BJC reports最新文献

{"title":"Sleep hygiene in patients with early-stage breast cancer: a short report.","authors":"Ella Vallely, Catherine S Weadick, Teresa Treacy, Seamus O'Reilly","doi":"10.1038/s44276-025-00196-5","DOIUrl":"10.1038/s44276-025-00196-5","url":null,"abstract":"<p><strong>Background: </strong>A previously conducted study reported that insomnia rates among oncology patients in Ireland are twice that of the general population, and that a breast cancer diagnosis was an independent predictor for clinical insomnia disorder. The aim of this study is to explore this interaction further in a larger cohort of breast cancer patients.</p><p><strong>Methods: </strong>We evaluated sleep disturbance and sleep hygiene practices among adult breast cancer patients via questionnaires. Sociodemographic data, clinical characteristics, sleep history and attitudes towards sleep assessments were collected and analysed.</p><p><strong>Results: </strong>The comprehensive 40-item questionnaire was completed by 315 patients. Of this cohort, 56% reported a change in their sleeping patterns since their cancer diagnosis, with over 55% of the study population having sub-threshold or clinical insomnia disorder. Although 64.2% of patients believed that questions regarding sleep should be part of breast cancer assessment, only 32% recalled being asked about sleep by a healthcare worker. Moreover, only 27.1% of respondents felt their sleeping difficulties were adequately dealt with since their diagnosis.</p><p><strong>Conclusion: </strong>In summary, sleep disturbance is prevalent among breast cancer patients. Despite a majority of breast cancer patients recognising the importance of sleep assessment, a significant gap remains in healthcare providers addressing these concerns effectively.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"84"},"PeriodicalIF":0.0,"publicationDate":"2025-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12717167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145795895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A prospective observational study of pancreatic cancer risk in men and women with pathogenic variants in BRCA1 or BRCA2.","authors":"Eli Marie Grindedal, Manuela Zucknick, Sigrid Tronsli Hovland, Tom K Grimsrud, Lovise Mæhle","doi":"10.1038/s44276-025-00199-2","DOIUrl":"10.1038/s44276-025-00199-2","url":null,"abstract":"<p><strong>Background: </strong>BRCA1 and BRCA2 carriers have increased risk of pancreatic cancer (PC). We have studied prospective incidence rate and cumulative risk of PC in a large cohort of confirmed carriers.</p><p><strong>Methods: </strong>BRCA1/2 carriers without PC prior to genetic testing were identified from the clinical registry at Section for Hereditary Cancer, Oslo University Hospital. Cancer diagnoses were collected from Cancer Registry of Norway (CRN). Standardized incidence ratios (SIRs) were derived from national reference rates. The Kaplan-Meier method was used to calculate cumulative risk.</p><p><strong>Results: </strong>Among 2681 BRCA1 carriers, we observed 13 cases versus 4.73 expected (SIR 2.75, 95% CI 1.46-4,70). In 1476 BRCA2 carriers, we observed 9 cases versus 1.89 expected (SIR 4.76, 95% CI 2.18-9.04). Suggestively, there were higher risks among female BRCA2 carriers (SIR 6.52, 95% CI 2.82-12.85, 8 cases) and male BRCA1 carriers (SIR 5.51, 95% CI 2.52-10.47, 9 cases), who had cumulative risks at 70 years of 1.2% and 2.5% respectively.</p><p><strong>Conclusions: </strong>BRCA1/2 carriers had three times more cases of PC than expected, suggestively higher among female BRCA2 and male BRCA1 carriers. Cumulative risk of PC at 70 years in the latter two groups was less than 3% (0.5% and 0.7% in all Norwegian males and females observed until age 70 based on population data).</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"83"},"PeriodicalIF":0.0,"publicationDate":"2025-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12701057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145746355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"'Is it my last Christmas?' Using real-world data as a prompt to reflect on goal-concordant advanced lung cancer care-a retrospective, longitudinal study.","authors":"Clara Forrest, Julie Twomey, Mansoor Qayoumi, Alex Bryan, Dearbhaile C Collins, Sinead Noonan, Karie Dennehy, Siobhán Gaynor, Pauline O'Dea, Hazel O'Sullivan, Seamus O'Reilly","doi":"10.1038/s44276-025-00169-8","DOIUrl":"10.1038/s44276-025-00169-8","url":null,"abstract":"<p><strong>Objectives: </strong>Advanced non-small cell lung cancer (NSCLC) treatment paradigms include prolonged systemic anti-cancer therapy (SACT) courses. Treatment breaks during significant life events may align with patients' care goals but are poorly studied. We evaluated the temporal patterns of palliative SACT received by NSCLC patients during Christmas 2006-2023, a period during which treatment options increased.</p><p><strong>Methods: </strong>A retrospective, longitudinal study using electronic records examined palliative SACT for NSCLC in the month of December 2006-2023. It was conducted in a hospital designated as a European Society of Medical Oncology Designated Centre of Integrated Oncology and Palliative Care Services.</p><p><strong>Results: </strong>In December 2006-2023, 250 patients with NSCLC received palliative SACT with a mean age of 65.5 years (range: 36-94). Adenocarcinoma constituted 171 cases, and 188 patients were stage IV. During their last Christmas, 53% received palliative SACT (n = 133/250), 4% died within 30 days of treatment (n = 5/133) and 5% spent their last Christmas Eve/Day and/or Boxing Day admitted in hospital (n = 7/133). The proportion of those alive the following Christmas increased over the study period (p < 0.001).</p><p><strong>Conclusions: </strong>Most advanced NSCLC patients received palliative SACT during their last Christmas, reflecting the need for greater cognisance of goal-concordant care and for studies to provide an evidence basis for treatment breaks.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"71"},"PeriodicalIF":0.0,"publicationDate":"2025-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12635393/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145567044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adherence to the 2018 World Cancer Research Fund/American Institute for Cancer Research Cancer Prevention Recommendations and risk of lifestyle-related cancers in the prostate, lung, colorectal, and ovarian cancer screening trial.","authors":"Fiona C Malcomson, Marissa M Shams-White, Jill Reedy, Wen-Yi Huang, Steven C Moore, Erikka Loftfield","doi":"10.1038/s44276-025-00195-6","DOIUrl":"10.1038/s44276-025-00195-6","url":null,"abstract":"<p><strong>Background: </strong>The 2018 World Cancer Research Fund (WCRF)/American Institute for Cancer Research (AICR) Cancer Prevention Recommendations aim to lower cancer incidence. Our study explored associations between adherence to these Recommendations and the risk of first cancer incidence in a US cohort.</p><p><strong>Methods: </strong>Prostate, Lung, Colorectal and Ovarian (PLCO) Cancer Screening Trial Study participants who were cancer-free at baseline and who had height, weight, physical activity, diet, and alcohol data to estimate the standardized 2018 WCRF/AICR Score (n = 69,061) were included. Associations between Score and cancer endpoints, including any cancers, any of the 17 WCRF/AICR-reviewed cancers, and individual cancer sites were investigated using multivariable Cox proportional hazard models, adjusting for covariates.</p><p><strong>Results: </strong>Mean Score was 3.55 points (range 0-7). During a median follow-up of 10 years, 11,109 participants developed cancer. The 2018 WCRF/AICR Score was significantly inversely associated with risk of any cancers (HR per 1-point increment:0.97; 95% CI: 0.95-0.99), any of the 17 WCRF/AICR-reviewed cancers (HR: 0.97; 95% CI: 0.95-0.99), pancreatic (HR:0.86; 95% CI: 0.78-0.96), and breast (HR:0.91; 95% CI: 0.87-0.96) cancers.</p><p><strong>Discussion: </strong>Our findings support adherence to the WCRF/AICR Cancer Prevention Recommendations for reducing risk of cancer incidence, particularly breast and pancreatic cancers, in the US.</p><p><strong>Clinical registration numbers: </strong>The PLCO Cancer Screening Trial is registered with ClinicalTrials.gov: NCT00002540 (Prostate), NCT01696968 (Lung), NCT01696981 (Colorectal), NCT01696994 (Ovarian), and NCT00339495 (EEMS).</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"81"},"PeriodicalIF":0.0,"publicationDate":"2025-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12630754/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145558712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tumor cell-intrinsic PD-1 regulates chemotherapy resistance in colorectal cancer cells by activating downstream MAPK signaling.","authors":"Ho Kit Mok, Sophie Sneddon, Jianhua Ren, Donald T T Yapp, Isabella T Tai","doi":"10.1038/s44276-025-00185-8","DOIUrl":"10.1038/s44276-025-00185-8","url":null,"abstract":"<p><strong>Background: </strong>Colorectal cancer (CRC) remains a significant clinical challenge. Immunotherapy against programmed cell death 1 protein (PD-1) in CRC has limited success. Intriguingly, CRC cells express PD-1 (ciPD-1) intrinsically, and we report here its function with respect to chemotherapy.</p><p><strong>Methods: </strong>We evaluated the associations between ciPD-1 expression and disease progression, overall survival, and upregulation of survival pathways in human CRC tumors. Expression levels of ciPD-1 in CRC cells were modulated to evaluate its biological role in vitro.</p><p><strong>Results: </strong>High expression levels of PD-1 in CRC tumors are associated with inferior outcomes; these tumors are also more aggressive and drug-resistant. Expression levels of ciPD-1 in CRC cells increase during 5-FU or CPT-11 treatment and are accompanied by upregulation of cell survival pathways. When ciPD-1 is inhibited, the cell-killing effects of 5-FU or CPT-11 were significantly increased. Our data show that ciPD-1 signaling occurs via MAPK signaling in CRC cells to support survival under stress conditions.</p><p><strong>Conclusions: </strong>CRC tumors with high levels of ciPD-1 are more aggressive and associated with inferior outcomes. Reducing ciPD-1 levels in CRC cells make them more sensitive to chemotherapy. The aggregate results suggest that using a PD-1 inhibitor with first-line treatments in CRC could improve therapeutic efficacy. Proposed biological role of ciPD-1 in CRC cells. After exposure to chemotherapy, radiotherapy, or nutrient deprivation, ciPD-1 expression is elevated in CRC cells. Subsequently, ciPD-1 activates MAPK and AKT signaling pathways to increase proliferation and differentiation, resulting in drug resistance and tumor growth in CRC cells. The administration of anti-PD-1 immunotherapy with chemotherapy in CRC cells could abrogate ciPD-1 activity and enhance the efficacy of chemotherapy to overcome resistance.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"82"},"PeriodicalIF":0.0,"publicationDate":"2025-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12630890/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145558774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Introduction of whole genome sequencing as NHS standard of care for glioma patients in two neurosurgical oncology centres: West Midlands.","authors":"Victoria Wykes, Erminia Albanese, Vassili Crispi, Sana Manan, Taufiq Khan, Naomi Cole, Christine Bennett, Lowri Hughes, Natasha Vafadar, Vinton Cheng, Ute Pohl, Manoj Raghavan, Yvonne Wallis, Colin Watts","doi":"10.1038/s44276-025-00168-9","DOIUrl":"10.1038/s44276-025-00168-9","url":null,"abstract":"<p><strong>Background: </strong>The challenges of introducing Whole Genome Sequencing (WGS) as NHS standard of care for patients with glioma are reviewed.</p><p><strong>Methods: </strong>Patients undergoing glioma surgery with WGS sampling were identified retrospectively from WGS reports between 01/01/2022-30/12/2023. Data including demographics, integrated molecular diagnosis, time through critical pathway steps per calendar quarter (Q) and WGS variants were captured from electronic health records.</p><p><strong>Results: </strong>146 glioma samples were analysed. 91% of patients underwent craniotomy and 1 cm³ tumour sampled for WGS, with median tumour content (MTC) of 69.5% (IQR + /- 30.5). The remainder underwent stereotactic needle biopsy, and one core sampled for WGS, with MTC of 73% (IQR + /- 19%). Median time from tumour sampling to completion of WGS report in Q1:2022 was 255 days (IQR + /- 107.5) versus in Q4:2023 was 137 days (IQR + /- 60.5; p < 0.001). 26/146 (17.8%) patients had molecular variants leading to trial recommendation. 1 patient with glioblastoma and high Tumour Mutational Burden commenced anti-PD1 immunotherapy. 8 patients with glioblastoma had RB1 variants associated with improved progression-free survival.</p><p><strong>Conclusions: </strong>WGS is feasible for patients undergoing biopsy or craniotomy. NHS infrastructural resources and improvement of WGS technologies are required to improve turnaround time and ensure equitable access for all patients with glioma.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"79"},"PeriodicalIF":0.0,"publicationDate":"2025-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12606122/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145497861","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cancer care disparities among patients with limited English proficiency: challenges and strategies for equity.","authors":"Hye Sung Kim, Carly Irwin, Arjun S Ulag, Siddhartha Devarakonda","doi":"10.1038/s44276-025-00187-6","DOIUrl":"10.1038/s44276-025-00187-6","url":null,"abstract":"<p><p>As the population of individuals with limited English proficiency (LEP) continues to rise in the United States, language barriers have become an increasingly important yet underrecognized driver of disparities in cancer care. This review aims to synthesize current evidence on how LEP affects the cancer care continuum and to offer actionable strategies to promote equity. We conducted a comprehensive review of the literature spanning communication, diagnosis, treatment, outcomes, prevention, research participation, and policy related to LEP populations in oncology. LEP is associated with poorer cancer outcomes, including delayed diagnosis, lower treatment adherence, decreased access to supportive services, and reduced quality of life. These disparities stem from multilevel communication barriers, underuse of professional interpretation, cultural discordance, and limited institutional support for language-concordant care. LEP patients are also underrepresented in cancer research due to language-based exclusion criteria, inadequate translation resources, and provider burden. A multifaceted framework is needed to address LEP-related disparities in oncology. Key strategies include expanding language-concordant care teams, improving interpreter and translation services, designing inclusive research protocols, and embedding language equity into institutional safety culture and policy. Addressing these disparities is a clinical, ethical, and public health imperative requiring systemic investment and leadership.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"80"},"PeriodicalIF":0.0,"publicationDate":"2025-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12606142/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145497786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bone marrow evaluation in neuroblastomas: bone marrow aspirates have little additional value over trephine biopsies.","authors":"R S Bruinsma, A van Barneveld, B W Meussen, M Fiocco, A M Heijlaerts-Klever, G den Engelsman, M P Dierselhuis, G A M Tytgat, M M van Noesel, M H W A Wijnen, R R de Krijger, A F W van der Steeg","doi":"10.1038/s44276-025-00194-7","DOIUrl":"10.1038/s44276-025-00194-7","url":null,"abstract":"<p><strong>Background: </strong>Bone marrow involvement is essential for staging, treatment evaluation, and progression/relapse detection in neuroblastoma patients. We investigated the diagnostic accuracy of trephine biopsies (TBs) and the additional value of bone marrow aspirate (BMA) cytomorphology, considering clinical implications.</p><p><strong>Methods: </strong>Data were collected from patients diagnosed at our centre over a seven-year period. Complete bone marrow evaluation (bilateral TBs and BMAs) was performed at diagnosis and at predefined timepoints. Cohen's kappa was used to compare test results. Representativeness was assessed for each TB and BMA and the presence or absence of tumour infiltration was reported.</p><p><strong>Results: </strong>In total, 197 neuroblastoma patients underwent bone marrow evaluation, yielding 1880 biopsies (947 procedures) and 1856 aspirates (934 procedures). TBs were representative in 94.9%, BMAs in 76.8% and complete bone marrow evaluation in 98.4%. Bone marrow infiltration was reported in 40.1%. TBs reported infiltration in 35.5% and BMAs in 19.7%. There was almost perfect agreement between TBs and complete evaluation (κ = 0.901, p < 0.001).</p><p><strong>Conclusion: </strong>TBs showed higher sensitivity and representativity than BMA cytomorphology. In 4.6% of procedures, BMAs were positive while TBs were negative, but this never led to treatment alteration. These findings suggest that bilateral TBs alone may be sufficient to detect bone marrow involvement.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"77"},"PeriodicalIF":0.0,"publicationDate":"2025-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12592326/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145460624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Somatic DICER1 pathogenic variants detected in a well-differentiated fetal lung adenocarcinoma diagnosed in a man with familial adenomatous polyposis.","authors":"Afrida Ahmed, Paul S Thorner, Anne-Laure Chong, Naciba Benlimame, David Szlachtycz, George Chong, Sophie Camilleri-Broët, William D Foulkes","doi":"10.1038/s44276-025-00192-9","DOIUrl":"10.1038/s44276-025-00192-9","url":null,"abstract":"<p><p>Well-differentiated fetal lung adenocarcinoma (WDFLAC) is a rare pulmonary carcinoma characterized by its resemblance to fetal lung. It is thought to be caused by somatic pathogenic variants (PVs) in the genes CTNNB1 or APC, which lead to the nuclear accumulation of beta(β)-catenin and down-stream activation of key oncogenes. Recent studies, however, have shown that germline and/or somatic PVs in DICER1 are also implicated in the etiology of lung tumors with fetal-type morphologies. Here, we report the second case of WDFLAC in a male non-smoker with familial adenomatous polyposis (FAP), and the first case with confirmed inactivating PVs in both APC and DICER1. A review of the literature also showed that out of the 17 WDFLAC cases for which sequencing of DICER1, CTNNB1 and/or APC was performed, 13 had PVs in DICER1 and either CTNNB1 or APC, with one patient having all three genes mutated. Taken together, this suggests that the development of WDFLAC may be the summative effect of WNT and DICER1 dysfunction. It may thus be beneficial to test for DICER1 variants in diagnostically challenging cases and, if a germline DICER1 PV is found, additional screening for DICER1-associated tumors could be pursued.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"78"},"PeriodicalIF":0.0,"publicationDate":"2025-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12592696/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145460613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transcriptome profiling of uterine leiomyosarcomas identifies a leiomyoma-like expression pattern that indicates better survival.","authors":"Sara Khamaiseh, Riitta Koivisto-Korander, Nora Schreiber, Esa Pitkänen, Terhi Ahvenainen, Ralf Bützow, Miika Mehine, Pia Vahteristo","doi":"10.1038/s44276-025-00190-x","DOIUrl":"10.1038/s44276-025-00190-x","url":null,"abstract":"<p><strong>Background: </strong>Uterine leiomyosarcomas are rare and aggressive cancers with poor survival. Their non-cancerous counterparts, uterine leiomyomas, are common tumors affecting many women during reproductive years. Distinguishing leiomyosarcomas from leiomyomas remains a diagnostic challenge. This study aimed to identify molecular biomarkers that differentiate leiomyosarcomas from leiomyomas and to assess their prognostic value.</p><p><strong>Methods: </strong>We analyzed 3'RNA sequencing data from 51 leiomyosarcomas and 44 leiomyomas with differential gene expression analysis and machine learning to identify diagnostic biomarkers. We utilized immunohistochemistry to validate the findings. We used Kaplan-Meier and Cox regression models to assess disease-specific survival in leiomyosarcoma patients.</p><p><strong>Results: </strong>Leiomyosarcomas exhibited significant dysregulation of the retinoblastoma and cell cycle pathways. Clustering based on retinoblastoma pathway genes identified a subset of leiomyosarcomas with a leiomyoma-like expression profile that associated with better survival. Machine learning-based classification identified genes with high predictive accuracy, including genes from the retinoblastoma pathway. Immunohistochemistry validated TOP2A and CDK1 as potential diagnostic biomarkers, and their higher expression was associated with worse survival. Leiomyoma driver alterations were found in 27% of leiomyosarcomas, but these showed no association with survival.</p><p><strong>Conclusion: </strong>Our results reveal molecular heterogeneity in uterine leiomyosarcomas and provide potential diagnostic and prognostic biomarkers for improved patient management.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"76"},"PeriodicalIF":0.0,"publicationDate":"2025-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12572308/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145403697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}