Journal of Thrombosis and Thrombolysis最新文献

{"title":"The role of activated partial thromboplastin time-clot waveform analysis in distinguishing positive samples of lupus anticoagulant from hemophilia A.","authors":"Nithye Parvathy, Debadrita Ray, Narender Kumar, Priya Punj, Vasant Kumar, Chander Hans, Jasmina Ahluwalia, Surjit Singh, Varun Dhir","doi":"10.1007/s11239-025-03128-9","DOIUrl":"https://doi.org/10.1007/s11239-025-03128-9","url":null,"abstract":"<p><strong>Introduction: </strong>Clot waveform analysis (CWA) is a technique that continuously monitors changes in light transmittance or absorbance during fibrin clot formation in plasma, enhancing routine clotting test assessment. Patients with Lupus Anticoagulant (LA) and Hemophilia A (HA) both exhibit isolated prolongation of activated partial thromboplastin time (aPTT); however, their management differs significantly. CWA can aid in distinguishing between these conditions, particularly in cases where standard coagulation tests are inconclusive and specialized assays are unavailable.</p><p><strong>Methods: </strong>This prospective case-control study included patients with demonstrable LA (n = 69), healthy controls (n = 75) and diseased controls [HA with (n = 16) and without inhibitor (n = 36).</p><p><strong>Results: </strong>The quantitative data of aPTT-CWA including velocity peak time, acceleration peak time and height of acceleration [-] were significantly lower in LA-positive samples with prolonged aPTT in comparison with HA without inhibitors. The qualitative data comprising Shoulder in 1st derivative, Biphasic wave in 2nd derivative [-] and Serrated wave pattern in 2nd derivative were significantly common in HA samples without inhibitors. In comparison to healthy controls, LA-positive patients with normal aPTT had significantly lower velocity peak time and height of velocity along with higher width of velocity. In acceleration peak time and width of acceleration [-] peak were significantly higher along with lower height of acceleration [+] and height of acceleration [-]. AUROCs of height of acceleration [-], width of acceleration [-] and width of velocity were statistically and biologically significant. The shoulder in 2nd derivative was significantly common in LA-positive samples.</p><p><strong>Conclusion: </strong>The aPTT-CWA has limited utility for differentiating LA positive from HA samples with and without inhibitors. However, aPTT-CWA may help in selecting patients with normal aPTT who merit further confirmatory testing for LA with a compatible history.</p>","PeriodicalId":17546,"journal":{"name":"Journal of Thrombosis and Thrombolysis","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Direct oral anticoagulants as secondary prophylaxis of venous thromboembolism in paroxysmal nocturnal hemoglobinuria: an Italian monocentric experience.","authors":"M Biglietto, A L Faccini, J Micozzi, M Salvatori, M Antonacci, U La Rocca, A P Iori, Antonio Chistolini","doi":"10.1007/s11239-025-03124-z","DOIUrl":"https://doi.org/10.1007/s11239-025-03124-z","url":null,"abstract":"<p><p>In 2011 Luzzatto et al. stated that \"Paroxysmal nocturnal hemoglobinuria (PNH) is the most vicious acquired thrombophilic state known in medicine\". Fourteen years later, although anti-complement therapy reduced the incidence of thrombotic events, their management remains an unmet clinical need. Historically Vitamin K Antagonists were the first-choice medications for anticoagulation in this setting. Nowadays, Direct Oral Anticoagulants (DOACs) are the standard anticoagulant therapy in most settings due to their predictable pharmacokinetics, fixed dosing, and no need for laboratory monitoring. Poor data is available on their use in paroxysmal nocturnal hemoglobinuria patients in the treatment of the acute-phase of venous thromboembolism (VTE), while no data is available on their use in secondary prophylaxis of VTE. We describe our monocentric experience on the management of thrombotic events in PNH patients and on the use of DOACs as secondary prophylaxis medication. Our retrospective monocentric analysis shows that DOACs could be an effective and safe choice in this setting.</p>","PeriodicalId":17546,"journal":{"name":"Journal of Thrombosis and Thrombolysis","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Indications of platelet indices in coronary artery disease (CAD): more insights into their diagnostic and prognostic importance.","authors":"Ehteramolsadat Hosseini, Seyed Mohammad Sadegh Pezeshki, Alireza Ghasemzadeh, Mehran Ghasemzadeh","doi":"10.1007/s11239-025-03121-2","DOIUrl":"https://doi.org/10.1007/s11239-025-03121-2","url":null,"abstract":"<p><p>As a readily available analysis, the complete blood count (CBC) has interpretative value and provides useful information about diseases, their differential diagnosis, and prognosis. Considering the crucial role of platelets in the pathogenesis of cardiovascular diseases (CVDs), examining their morphological changes can also be of particular interest. Therefore, this review aims to highlight the importance of interpreting platelet indices in coronary artery disease (CAD) and to provide appropriate explanations of the mechanisms behind changes in these parameters. To this end, the study presented here first introduces platelet indices obtained from automated blood cell counters, including mean platelet volume (MPV), platelet distribution width (PDW), platelet large cell ratio (P-LCR), and immature platelet fraction (IPF), while highlighting their interpretative significance in different disease states. This review then continues by discussing and interpreting the parameters mentioned in CAD using previously published data. Since the pathogenesis of CAD is related to various conditions, including inflammatory status, biomechanical forces (caused by non-physiological shear stress), and extracorporeal interventions (particularly during on pump Coronary-artery bypass grafting), despite controversies, changes in platelet indices caused by each of these factors have been proposed as useful markers for monitoring the disease status and its prognosis. Taken together, this review first presents scientific hypotheses to justify the diagnostic value of conventional platelet parameters in CAD patients, while highlighting their prognostic importance under different conditions of disease. The present study also extends its discussion to some neglected analytical parameters, including platelet histogram and its interpretations to further validate the other well-known platelet parameters.</p>","PeriodicalId":17546,"journal":{"name":"Journal of Thrombosis and Thrombolysis","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advancements in research on the thrombo-inflammation mechanisms mediated by factor XII in ischemic stroke.","authors":"Han Liu, Kailin Yang, Shanshan Wang, Jinwen Ge","doi":"10.1007/s11239-025-03101-6","DOIUrl":"10.1007/s11239-025-03101-6","url":null,"abstract":"<p><p>Ischemic stroke (IS) is a major cause of mortality and disability, with thrombo-inflammation constituting a core pathophysiological mechanism. This process is closely linked to coagulation cascade activation, endothelial injury, immune cell infiltration, and neuronal damage. Coagulation factor XII (FXII), a key mediator of the contact activation pathway, has emerged as a promising therapeutic target due to its dual role in pathological thrombosis and immune regulation, without compromising physiological hemostasis. However, the clinical translation of FXII-targeted therapies is hindered by paradoxical observations. Recent studies highlight that FXII's functional complexity stems from its structural and spatial heterogeneity: full-length FXII derived from the liver and short FXII mRNA isoforms expressed in neurons mediate distinct biological effects. While FXII contributes to neuroinflammation and vascular injury via endothelial-platelet-neutrophil interactions, neuron-derived FXII exhibits neuroprotective effects through HGF-mediated signaling pathways. Additionally, circulating FXIIa promotes vascular remodeling by enhancing endothelial growth factor (VEGF) release. This review summarizes the multifaceted regulatory mechanisms of FXII in IS, focusing on its structure, distribution, preclinical-clinical paradox, and current therapeutic strategies. Special emphasis is placed on its domain-specific functions and the neuroprotective effects of FXII.</p>","PeriodicalId":17546,"journal":{"name":"Journal of Thrombosis and Thrombolysis","volume":" ","pages":"608-622"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144016904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment of isolated distal deep vein thrombosis: an international survey of healthcare professionals.","authors":"Ilia Makedonov, Lior Kapitanski, Joris Giai, Céline Vermorel, Elisabeth Chevrier, Grégoire Le Gal, Susan R Kahn, Lina Khider, Marie-Antoinette Sevestre, Jameel Abdulrehman, Jean-Luc Bosson, Marc Righini, Jean-Philippe Galanaud","doi":"10.1007/s11239-025-03091-5","DOIUrl":"10.1007/s11239-025-03091-5","url":null,"abstract":"<p><p>Isolated distal deep venous thrombosis (iDDVT) is an infra-popliteal DVT without pulmonary embolism (PE). It is a common condition, but its management remains debated. We conducted a survey distributed by email to the members of the French Society of Vascular Medicine, Thrombosis Canada, the Swiss Society of Angiology and INVENT-VTE research networks; Our objectives were to determine how healthcare professionals specialized in thrombosis manage iDDVT and to obtain experts input on the design of a future clinical trial. Participants were asked how they diagnosed and managed iDDVT and what should be the treatment arms of a future clinical trial on iDDVT management. 472 thrombosis specialists answered the questionnaire, mainly from France (n = 337), Canada (n = 61) and Switzerland (n = 28). Overall, 87.9% (n = 405) of respondents stated that their center always performed whole leg ultrasound in case of suspected DVT and that they managed patients with iDDVT usually at least once a week in 50.3% (n = 229) of cases. In 91.0% (n = 415) of cases respondents treated patients with iDDVT with anticoagulation more than 75% of time, with therapeutic doses and for a duration of 3 months in 90.2% (n = 406) and 74.7% (n = 334) of cases respectively. Most respondent managed muscular and deep-calf vein DVT similarly. More than 60% of respondents favored future trials comparing prophylactic versus therapeutic anticoagulation. Our real-world, international, practice survey of healthcare professionals shows that almost all respondents always conduct whole leg ultrasonography in case of suspected DVT and that they treat iDDVT with therapeutic anticoagulation usually for 3 months.</p>","PeriodicalId":17546,"journal":{"name":"Journal of Thrombosis and Thrombolysis","volume":" ","pages":"657-662"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12148997/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143975119","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":"Management of thrombocytopenia and anticoagulant therapy in patients with hematological malignancy on chemotherapy: a binational prospective study (TAT study).","authors":"Elie Jalaber, Corentin Orvain, Vasiliki Papadopoulou, Alexis Genthon, Valentin Daguerre, Sabrina Barrière, Alice Teste, Emmanuelle Tavernier, Elisabeth Daguenet, Emilie Chalayer","doi":"10.1007/s11239-025-03085-3","DOIUrl":"10.1007/s11239-025-03085-3","url":null,"abstract":"<p><p>Anticoagulant use in patients with hematological malignancies treated on intensive chemotherapy represents a management challenge because of concomitant thrombocytopenia. This prospective multi-center cohort included 100 patients with hematological malignancies on anticoagulation. The aims of the study were to assess the incidence of WHO grade ≥ 2 bleeding, describe physician management strategies during thrombocytopenia (platelet count < 50 × 10⁹//L), and examine short-term outcomes and risk factors for bleeding and thrombosis. Median patients age was 60 years and median duration of severe thrombocytopenia was 16 days. The 30-day cumulative incidence of WHO grade ≥ 2 bleeding was 29.3% (95% CI 19.4-39.8), grade 4 bleeding was 7.2% (95% CI 2.8-14.2) and incidence of thrombus recurrence/progression was 6.2% (95% CI 2.2-13.3). No deaths occurred. The majority of patients received full-dose anticoagulation with a high platelet transfusion threshold. Half of the bleeding episodes grade ≥ 2 occurred with platelets counts between 20 and 50 × 10⁹/L. Longer period of full-dose anticoagulation during thrombocytopenia was associated with increased bleeding risk (16 days [IQR: 6-29] for participants who presented ≥ grade 2 bleeding versus 7 days for those who did not [IQR: 2-14], p < 0.001). So was a HAS-BLED score ≥ 3 (HR = 9 [4.1-20], p < 0.001). Multiple myeloma diagnosis was associated with lower bleeding risk versus other hematological malignancies (HR = 0.2 [0.0-0.9], p = 0.05). Our study underscores the complex trade-off between preventing thrombotic events' progression or recurrence and avoidance of bleeding. We highlight specific clinical scenarios and consider different risk factors. Future randomized controlled trials are required for these complex situations to achieve a rationalization of their management.</p>","PeriodicalId":17546,"journal":{"name":"Journal of Thrombosis and Thrombolysis","volume":" ","pages":"646-656"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143649588","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Edoxaban treatment without initial heparin lead-in for acute venous thromboembolism: insight from the COMMAND VTE registry-2.","authors":"Yuta Tsujisaka, Yugo Yamashita, Takeshi Morimoto, Ryuki Chatani, Kazuhisa Kaneda, Yuji Nishimoto, Nobutaka Ikeda, Yohei Kobayashi, Satoshi Ikeda, Kitae Kim, Moriaki Inoko, Toru Takase, Shuhei Tsuji, Maki Oi, Takuma Takada, Kazunori Otsui, Jiro Sakamoto, Yoshito Ogihara, Takeshi Inoue, Shunsuke Usami, Po-Min Chen, Kiyonori Togi, Norimichi Koitabashi, Seiichi Hiramori, Kosuke Doi, Hiroshi Mabuchi, Yoshiaki Tsuyuki, Koichiro Murata, Kensuke Takabayashi, Hisato Nakai, Daisuke Sueta, Wataru Shioyama, Tomohiro Dohke, Ryusuke Nishikawa, Koh Ono, Takeshi Kimura","doi":"10.1007/s11239-025-03105-2","DOIUrl":"10.1007/s11239-025-03105-2","url":null,"abstract":"<p><p>The package insert of edoxaban for acute venous thromboembolism (VTE) recommended administration following initial parenteral anticoagulation including heparin. We explored the effectiveness and safety of edoxaban for acute VTE without initial heparin lead-in treatment. The COMMAND VTE Registry-2 is a multicenter registry enrolling 5197 consecutive acute symptomatic VTE patients in Japan between January 2015 and August 2020. The current study population consisted of 1842 patients with acute VTE treated with edoxaban. The baseline characteristics and clinical outcomes were compared between the 2 groups with or without initial heparin lead-in treatment stratified by pulmonary embolism (PE) (848 patients) and deep vein thrombosis (DVT) only (994 patients). Propensity score (PS) matching analysis was performed to balance potential baseline differences. PE and DVT patients without heparin lead-in treatment accounted for 225 (27%) and 750 (75%), respectively. PS matching provided 195 pairs of PE patients and 224 pairs of DVT patients. There was no significant difference between the no heparin and heparin groups in the cumulative 30-day incidence of all-cause death (PE: 2.6% vs. 4.2%, P = 0.40; DVT: 2.7% vs. 3.2%, P = 0.78) and a composite of all-cause death, recurrent VTE, or major bleeding (PE: 5.8% vs. 8.4%, P = 0.32; DVT: 4.6% vs. 6.4%, P = 0.41). In the current real-world VTE registry, a substantial proportion of patients with acute VTE were treated with edoxaban without initial heparin lead-in treatment. There was no obvious signal suggesting worse short-term clinical outcomes with edoxaban treatment without versus with initial heparin lead-in treatment.</p>","PeriodicalId":17546,"journal":{"name":"Journal of Thrombosis and Thrombolysis","volume":" ","pages":"591-600"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Mendelian randomization and animal study on the causal relationship between gut microbiota and ischemic stroke.","authors":"Zhen Wei, Jinjian Li, Xue Wang, Xu Wang, Dexi Zhao","doi":"10.1007/s11239-025-03120-3","DOIUrl":"https://doi.org/10.1007/s11239-025-03120-3","url":null,"abstract":"<p><p>A growing body of evidence points to a strong link between ischemic stroke and the gut microbiome. Given the wide diversity present in gut microbiota, this research intends to employ advanced and thorough data to investigate the causative relationship between gut microbiota and ischemic stroke. We performed a two-sample study using Mendelian randomization to clarify the causal connection between gut microbiota and ischemic stroke. The GISCOME network encompassed 6,021 individuals with ischemic stroke, primarily of European descent. A total of 473 gut microbial taxa were extracted from the genome-wide association study catalog. The research involved a forward Mendelian randomization approach(gut microbiota as exposure, ischemic stroke as outcome). A variety of analytical techniques were applied, including inverse variance weighting, Weighted Median, MR-Egger, Weighted Mode, and Simple Mode. Following this, a sensitivity analysis was performed to confirm the reliability of our findings. Rats underwent treatment using a middle cerebral artery occlusion model, and after 7 days, stool samples were collected for 16s sequencing to assess changes in gut microbiota and to compare these with the Mendelian randomization results. Our analysis suggests a potential causal association between gut microbiota and ischemic stroke. Through forward causal analysis, relationships of causality between 20 different gut microbial taxa and ischemic stroke were unveiled. Findings from 16s sequencing indicated that there was an overlap of 6 gut microbial taxa with the results of Mendelian randomization. The results of our research indicate a direct link between gut microbiota and ischemic stroke, offering possible direction for upcoming clinical trials.</p>","PeriodicalId":17546,"journal":{"name":"Journal of Thrombosis and Thrombolysis","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144199523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of safety and efficacy of ultrasound-accelerated thrombolysis vs. standard catheter-directed thrombolysis for the management of acute pulmonary embolism - a systematic review and meta-analysis.","authors":"Siddhant Passey, Hritvik Jain, Jagriti Jha, Kelin Zhong, Chia-Ling Kuo, Marissa Iverson, Haris Patail, Saurabh Joshi, Joseph Ingrassia","doi":"10.1007/s11239-025-03100-7","DOIUrl":"10.1007/s11239-025-03100-7","url":null,"abstract":"<p><p>Standard catheter-directed thrombolysis (SCDT) and Ultrasound-assisted thrombolysis (USAT) are used in intermediate and high-risk pulmonary embolism (PE). SCDT uses low-dose thrombolytic agents, minimizing bleeding risk. USAT adds acoustic energy to improve fibrin breakdown and thrombolytic penetration. A systematic literature search spanning PubMed/Medline, Embase, CENTRAL, CINAHL, and ClinicalTrials.gov databases (from inception to 17 June 2024) was conducted to retrieve studies comparing USAT to SCDT for managing acute PE. Risk of bias was assessed using Cochrane tools for randomized and non-randomized trials. Odds ratio (OR) and mean difference (MD) were pooled using random effects models. Statistical analyses were performed in R version 4.2.2. 11 studies with 37,398 patients (8,762: USAT and 28,636: SCDT) were included. The mean reduction in right ventricular to left ventricular diameter ratio was lower for USAT (MD: -0.12; 95% CI: -0.19, -0.06) compared to SCDT. There was no statistically significant difference between USAT and SCDT for odds of in-hospital mortality, intracranial hemorrhage, bleeding requiring transfusion or for means of hospital or ICU length of stay, or reduction in pulmonary artery pressures. Safety or efficacy of USAT is not superior to SCDT in patients with acute PE. Results were limited due to variable infusion protocol across studies and heterogeneity of results among studies. Large-scale randomized controlled trials (RCTs) are needed to corroborate these findings.</p>","PeriodicalId":17546,"journal":{"name":"Journal of Thrombosis and Thrombolysis","volume":" ","pages":"623-635"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143975114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic markers of thrombophilia as predictors of outcome in colorectal cancer.","authors":"Valéria Tavares, Catarina Lopes, Catarina Macedo-Silva, Mónica Farinha, João Costa, Maria Isabel Vilas-Boas, Sofia Pinelas, Joana Assis, Mário Dinis-Ribeiro, Deolinda Pereira, Carina Pereira, Rui Medeiros","doi":"10.1007/s11239-025-03106-1","DOIUrl":"10.1007/s11239-025-03106-1","url":null,"abstract":"<p><p>Colorectal cancer (CRC) is the second leading cause of malignancy-related death worldwide, representing a significant health concern. Understanding the disease pathogenesis and identifying potential prognostic biomarkers is critical for improving patients' clinical outcomes. Haemostatic components implicated in cancer-associated thrombosis (CAT) seem to favour CRC progression. As such, genetic markers of thrombophilia might be potential prognostic biomarkers among patients with this malignant disease. To offer perspectives, a retrospective cohort study with 204 CRC patients was conducted to investigate the impact of seven germline haemostatic gene determinants on patient prognosis. A sex-stratified analysis was performed as the variants seem to have a distinct influence depending on the patient's sex. Genomic DNA was extracted from FFPE samples enriched in tumour cells. While the polymorphisms CNTN6 rs6764623 (CC/CA vs. AA; adjusted hazard ratio (aHR) = 0.44; 95% confidence interval (CI), 0.20-0.96; P = 0.040), PTGS2 rs20417 (GG vs. CC/CG; aHR = 2.88; 95%CI, 1.10-7.51; P = 0.031) and RGS7 rs2502448 (TT vs. CT/CC; aHR = 2.35; 95%CI, 1.20-4.61; P = 0.013) were associated with the five-year risk of cancer recurrence, ITGB3 rs5918 was a predictor of the risk of death due to all causes, particularly among male patients (TT vs. CT/CC; aHR = 2.05; 95% confidence interval (CI), 1.13-3.72; P = 0.019). While a sex-specific impact of the SNPs was observed, further investigation in larger cohorts, particularly with an increased representation of female patients, is required to confirm these associations. Collectively, these markers could help improve the prognosis assessment of CRC patients towards a more personalised intervention.</p>","PeriodicalId":17546,"journal":{"name":"Journal of Thrombosis and Thrombolysis","volume":" ","pages":"663-678"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12149255/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144159582","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}