American journal of cancer research最新文献

{"title":"IL-33 as a biomarker for disease severity in COPD with lung cancer comorbidity.","authors":"Hui Ren, Yan Cui, Xiuyun Lv","doi":"10.62347/QCSN6467","DOIUrl":"10.62347/QCSN6467","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the differences in peripheral blood levels of interleukin-1β (IL-1β), IL-6, IL-17, and IL-33 between patients with chronic obstructive pulmonary disease (COPD) and lung cancer (Comorbidity Group) and those with COPD alone (COPD Group), as well as to explore their clinical significance.</p><p><strong>Methods: </strong>Samples were collected from 133 patients with both COPD and lung cancer (Comorbidity Group) and 91 patients with COPD alone (COPD Group), diagnosed at Affiliated Hospital of Inner Mongolia Medical University between January 2022 and January 2024. Baseline data from both groups were analyzed, and peripheral blood levels of IL-1β, IL-6, IL-17, and IL-33 were measured using enzyme-linked immunosorbent assay (ELISA). The levels of these inflammatory cytokines were compared between the two groups to assess their correlation with disease severity.</p><p><strong>Results: </strong>Significant differences were observed between the Comorbidity Group and the COPD Group in terms of age (P<0.001), sex (P=0.012), duration of COPD (P=0.001), smoking history (P=0.006), glucocorticoid treatment (P=0.014), and GOLD Staging (P<0.001). IL-1β was positively correlated with RV/TLC (P=0.036), and IL-17 with FEV1 (P=0.027) in both groups. IL-6 was positively correlated with TLC in the Comorbidity Group (P=0.021). In the COPD Group, IL-33 was negatively correlated with FEV1 (P<0.001), FVC (P=0.001), FEV1/FVC (P<0.001), RV (P<0.001), and RV/TLC (P<0.001), and positively correlated with GOLD Staging (P=0.046). Multivariate logistic regression identified smoking history (P=0.045, OR=2.891), GOLD staging (P=0.028, OR=0.363), IL-33 (P=0.001, OR=27.369), FEV1/FVC (P=0.012, OR=4.291), RV (P=0.002, OR=5.429), and RV/TLC (P=0.002, OR=6.113) as independent factors distinguishing patients with comorbid COPD and lung cancer from those with COPD alone. Interaction analysis revealed no significant interaction between IL-33 and other risk factors.</p><p><strong>Conclusion: </strong>IL-33 levels were significantly higher in patients with comorbid COPD and lung cancer than in those with COPD alone. IL-33 was negatively correlated with lung function and positively correlated with GOLD Staging, suggesting its potential as a biomarker for disease severity.</p>","PeriodicalId":7437,"journal":{"name":"American journal of cancer research","volume":"15 6","pages":"2733-2749"},"PeriodicalIF":3.6,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12256424/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144641463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A hematological and inflammatory marker-based model for prostate carcinoma diagnosis.","authors":"Peiyi Guo, Garu A, Tao Chen, Yuanqing Guo, Yubo Tang, Jiangang Pan, Bin Wang, Rui Gong, Guangfu Chen, Sheng Huang","doi":"10.62347/TVFQ4646","DOIUrl":"10.62347/TVFQ4646","url":null,"abstract":"<p><p>Prostate carcinoma (PC) is the most frequently diagnosed malignancy and the third leading cause of cancer-related death among men in the United States, with over 160,000 new cases reported annually. While prostate-specific antigen (PSA) screening has advanced the early detection and management of PC, its diagnostic accuracy, particularly in distinguishing malignant from benign conditions, remains controversial. Therefore, this study aimed to improve the accuracy and efficiency of early PC diagnosis by constructing a diagnostic model based on hematological indicators. Emerging inflammatory markers such as the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and C-reactive protein (CRP) were incorporated to supplement traditional PSA testing. This study employed a retrospective design and included 317 patients receiving prostate puncture at Foshan Fosun Chancheng Hospital of Guangdong Medical University between January 2019 and January 2022 as the research subjects. These patients were grouped into two categories: 126 diagnosed with PC and 191 diagnosed with benign prostatic hyperplasia, based on histopathological examination of the biopsy samples. Clinical and laboratory data were extracted from the electronic medical record system. Diagnostic markers for PC were screened by logistic regression and least absolute shrinkage and selection operator (LASSO) regression. The diagnostic performance of the model was evaluated using ROC and decision curve analysis. PSA, Neu, Mono, CRP, NLR, NAR, and CK-MB were identified as independent diagnostic indicators, effectively distinguishing PC from benign prostatic hyperplasia. The LASSO regression-based predictive model achieved an AUC of 0.850, significantly outperforming the traditional logistic regression model (AUC=0.792; P=0.042, Delong test), indicating superior diagnostic accuracy and model performance. In conclusion, the combination of traditional PSA testing and emerging inflammatory markers can significantly enhances early diagnostic accuracy for PC and the proposed model offers a promising approach for early detection and clinical decision-making.</p>","PeriodicalId":7437,"journal":{"name":"American journal of cancer research","volume":"15 6","pages":"2551-2563"},"PeriodicalIF":3.6,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12256413/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144641488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Artemisinin derivatives maintain fibroblast normalization by acting on tumor-stroma interactions in oral tongue squamous cell carcinoma.","authors":"Weixing Zeng, Yawen Yang, Jia Xiong, Cui Li, Yang He, Zhihao Liang, Yongwen He","doi":"10.62347/EHVJ7118","DOIUrl":"10.62347/EHVJ7118","url":null,"abstract":"<p><p>Fibroblasts can transform into cancer-associated fibroblasts (CAFs) when continuously stimulated by cancer cells, thereby playing a crucial role in cancer progression. Growing evidence indicates that targeted therapy for CAF can influence tumor progression. Dihydroartemisinin (DHA) and artemether (ARM), semisynthetic derivatives of the natural compound artemisinin, have exhibited anticancer effects in various tumors. In this study, we found that tumor cells secreted platelet-derived growth factor-BB (PDGF-BB), which stimulated fibroblasts to transition into the CAF phenotype (cell phenotype and secretory phenotype). CAFs promote Cal-27 cell proliferation by secreting lactate. We focused on the mechanisms by which DHA and ARM affect the tumor-stroma interactions. These findings demonstrated that DHA and ARM effectively suppressed the secretion of PDGF-BB from Cal-27 cells, maintaining the normal state of hOMF and preventing the proliferative effect on Cal-27 cells. These findings were confirmed in xenograft models. Our study showed that artemisinin derivatives prevent the progression of oral tongue squamous cell carcinoma (OTSCC) by inhibiting the production of PDGF-BB in cancer cells to maintain the normal state of fibroblasts, thus providing a potential avenue for targeted OTSCC treatment.</p>","PeriodicalId":7437,"journal":{"name":"American journal of cancer research","volume":"15 6","pages":"2657-2681"},"PeriodicalIF":3.6,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12256399/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144641490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Machine learning-based prediction of disease-free survival in breast cancer patients with non-pathological complete response after neoadjuvant chemotherapy: a retrospective multicenter cohort study.","authors":"Zi-Ran Zhang, Chao-Xian Wang, Huan Wang, Si-Li Jin","doi":"10.62347/MHSV3723","DOIUrl":"10.62347/MHSV3723","url":null,"abstract":"<p><p>This study aimed to construct a robust machine learning (ML) model for predicting the disease-free survival (DFS) and risk stratification of breast cancer (BC) patients with non-pathological complete response (non-PCR) after neoadjuvant chemotherapy (NAC). The model will facilitate the initiation of early interventions for high-risk patients. This retrospective multicenter cohort study included BC patients from two hospitals in China who received NAC but did not achieve PCR. Four ML algorithms were utilized to construct models based on patients' clinicopathological data, followed by a performance evaluation of these models. To improve the interpretability of the model, the shapley additive explanation (SHAP) method was employed to analyze the contribution of each feature to the predictive outcomes. A total of 463 non-PCR patients were included in the study. Of these, 385 patients were from Ruijin Hospital, affiliated with Shanghai Jiao Tong University, and were randomly split into a training cohort and an internal validation cohort in a 3:1 ratio for model development and preliminary performance evaluation. In addition, 78 patients enrolled from Jiaxing Women and Children's Hospital were assigned to the external validation cohort to evaluate the model's generalizability. Univariate and multivariate Cox regression analyses demonstrated that age, residual tumor size, Ki67 change, molecular subtype, and axillary lymph node metastasis were independent factors influencing DFS. Among the four ML models, the random survival forest (RSF) model showed the best performance, with a concordance index of 0.820 in the training cohort, 0.642 in the internal validation cohort, and 0.689 in the external validation cohort. Further analysis revealed that the RSF model had excellent discriminative ability with a high area under curve value, while its low Brier score indicated excellent calibration. Decision curve analysis indicated that the RSF model offered a higher clinical net benefit at various time points and effectively stratified risk, successfully identifying high-risk patients. SHAP analysis underscored residual tumor size as the most influential predictive feature. The RSF model can effectively predict DFS and risk of BC patients with non-PCR following NAC, offering a critical reference for developing individualized treatment strategies.</p>","PeriodicalId":7437,"journal":{"name":"American journal of cancer research","volume":"15 6","pages":"2482-2499"},"PeriodicalIF":3.6,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12256414/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144641468","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of a predictive model for progression to castration-resistant prostate cancer in patients with high bone tumor burden.","authors":"Weichih Chen, Jinjie Li, Garu A, Shuai Huang, Yubo Tang, Yong Dong, Xitao Linghu, Hang Zhang, Bin Wang, Peiyi Guo, Jiangang Pan","doi":"10.62347/YTSO4314","DOIUrl":"10.62347/YTSO4314","url":null,"abstract":"<p><strong>Objective: </strong>To identify key risk factors and construct a predictive model for the progression of high bone tumor burden prostate cancer (HBTB-PCa) to castration-resistant prostate cancer (CRPC).</p><p><strong>Methods: </strong>This retrospective study included 367 HBTB-PCa patients treated between January 2018 and May 2021, with 286 cases progressed to CRPC (progression group) and 81 cases did not (non-progression group). Patients were randomly divided into training (n=257) and validation (n=110) sets at a 7:3 ratio. Logistic regression was used to identify independent risk factors, and a Nomogram was built to predict progression risk. Model performance was evaluated using receiver operating characteristic (ROC) curves, calibration plots, and decision curve analysis (DCA).</p><p><strong>Results: </strong>Compared with the non-progression group, patients in the progression group had significantly higher rates of perineural invasion (P=0.011), Gleason score ≥8 (P=0.002), and T4 stage (P=0.012). Laboratory markers including ALP (P<0.001) and LDH (P<0.001) were also elevated in the progression group. Multivariate analysis identified perineural invasion (P=0.032), Gleason score (P=0.002), initial PSA (P=0.025), ALP (P=0.011), LDH (P<0.001), and ALB (P=0.019) as independent predictors of progression to CRPC. The Nomogram demonstrated strong discrimination power (AUC=0.845 in the training set; AUC=0.746 in external validation), with LDH being the most influential predictor. DCA indicated a net clinical benefit up to 77.82%.</p><p><strong>Conclusions: </strong>Perineural invasion, Gleason score ≥8, and elevated ALP and LDH are closely associated with progression from HBTB-PCa to CRPC. The constructed Nomogram (internal AUC=0.845; external AUC=0.746) offers a practical tool for individualized risk assessment and guiding treatment planning in clinical settings.</p>","PeriodicalId":7437,"journal":{"name":"American journal of cancer research","volume":"15 6","pages":"2719-2732"},"PeriodicalIF":3.6,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12256397/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144641493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Paraspeckle Component 1: a multifunctional RNA binding protein.","authors":"Minyan Hao, Chandra Sugiarto Wijaya, Linyao Lu, Xian Wang, Jia Zhou","doi":"10.62347/RIWH3000","DOIUrl":"10.62347/RIWH3000","url":null,"abstract":"<p><p>Paraspeckle Component 1 (PSPC1), a Drosophila behavior/human splicing (DBHS) protein family member, represents a pivotal component within paraspeckles. It exerts indispensable functions across a wide array of biological processes, encompassing gene expression, the DNA damage response, the regulation of circadian rhythms, spermatogenesis, cell fate determination, and cancer metastasis. Notably, PSPC1 exhibits overexpression in several types of cancer, including hepatocellular carcinoma, lung cancer, and breast cancer, where it actively contributes to tumorigenesis. This overexpression phenomenon implies that PSPC1 holds the potential to serve as both a biomarker and a therapeutic target for these malignancies. Consequently, a substantial amount of research has been conducted to explore its structure, functions, and role in cancer development and progression. This review article aims to comprehensively summarize the current findings regarding PSPC1.</p>","PeriodicalId":7437,"journal":{"name":"American journal of cancer research","volume":"15 5","pages":"2338-2352"},"PeriodicalIF":3.6,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12163449/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144300984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"GTSF1 promotes stemness in uterine carcinosarcoma through CCL1-mediated M1 macrophage aggregation.","authors":"Ying Li, Ting Lan, Mengyuan Liu, Cong Li, Yali Du","doi":"10.62347/MAXH5742","DOIUrl":"10.62347/MAXH5742","url":null,"abstract":"<p><p>Uterine carcinosarcoma (UCS), a high-grade endometrial carcinoma, is a rare but increasingly prevalent malignant gynecologic neoplasm, now accounting for over 5% of endometrial cancers and associated with a characteristically poor prognosis. In this study, we demonstrate that elevated expression of GTSF1 is significantly correlated with reduced disease-free survival (DFS) in UCS patients and promotes enhanced invasive, migratory, and stem-like phenotypes in tumor cells. Mechanistically, we show that GTSF1 drives tumor progression via activation of CCL1, which induces chemotaxis of M1 macrophages toward malignant cells and subsequent IL-6 secretion, thereby amplifying cancer stemness. Multiplex immunohistochemical analysis revealed spatial co-localization and positive correlations among GTSF1, CCL1, and M1 macrophage infiltration in UCS tissue specimens. <i>In vitro</i> co-culture experiments further confirmed that GTSF1-mediated CCL1 expression promotes M1 macrophage recruitment and IL-6 production, shaping an immune-permissive microenvironment that supports metastatic progression and maintenance of tumor stemness. This comprehensive investigation highlights actionable therapeutic targets within both tumor cells and their immune niche, offering translational insights for the development of multimodal treatment strategies against this aggressive malignancy.</p>","PeriodicalId":7437,"journal":{"name":"American journal of cancer research","volume":"15 5","pages":"2397-2412"},"PeriodicalIF":3.6,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12163434/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144300971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Microwave ablation versus bleomycin-lipiodol emulsion with gelatin sponge embolization for hepatic hemangioma: efficacy and recovery outcomes in a retrospective cohort study.","authors":"Yu Gong, Jian Zhang, Baohua Sun","doi":"10.62347/KYOM6165","DOIUrl":"10.62347/KYOM6165","url":null,"abstract":"<p><strong>Objective: </strong>To compare the efficacy and postoperative recovery outcomes of microwave ablation (MWA) and transcatheter arterial embolization (TAE) using a bleomycin-lipiodol emulsion combined with gelatin sponge particles in the treatment of hepatic hemangioma.</p><p><strong>Methods: </strong>In this retrospective study, 255 patients with hepatic hemangioma treated between January 2020 and June 2024 were analyzed. Patients were assigned to either the MWA group (n = 135) or the TAE group (n = 120). Evaluated parameters included operative characteristics, liver function changes, recovery metrics, complications, treatment efficacy, quality of life, and patient satisfaction.</p><p><strong>Results: </strong>MWA resulted in a higher overall efficacy rate compared to TAE (76.30% vs. 61.67%, P = 0.011), but was associated with significantly elevated postoperative alanine aminotransferase (ALT) levels (P < 0.001), indicating greater hepatocellular injury. Although ablation procedures were longer (P = 0.005), they were associated with reduced intraoperative blood loss (P = 0.010). TAE was linked to faster recovery, reflected in shorter hospital stays (P = 0.003). The MWA group experienced fewer overall complications, though hemolysis was uniquely observed in this cohort. The TAE group had higher rates of fever and ischemic events. Both groups showed improved quality of life post-treatment, with the MWA group demonstrating greater gains in physical functioning (P = 0.004). Patient satisfaction was comparable between groups.</p><p><strong>Conclusion: </strong>MWA and TAE are both effective treatment options for hepatic hemangioma, each with distinct advantages. MWA offers superior lesion control at the expense of greater hepatic stress, while TAE facilitates quicker recovery with a higher incidence of transient complications.</p>","PeriodicalId":7437,"journal":{"name":"American journal of cancer research","volume":"15 5","pages":"2319-2331"},"PeriodicalIF":3.6,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12163437/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144300981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Circular RNA hsa_circ_103089 modulates metabolic glycolysis and influences migration, invasion, and cisplatin sensitivity in non-small cell lung cancer cells via the miR-876-5p/EGFR axis.","authors":"Yong Zhou, Xiaoxiao Zhu, Zhongkai Tong, Cenli Wang, Xiaofei Liang, Zhenyan Li, Lin He, Chunli Wu, Zhaoxing Dong","doi":"10.62347/PXHT9575","DOIUrl":"10.62347/PXHT9575","url":null,"abstract":"<p><p>Lung cancer, particularly non-small cell lung cancer (NSCLC), remains a leading cause of cancer-related mortality worldwide, driven by complex molecular mechanisms including metabolic reprogramming and chemoresistance. Circular RNAs (circRNAs) have emerged as key regulators in cancer progression, yet their specific roles in NSCLC are underexplored. This study identified hsa_circ_103089 as a novel circRNA upregulated in NSCLC tissues and cell lines through circRNA profiling using the Gene Expression Omnibus (GEO) database. We aimed to investigate its functional roles and molecular mechanisms in NSCLC progression and cisplatin (DDP) sensitivity. Using A549 and HCC827 cell lines, we assessed the effects of hsa_circ_103089 silencing on proliferation, migration, invasion, glycolysis, and DDP resistance via techniques such as dual-luciferase reporter assays, RNA pull-down, Western blotting, and in vivo xenograft models. Results revealed that hsa_circ_103089 silencing suppressed tumor cell malignancy and glycolysis while enhancing DDP sensitivity. Mechanistically, hsa_circ_103089 acts as a sponge for miR-876-5p, upregulating EGFR expression and downstream glycolysis-related genes (e.g., LDHA, HK2, GLUT1). In vivo, hsa_circ_103089 knockdown inhibited tumor growth and potentiated DDP efficacy in nude mice. Clinically, high hsa_circ_103089 expression correlated with poor prognosis in NSCLC patients. These findings establish hsa_circ_103089 as a critical regulator of NSCLC progression and chemoresistance via the miR-876-5p/EGFR axis, highlighting its potential as a prognostic biomarker and therapeutic target.</p>","PeriodicalId":7437,"journal":{"name":"American journal of cancer research","volume":"15 5","pages":"2353-2374"},"PeriodicalIF":3.6,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12163446/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144300961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive analysis of clinical phenotype and genetic characteristics of retinoblastoma caused by <i>RB1</i> gene mutation: a case series.","authors":"Zheng Fu, Yang Liu, Hui Yang, Weiwei Xiong, Xue Yin, Weifang Fang, Xiuting Li, Xixiang Wei, Jianzhang Hu","doi":"10.62347/GVHN8345","DOIUrl":"10.62347/GVHN8345","url":null,"abstract":"<p><p>This study aimed to summarize the clinical and genetic characteristics of retinoblastoma associated with newly identified RB1 gene mutations. We retrospectively analyzed 15 pediatric patients diagnosed with retinoblastoma caused by RB1 mutations. A total of 25 affected eyes were examined (8 males, 7 females). The age at diagnosis ranged from 7 to 36 months (mean 16.00 ± 8.61 months). Bilateral involvement was observed in 10 patients, and unilateral in 5. Thirteen patients presented with leukocoria, while 2 were diagnosed during routine physical examinations due to vision loss. None of the patients had a family history of retinoblastoma. Whole-exome sequencing revealed heterozygous RB1 mutations in 14 cases and a mosaic mutation in one case. Five novel mutations not previously reported in the literature were identified: c.608-1G>A, c.1818T>A, c.962dupA, c.2086A>T, and c.574A>T. All patients received treatment, including intra-arterial chemotherapy, cryotherapy, photocoagulation, systemic chemotherapy, and/or enucleation. The follow-up duration ranged from 12 to 132 months, with a mean of 39.20 ± 24.07 months. Genetic testing remains a valuable tool for confirming RB1 mutations. Expanding the RB1 mutation spectrum may facilitate early diagnosis, personalized treatment, and informed genetic counseling for affected children.</p>","PeriodicalId":7437,"journal":{"name":"American journal of cancer research","volume":"15 5","pages":"2332-2337"},"PeriodicalIF":3.6,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12163462/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144300964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}