatly improved.</p><p><strong>Trial registration: </strong>PROSPERO (CRD42024497599).</p>","PeriodicalId":9131,"journal":{"name":"BMC Cancer","volume":"24 1","pages":"1355"},"PeriodicalIF":3.4,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11539622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142581983","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}