Radiology and Oncology最新文献

{"title":"EPHA3, upregulated in high-risk histological subtypes of gastrointestinal stromal tumor, promotes GIST progression.","authors":"Han Wei, Jia Zhao, Hongmei Wang, Lihong Guo, Yanhong Liu, Chuntao Wang, Liang Yang, Zhi Qi, Wencong Tian, Lei Cao, Yang Gao","doi":"10.2478/raon-2026-0042","DOIUrl":"10.2478/raon-2026-0042","url":null,"abstract":"<p><strong>Background: </strong>To explore the expression pattern and functional role of EPH receptor A3 (EPHA3) in high-risk gastrointestinal stromal tumors (GISTs) and its potential relevance to tumor progression.</p><p><strong>Materials and methods: </strong>Immunohistochemical (IHC) analysis was performed to evaluate EPHA3 expression across a pilot cohort of clinical GIST specimens with different risk stratifications. The biological functions of EPHA3 <i>in vitro</i> were assessed using (5-ethynyl-2'-deoxyuridine, EdU) assay, colony formation, apoptosis, wound-healing, and transwell assays in EPHA3-knockout GIST-430 cells. Furthermore, RNA sequencing (RNA-seq) analysis was utilized to identify differentially expressed genes and associated signaling pathways following EPHA3 knockout.</p><p><strong>Results: </strong>EPHA3 expression was found to be elevated in high-risk GIST specimens compared with intermediate-risk cases. Loss-of-function assays demonstrated that EPHA3 knockout attenuated cell proliferation and migration while promoting apoptosis <i>in vitro</i>. Pathway enrichment analysis suggested that EPHA3 expression is associated with cell adhesion, extracellular matrix interaction, and mesenchymal-related phenotypic remodeling.</p><p><strong>Conclusions: </strong>Our findings suggest that EPHA3 is upregulated in high-risk GIST and contributes to aggressive cellular behavior <i>in vitro</i>. These preliminary data indicate that EPHA3 may play a role in the malignant progression of GIST, although its clinical utility as a biomarker requires further validation in larger cohorts.</p>","PeriodicalId":21034,"journal":{"name":"Radiology and Oncology","volume":"60 3","pages":"416-426"},"PeriodicalIF":2.3,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13548678/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148901055","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative assessment of hydration status in intestinal failure patients receiving home parenteral nutrition using different bioimpedance analysis devices.","authors":"Taja Jordan, Jernej Ogrin, Nada Rotovnik Kozjek","doi":"10.2478/raon-2026-0048","DOIUrl":"https://doi.org/10.2478/raon-2026-0048","url":null,"abstract":"<p><strong>Background: </strong>Intestinal failure patients receiving home parenteral nutrition (HPN) are at high risk of dehydration and malnutrition. To optimize clinical care, accurate monitoring tools are required. This study aimed to compare the accuracy of two bioelectrical impedance analysis (BIA) devices, one that offers only BIA results and the other that offers BIA results of bioelectrical impedance vector analysis (BIVA) and bioelectrical impedance spectroscopy (BIS), in assessing hydration and nutritional status in HPN patients.</p><p><strong>Patients and methods: </strong>In a cross-sectional study, 55 adult HPN patients (33 males, 22 females; mean age 61.5 ±13.1 years) underwent BIA measurements using both devices during routine visits. Parameters measured included total body water (TBW), intracellular and extracellular water, fat-free mass, fat mass, and phase angle. Serum urea and creatinine served as hydration markers. Paired t-tests, Mann-Whitney U tests, and Spearman correlations were used for analysis.</p><p><strong>Results: </strong>The BIA/BIVA/BIS analysis indicated dehydration in 69.1% of patients compared to 29.1% by BIA (p < 0.001) and showed stronger correlations with serum urea. It also classified more patients as malnourished (24.4% vs. 16.4%, p = 0.436). Correlation between hydration status and phase angle was more pronounced when using phase angle determined with BIA/BIVA/BIS.</p><p><strong>Conclusions: </strong>BIA/BIVA/BIS measurements in the study demonstrated superior sensitivity in detecting dehydration and assessing nutritional status in HPN patients in comparison to BIA, supporting its use for improved clinical monitoring and management in this group of patients.</p>","PeriodicalId":21034,"journal":{"name":"Radiology and Oncology","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148901023","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Real-world data survival outcomes of first line immunotherapy with pembrolizumab in high expressers with stage IV non-small cell lung cancer.","authors":"Vladimir Stojsic, Bojan Zaric, Petar Simurdic, Tomi Kovacevic, Darijo Bokan, Jelena Djekic Malbasa, Tatjana Sarcev, Goran Stojanovic, Daliborka Bursac, Borislava Nikolin","doi":"10.2478/raon-2026-0050","DOIUrl":"10.2478/raon-2026-0050","url":null,"abstract":"<p><strong>Background: </strong>Pembrolizumab monotherapy is standard of care in first line treatment of patients with stage IV lung cancer and programmed death ligand 1 (PD-L1) expression ≥ 50%. Whether the higher levels of PD-L1 expression predict higher benefit from the treatment with pembrolizumab is still debatable.</p><p><strong>Patients and methods: </strong>This trial analyzed clinical and pathological characteristics, overall response rate (ORR), and survival outcomes in patients with non-small cell lung cancer (NSCLC) and PD-L1 expression of ≥ 50% who received front line treatment with pembrolizumab in real-world setting. The aim was to evaluate does the level of expression influence survival endpoints.</p><p><strong>Results: </strong>Fifty-one consecutive patients were evaluated in this study. The median PFS for patients in this study was 12.0 months (95% CI, 7.7-16.2 months), and the median OS was 21.0 months (95% CI, 9.6-32.3 months). Based on PD-L1 status patients were divided into two groups. First one with PD-L1 expression of 50%-79%, and the second with expression over 80%. Gender distribution between the two groups (p = 0.029) and difference in stage of the disease (p = 0.039) were statistically significant. There was no significant difference in progression free survival (p = 0.548) and overall survival (p = 0.153) between two groups.</p><p><strong>Conclusions: </strong>This trial did not confirm relation between higher expression of PD-L1 and better survival outcomes. However, the pitfall of the trial was relatively small number of patients, so with the expansion of this real-world data (RWD) dataset future results might differ.</p>","PeriodicalId":21034,"journal":{"name":"Radiology and Oncology","volume":"60 3","pages":"450-458"},"PeriodicalIF":2.3,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13554301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148912660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of the effects of individualized nutrition and physical activities on body composition during the treatment of breast cancer patients.","authors":"Rok Blaz, Masa Kovac, Nada Rotovnik Kozjek","doi":"10.2478/raon-2026-0046","DOIUrl":"10.2478/raon-2026-0046","url":null,"abstract":"<p><strong>Background: </strong>Malnutrition and loss of skeletal muscle mass are common in breast cancer patients and represent negative prognostic factors. Combined nutrition and exercise interventions may help preserve body composition during treatment. The aim of this study was to evaluate the effects of a targeted nutritional and exercise intervention on body composition, assessed by Bioelectrical Impedance Analysis (BIA), in breast cancer patients undergoing treatment, stratified by baseline nutritional status according to the Global Leadership Initiative on Malnutrition (GLIM) criteria.</p><p><strong>Patients and methods: </strong>In this retrospective analysis of the OREH pilot study, 287 patients were included in the intervention group and 194 in the control group. All patients underwent BIA measurements at baseline, 6 months, and 12 months. Malnourished patients (GLIM-positive) in both groups received individualized nutritional counseling as standard care. GLIM-negative patients in the intervention group received preventive nutritional counseling via online lectures. All intervention group patients participated in supervised group exercise. Differences in BIA parameters (fat-free mass index, phase angle, fat mass, total body water, and body mass index) between the 3rd and 1st measurements were compared using Welch's t-test, with p-values adjusted by the Bonferroni-Holm method.</p><p><strong>Results: </strong>No statistically significant differences in body composition parameters were observed between the intervention and control groups over the 12-month follow-up period. The adjusted p-value for fat-free mass index (FFMI) was 0.2 in GLIM-positive patients and 1.0 in GLIM-negative patients. A trend toward greater FFMI increase was observed in GLIM-positive patients in the intervention group compared to controls (mean difference 0.30; 95% CI 0.05-0.54; unadjusted p = 0.017), but this did not remain significant after correction for multiple comparisons.</p><p><strong>Conclusions: </strong>The combined nutritional and exercise intervention did not significantly improve BIA-derived body composition parameters. However, the trend toward FFMI improvement in GLIM-positive patients receiving individualized nutritional counseling suggests that personalized approaches may be more effective than group-based interventions. Future studies should incorporate individualized nutrition and resistance training programs to optimize body composition outcomes in breast cancer patients.</p>","PeriodicalId":21034,"journal":{"name":"Radiology and Oncology","volume":"60 3","pages":"459-470"},"PeriodicalIF":2.3,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13548673/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148901032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Luciferase-induced immune activation prevents orthotopic K7M2luc osteosarcoma establishment in BALB/c mice.","authors":"Sasa Kupcic, Urska Kamensek, Maja Cemazar, Ursa Lampreht Tratar","doi":"10.2478/raon-2026-0049","DOIUrl":"10.2478/raon-2026-0049","url":null,"abstract":"<p><strong>Background: </strong>Use of murine orthotopic tumor models dictates utilization of luciferase-expressing cells for <i>in vivo</i> bioluminescence imaging. However, luciferase may trigger immune responses that impair tumor establishment.</p><p><strong>Materials and methods: </strong>We transduced K7M2 cells wild-type (wt) with luciferase gene and evaluated their growth <i>in vitro</i>. We then implanted cells orthotopically in BALB/c mice and upon unsuccessful tumor establishment assessed systemical and local mechanism for tumor growth suppression.</p><p><strong>Results: </strong>All investigated cell lines had a comparative doubling time <i>in vitro</i> at 24 and 48h. Despite that, K7M2luc E5 differed from K7M2luc A7 and K7M2 wt by having a much higher proliferation rate at 72h (35x, 15x and 17x). <i>In vivo</i>, both luciferase-expressing cell lines failed to establish tumors, whereas K7M2 wt had a 100% success rate. To investigate the underlying mechanism, we assessed systemic and local cell-mediated immunity. Mice in groups K7M2luc A7 and K7M2luc E5 had a higher fold change (5 ± 0.8 and 6 ± 1.05) of GrB secreting splenocytes than naïve mice (1 ± 0.2). In the bone microenvironment, luciferase groups exhibited elevated numbers of GrB-secreting cells and CD8⁺ T cells relative to K7M2 wt and naïve mice.</p><p><strong>Conclusions: </strong>These findings indicate that luciferase activates cytotoxic T-cell responses capable of eliminating implanted cells. Tumor establishment was restored in immunodeficient mice lacking CD8⁺ cells, confirming the immunemediated rejection.</p>","PeriodicalId":21034,"journal":{"name":"Radiology and Oncology","volume":"60 3","pages":"402-415"},"PeriodicalIF":2.3,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13548681/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148901000","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-thermal ablation and drug delivery by electroporation: expanding current indications beyond cancer and cardiac treatment.","authors":"Damijan Miklavcic, Helena Cindric, Rafael V Davalos, Frederic Deschamps, Julie Gehl, Bor Kos, Peter Kramar, Dimitrij Kuhelj, Martijn R Meijerink, Declan Soden, Miha Stabuc, Gregor Sersa","doi":"10.2478/raon-2026-0040","DOIUrl":"10.2478/raon-2026-0040","url":null,"abstract":"<p><strong>Background: </strong>Electroporation-Based Treatments and Therapies (EBTTs) - electrochemotherapy, irreversible electroporation, pulsed field ablation, and gene electro-transfer - use short, high-voltage electric pulses to permeabilize cell membranes, enabling non-thermal tissue ablation and enhanced local drug delivery. Although EBTTs have been used clinically for over three decades, primarily in oncology, their adoption remains limited compared to thermal ablation modalities. In contrast, cardiac pulsed field ablation (PFA) has seen rapid adoption since the first FDA device approval in December 2023.</p><p><strong>Conclusions: </strong>This expert opinion paper reviews the current clinical landscape of EBTTs in oncology and cardiac arrhythmia treatments, and focuses on emerging non-oncological and non-cardiac applications, including endoscopic pulsed electric field therapy for type 2 diabetes, bronchial rheoplasty for chronic bronchitis, bleomycin electrosclerotherapy for vascular malformations, nanosecond PFA for benign thyroid nodules, and electroporation-mediated gene delivery - and identifies key barriers to wider adoption: insufficient randomized evidence, lack of validated treatment planning tools, fragmented reimbursement, and limited standardization. We outline measures to facilitate clinical translation.</p>","PeriodicalId":21034,"journal":{"name":"Radiology and Oncology","volume":" ","pages":"307-322"},"PeriodicalIF":2.3,"publicationDate":"2026-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13548688/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148713545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic performance of whole-body diffusion-weighted imaging for staging esophageal cancer: a comparative study with PET-CT.","authors":"Xiaohu Xu, Rong Yu, Qiulian Ma, Tingting Yin, Haisheng Chen, Ye Qian, Hong Li, Rongxing Qi, Yachun Xu","doi":"10.2478/raon-2026-0037","DOIUrl":"10.2478/raon-2026-0037","url":null,"abstract":"<p><strong>Background: </strong>Accurate preoperative staging is crucial for selecting treatment strategies and assessing prognosis in esophageal cancer. Positron emission tomography-computed tomography (PET-CT) is currently recognized as an essential staging modality, whereas the value of whole-body diffusion-weighted imaging (WB-DWI), a radiation-free functional magnetic resonance imaging (MRI) technique in esophageal cancer staging remains unclear. The objective of the study was to conduct a head-to-head comparison of the diagnostic accuracy of WB-DWI versus PET-CT in the initial diagnosis of esophageal cancer patients for local T staging, regional lymph node (N) assessment, and distant metastasis (M) detection.</p><p><strong>Patients and methods: </strong>This study collected data from 96 patients with esophageal cancer who underwent pathological diagnosis and imaging evaluation at Haian People's Hospital between January 2023 and January 2025. Propensity Score Matching (PSM) was employed to balance confounding factors between groups, ultimately forming matched cohorts for analysis: the WB-DWI group (n = 32) and the PET-CT group (n = 32). Using postoperative pathology (PTNM) and/or 6-month follow-up clinical diagnosis as the gold standard, the following metrics were evaluated: T staging accuracy, N staging sensitivity/specificity, distant metastasis (M staging) detection rate, overall staging accuracy, image signal-to-noise ratio (SNR), examination duration, and inter-observer agreement (Kappa value). Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy were calculated for both methods. Diagnostic performance was analyzed using ROC curves, and the area under the curve (AUC) was compared via DeLong's test.</p><p><strong>Results: </strong>WB-DWI and PET-CT demonstrated comparable overall staging accuracy for esophageal cancer (84.4% <i>vs</i>. 87.5%, <i>p</i> > 0.05). For N staging, PET-CT demonstrated higher sensitivity (90.6% <i>vs</i>. 78.1%, <i>p</i> < 0.05), while both methods showed identical specificity (87.5%). In detecting distant metastases, PET-CT exhibited marginally higher detection rates and accuracy than WB-DWI, though differences were not statistically significant. WB-DWI demonstrated lower accuracy for T staging (71.9% <i>vs</i>. 84.4%, p < 0.05). WB-DWI images exhibited significantly lower SNR than PET-CT (<i>p</i> < 0.01), but the examination was shorter in duration and showed good inter-observer agreement (Kappa > 0.60, <i>p</i> < 0.001).</p><p><strong>Conclusions: </strong>WB-DWI demonstrates comparable overall efficacy to PET-CT in esophageal cancer staging. Although its sensitivity and efficiency are slightly lower, its radiation-free nature and high specificity make it a viable supplement or alternative to PET-CT for specific patient populations. These findings provide evidence for precise clinical selection.</p>","PeriodicalId":21034,"journal":{"name":"Radiology and Oncology","volume":" ","pages":"378-393"},"PeriodicalIF":2.3,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13548686/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148607079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Visual versus automated CT perfusion for outcome prediction in anterior circulation stroke treated with mechanical thrombectomy.","authors":"Igor Rigler, Tina Gspan, Alja Longo, Janja Pretnar Oblak","doi":"10.2478/raon-2026-0039","DOIUrl":"10.2478/raon-2026-0039","url":null,"abstract":"<p><strong>Background: </strong>The prognostic value of simple visual assessment of CT perfusion (CTP) for predicting clinical outcomes has already been demonstrated in stroke patients undergoing mechanical thrombectomy (MT). Automated software, however, has become the dominant method of CTP evaluation. The aim of the study was to compare the prognostic accuracy of visually graded CTP maps with automated CTP analysis on clinical outcomes in anterior circulation stroke patients treated with MT.</p><p><strong>Patients and methods: </strong>In the single centre we retrospectively analysed consecutive patients with anterior circulation large-vessel occlusion treated with MT. Baseline imaging included non-contrast brain CT, CT angiography (CTA) with collateral status (CS) and CTP. Time to peak (TTP) maps were visually graded on a four-level ordinal scale based on estimated penumbra. Automated CTP was processed with syngo.via (SYV) using default thresholds and classified on a comparable ordinal scale. The primary endpoint was favourable 90-day functional outcome (Rankin Scale (mRS) ≤ 3).</p><p><strong>Results: </strong>We included 579 patients. Agreement between visual and automated CTP was fair (κ = 0.36). Both methods were significantly associated with favourable outcome (p < 0.01), with visual grading showing a slightly stronger association (Pearson χ² = 30 vs. 22). In multivariable models, visual CTP remained an independent predictor, whereas automated CTP lost significance when CS was included.</p><p><strong>Conclusions: </strong>Visual CTP grading provided a slightly better prognostic performance than automated CTP. Visual CTP assessment is a simple, accessible and clinically meaningful tool for both treatment decision making and outcome prediction in anterior circulation stroke treated with MT.</p>","PeriodicalId":21034,"journal":{"name":"Radiology and Oncology","volume":" ","pages":"394-401"},"PeriodicalIF":2.3,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13548676/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148607072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mechanical thrombectomy in acute lower limb ischaemia: beyond clot removal in an interventional radiology-oriented narrative review.","authors":"Jernej Lucev, Ales Slanic, Vojko Flis, Silva Breznik","doi":"10.2478/raon-2026-0038","DOIUrl":"https://doi.org/10.2478/raon-2026-0038","url":null,"abstract":"<p><strong>Background: </strong>Acute lower limb ischaemia (ALI) remains a time-critical vascular emergency associated with substantial risks of major amputation and early mortality. As contemporary interventional radiology increasingly incorporates aspiration, rotational, and pharmacomechanical thrombectomy, the key question is no longer whether mechanical thrombectomy (MT) can restore conduit flow, but how it should be positioned relative to catheter-directed thrombolysis (CDT), surgery, and hybrid therapy.</p><p><strong>Conclusions: </strong>This interventional radiology-oriented narrative review synthesizes current evidence on clinical staging, treatment selection, device classes, culprit-lesion management, post-revascularization antithrombotic treatment, and distal perfusion reassessment in ALI. Current data support MT as an important option, but not as a proven replacement for CDT or surgery. The main practical message is that successful ALI treatment requires more than clot removal: it requires correct staging, treatment of the lesion behind the thrombus, an individualized medical plan after revascularization, and recognition that limb salvage ultimately depends on restored tissue perfusion rather than conduit patency alone. Distal perfusion reassessment after thrombectomy and computed tomography angiography (CTA)-based planning are discussed as structured descriptive frameworks for reporting and future study rather than as validated algorithms.</p>","PeriodicalId":21034,"journal":{"name":"Radiology and Oncology","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148607042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic testing for cancer predisposition syndromes in pediatric cancer patients: current practices and recommendations - a systematic review.","authors":"Anja Urbas, Polona Usaj, Bostjan Seruga, Lorna Zadravec Zaletel, Mateja Krajc","doi":"10.2478/raon-2026-0031","DOIUrl":"10.2478/raon-2026-0031","url":null,"abstract":"<p><strong>Background: </strong>Childhood cancer is rare but remains a leading cause of disease-related mortality in children. Unlike adult malignancies, pediatric cancers often arise from inherited or de novo germline variants, with cancer predisposition syndromes (CPS) identified in approximately 7-15% of cases. Recognition of CPS is clinically important, as it affects treatment decisions, surveillance strategies, and family counseling.</p><p><strong>Materials and methods: </strong>Because genetic testing practices for hereditary CPS in pediatric cancer patients vary internationally, we conducted a systematic literature review to summarize current clinical practices and the most recent guidelines for genetic testing in children with cancer. PubMed searches (1994-2025) identified 106 articles; after screening and exclusions, 15 studies were included (13 original studies, one meta-analysis, and one review).</p><p><strong>Results: </strong>Included studies reported cohort sizes ranging from 31 to 3,975 participants, mainly pediatric cancer patients. The number of analyzed genes varied widely (1-1,048). Testing approaches ranged from single-gene testing to multigene panel testing, with multi gene panel testing most commonly used. The prevalence of pathogenic or likely pathogenic germline variants ranged from 2.99%to 47.5%, reflecting differences in cohort composition, gene panel size, and genetic testing methodology. Most guidelines recommend genetic testing based on clinical and biological selection criteria, while universal germline testing is generally not supported, except in Sweden, where whole genome sequencing is offered to all pediatric cancer patients.</p><p><strong>Conclusions: </strong>Phenotype-driven genetic testing currently provides the best resource-benefit balance, although ongoing technological advances may enable broader universal testing in the future.</p>","PeriodicalId":21034,"journal":{"name":"Radiology and Oncology","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148391575","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}