International Journal of Colorectal Disease最新文献

{"title":"Short-term surgical outcomes of rectal adenocarcinoma surgical treatment in Latin America: a multicenter, retrospective assessment in 49 centers from 12 countries.","authors":"Marcelo Viola Malet","doi":"10.1007/s00384-024-04763-z","DOIUrl":"10.1007/s00384-024-04763-z","url":null,"abstract":"<p><strong>Introduction: </strong>Rectal cancer is a prevalent disease that requires multidisciplinary management. Results of treatment of patients suffering from this malignancy in Latin America have been scarcely reported before.</p><p><strong>Methods: </strong>A retrospective, multicenter study was conducted to report preoperative and operative characteristics of patients intervened for rectal cancer in centers from Latin America during 2015-2022, and the short-term results of treatment were analyzed. The study was open to any center receiving rectal cancer patients, irrespective of volume. The main study outcome was 30-day postoperative complications including any deviation from the normal postoperative course (Clavien Dindo I to V).</p><p><strong>Results: </strong>A total of 2044 patients from 49 centers in 12 Latin American countries were included, with a mean age of 63 years. Twenty-five percent of patients were operated in low-volume centers. Twenty-nine percent of patients had a tumor located in the low rectum, and only 53% of patients had preoperative MRI for local staging. A total of 1052 patients (52%) received neoadjuvant therapy before surgery. Eighty-six percent of patients were operated by a specialized colorectal surgeon, and 31% of patients were intervened using a conventional approach. A total of 29.9% of patients presented a postoperative complication. The anastomotic leak rate was 8.9%. Fifty-eight percent of pathology reports had less than 12 lymph nodes harvested, and 22.9% of reports did not include mesorectal quality. In the multivariate analysis, neoadjuvant therapy (OR: 1.44, p-value: 0.023), urgent procedures (OR: 3.73, p-value: 0.049), intraoperative complications (OR: 2.21, p-value: 0.046), advanced tumors (OR: 1.39, p-value: 0.036), and prolonged surgery (OR: 1.74, p-value: 0.004) were found to be independently related to suffering postoperative complications.</p><p><strong>Conclusions: </strong>This study includes information about the approach and results of rectal cancer management in Latin America at a large scale. In the future, this information can be used as a bridge to identify areas of improvement among rectal cancer patients' treatment in the region.</p>","PeriodicalId":13789,"journal":{"name":"International Journal of Colorectal Disease","volume":"39 1","pages":"210"},"PeriodicalIF":2.5,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11663813/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142877009","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":"Significant variation in the assessment and management of screen-detected colorectal polyp cancers.","authors":"Sally Hallam, Alexia Farrugia, David N Naumann, Nigel Trudgill, Shantanu Rout, Sharad Karandikar","doi":"10.1007/s00384-024-04780-y","DOIUrl":"10.1007/s00384-024-04780-y","url":null,"abstract":"<p><strong>Purpose: </strong>Endoscopic resection is appropriate for selected colorectal polyp cancers, but significant variation exists in treatment. This study aims to investigate variation in management of screen-detected polyp cancers (T1), factors predicting primary endoscopic polypectomy and threshold for subsequent surgical resection.</p><p><strong>Method: </strong>Patients with polyp cancers (T1) diagnosed by the bowel cancer screening programme (BCSP) were investigated at two screening centres (5 individual sites and 4 MDTs, 2012-2022). Patient demographics, pathological characteristics, management and outcomes were recorded. Variation in management was compared between sites. Risk factors for primary endoscopic polypectomy and the need for subsequent surgical resection were analysed using multivariable binary logistic regression models.</p><p><strong>Results: </strong>Of 220 polyp cancers, 178 (81%) underwent primary endoscopic resection. Secondary surgical excision was required in 54 (30%). Study sites were not significantly different in their primary management for colonic or rectal polyps. Only the size of colonic polyps was associated with primary surgery rather than endoscopic polypectomy (OR 1.05 (95% CI 1.00-1.11); p = 0.038). There was a difference between study sites in the odds ratio for secondary surgery after primary polypectomy for colonic polyps (OR 3.97 (95% CI 1.20-16.0); p = 0.033) but not rectal. Other factors associated with the requirement for secondary surgery were as follows: sessile morphology for colonic polyps (OR 2.92 (95% CI 1.25-6.97); p = 0.013) and en-bloc resection for rectal polyps (OR 0.14 (0.02-0.85); p = 0.043).</p><p><strong>Conclusion: </strong>There was significant variation in the assessment and treatment of colonic polyp cancers. Standardising pathology reporting and treatment algorithms may lead to better consistency of care and a reduction in secondary surgery.</p>","PeriodicalId":13789,"journal":{"name":"International Journal of Colorectal Disease","volume":"39 1","pages":"209"},"PeriodicalIF":2.5,"publicationDate":"2024-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11663814/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142876946","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 and validation of a preoperative systemic inflammation-based nomogram for predicting surgical site infection in patients with colorectal cancer.","authors":"Fuwei Mao, Mingming Song, Yinghao Cao, Liming Shen, Kailin Cai","doi":"10.1007/s00384-024-04772-y","DOIUrl":"10.1007/s00384-024-04772-y","url":null,"abstract":"<p><strong>Background: </strong>Surgical site infection (SSI) represents a significant postoperative complication in colorectal cancer (CRC). Identifying associated factors is therefore critical. We evaluated the predictive value of clinicopathological features and inflammation-based prognostic scores (IBPSs) for SSI occurrence in CRC patients.</p><p><strong>Methods: </strong>We retrospectively analyzed data from 1445 CRC patients who underwent resection surgery at Wuhan Union Hospital between January 2015 and December 2018. We applied two algorithms, least absolute shrinkage and selector operation (LASSO) and support vector machine-recursive feature elimination (SVM-RFE), to identify key predictors. Participants were randomly divided into training (n = 1043) and validation (n = 402) cohorts. A nomogram was constructed to estimate SSI risk, and its performance was assessed by calibration, discrimination, and clinical utility.</p><p><strong>Results: </strong>Combining the 30 clinicopathological features identified by LASSO and SVM-RFE, we pinpointed seven variables as optimal predictors for a pathology-based nomogram: obstruction, dNLR, ALB, HGB, ALT, CA199, and CA125. The model demonstrated strong calibration and discrimination, with an area under the curve (AUC) of 0.838 (95% CI 0.799-0.876) in the training cohort and 0.793 (95% CI 0.732-0.865) in the validation cohort. Decision curve analysis (DCA) showed that our models provided greater predictive benefit than individual clinical markers.</p><p><strong>Conclusion: </strong>The model based on simplified clinicopathological features in combination with IBPSs is useful in predicting SSI for CRC patients.</p>","PeriodicalId":13789,"journal":{"name":"International Journal of Colorectal Disease","volume":"39 1","pages":"208"},"PeriodicalIF":2.5,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11662059/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142871961","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 novel nomogram for the prediction of surgical site infection risk after loop ileostomy closure.","authors":"Yunhuang Hu, Yirong Chen, Shiqing Su, Huida Zheng, Jianhua Xu","doi":"10.1007/s00384-024-04786-6","DOIUrl":"10.1007/s00384-024-04786-6","url":null,"abstract":"<p><strong>Background: </strong>A postoperative surgical site infection (SSI) is a prevalent complication after loop ileostomy closure. There are few studies on the risk factors and the development of predictive models for postoperative SSIs. The aim of this study was to develop and validate a nomogram model capable of accurately predicting the occurrence of postoperative SSIs.</p><p><strong>Methods: </strong>This retrospective analysis examined the clinical data of 369 patients who underwent loop ileostomy closure at a local hospital from January 2015 to March 2022. A logistic regression model was used to identify the potential risk factors for a postoperative SSI after loop ileostomy closure. A nomogram was established using independent risk factors, and the prediction performance of the model was evaluated using the area under the receiver operating characteristic (ROC) curve (AUC).</p><p><strong>Results: </strong>Forty-eight (13.0%) developed postoperative SSIs after loop ileostomy closure. Multivariate logistic regression analysis revealed that a body mass index (BMI) > 25 kg/m², diabetes, linear skin closure (LSC), and a prolonged operative time were independent risk factors for SSIs, whereas the presence of a subcutaneous drainage tube was identified as an independent protective factor. The nomogram models constructed using these variables achieved AUCs of 0.833 and 0.823 on the training set and validation set, respectively. The calibration curves demonstrated excellent consistency.</p><p><strong>Conclusion: </strong>The nomogram developed using clinical data from patients who underwent loop ileostomy closure demonstrates a robust predictive capability, offering valuable guidance to clinicians in assessing the risk of postoperative SSIs.</p>","PeriodicalId":13789,"journal":{"name":"International Journal of Colorectal Disease","volume":"39 1","pages":"207"},"PeriodicalIF":2.5,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11662048/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142871995","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":"AQP3 mediates autophagy through SIRT1/p62 signal to alleviate intestinal epithelial cell damage caused by sepsis.","authors":"Canmin Wang, Yingfang Hu, Yunfeng Song, Xinyi Hu","doi":"10.1007/s00384-024-04788-4","DOIUrl":"10.1007/s00384-024-04788-4","url":null,"abstract":"<p><strong>Background: </strong>Autophagy damage will aggravate intestinal damage caused by sepsis. Studies have shown that the activation of AQP3 and SIRT1 signals can reduce the inflammatory response of sepsis. However, their role and mechanism in intestinal injury in the late stage of sepsis are not deeply studied.</p><p><strong>Objective: </strong>To explore whether AQP3 can mediate autophagy by regulating the SIRT1/P62 signaling pathway to alleviate intestinal epithelial cell damage caused by sepsis.</p><p><strong>Methods: </strong>Caco-2 cells were transfected with plasmid to overexpress AQP3. Western blot and RT-qPCR were used to detect the expression of cell protein, ELISA was used to detect the level of cytokines, DCFH-DA probe was added to quantify the ROS level, and the integrity of cell barrier was evaluated by measuring the transepithelial resistance (TEER). The autophagy levels were observed by MDC staining, and the levels of ZO-1 and Occludin were detected by immunofluorescence.</p><p><strong>Results: </strong>AQP3 was down-regulated in the Caco-2 cell injury model induced by LPS in vitro. Overexpression of AQP3 inhibited the production of inflammatory factors and ROS, thus relieving LPS-induced intestinal epithelial cell damage; restored the TEER of cells; up-regulated the expression of claudin-1, TJP-1, Occludin, and ZO-1, thus alleviating the cell barrier injury; increased autophagy bodies in cells; and increased the expression of Beclin1 and the ratio of LC3-II/LC3-I while inhibiting the expression of p62, thus restoring the autophagy level of cells. However, autophagy inhibitor 3-MA and SIRT1 inhibitor EX 527 offset these effects of AQP3 overexpression.</p><p><strong>Conclusion: </strong>AQP3 regulated the autophagy level of Caco-2 cells induced by LPS through SIRT1/p62 signal and relieved intestinal epithelial cell damage caused by sepsis.</p>","PeriodicalId":13789,"journal":{"name":"International Journal of Colorectal Disease","volume":"39 1","pages":"205"},"PeriodicalIF":2.5,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11659350/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142863743","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":"Prognostic value of neutrophil-to-lymphocyte ratios pre- and post-surgery in stage III CRC: a study of 2,742 patients.","authors":"Yun Lee, Kung-Chuan Cheng, Yueh-Ming Lin, Chien-Chang Lu, Ko-Chao Lee","doi":"10.1007/s00384-024-04789-3","DOIUrl":"10.1007/s00384-024-04789-3","url":null,"abstract":"<p><strong>Purpose: </strong>Stage III colorectal cancer (CRC) is typically treated with surgery; however, it has a high recurrence rate and inconsistent benefits from postoperative chemotherapy. Inflammatory markers like the neutrophil-to-lymphocyte ratio (NLR) have shown prognostic value in various cancers. However, the prognostic significance of NLR measured before and after CRC surgery is not clear. This study aims to clarify the prognostic value of the combination of pre- and post-surgery NLR in stage III CRC patients.</p><p><strong>Methods: </strong>Patients with stage III CRC treated between 2001 and 2022 were retrospectively analyzed using data from the Chang Gung Medical Research Database. Patients were categorized into 4 groups based on their pre- and post-operative NLR levels. Kaplan-Meier survival analysis and Cox proportional hazard models were used to assess the associations between NLR levels and overall survival (OS), disease-free survival (DFS), and cancer-specific survival (CSS).</p><p><strong>Results: </strong>Data from 2,742 patients, median age of 62 years and 54% male, were analyzed. After adjustment, patients in Group IV, with high NLR values both before and after surgery, had greater risks of worse DFS (adjusted hazard ratio [aHR] = 1.30, 95% confidence interval [CI]: 1.13-1.50), OS (aHR = 1.36, 95% CI: 1.14-1.63), and CSS (aHR = 1.27, 95% CI: 1.04-1.55) compared to Group I.</p><p><strong>Conclusions: </strong>High NLR levels before and after surgery is a strong predictor of poor outcomes in stage III CRC patients. The findings suggest that monitoring NLR at both time points can be a valuable prognostic tool, guiding postoperative care and treatment strategies to improve patient outcomes.</p>","PeriodicalId":13789,"journal":{"name":"International Journal of Colorectal Disease","volume":"39 1","pages":"206"},"PeriodicalIF":2.5,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11659361/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142863761","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":"Initial experience and results of robotic lateral pelvic lymph node dissection in locally advanced rectal cancer-a single center experience of 17 consecutive procedures.","authors":"Jens Ravn Eriksen, Steffen Kirstein Brisling, Ismail Gögenur","doi":"10.1007/s00384-024-04782-w","DOIUrl":"10.1007/s00384-024-04782-w","url":null,"abstract":"<p><strong>Purpose: </strong>We have evaluated lateral pelvic lymph node dissection (LPLND) in combination with rectal resection in the treatment of locally advanced rectal cancer in a specialized colorectal surgical department with a focus on safety and feasibility.</p><p><strong>Methods: </strong>The study analyzed surgical-pathologic outcomes in 17 consecutive patients who underwent robotic LPLND and rectal resection between May 2018 and June 2024 at a high-volume colorectal cancer center in Denmark. Patients were selected for the procedure based on lateral lymph node (LLN) diameter ≥ 8 mm before and ≥ 5 mm after neoadjuvant treatment.</p><p><strong>Results: </strong>Out of 17 patients (15 men and 2 females) included in this study, 13 patients (76%) had undergone neoadjuvant therapy. The median age was 63 years (range 35-79) with a median BMI of 25.6 kg/m² (range 19.4-34.5). The total median operation time was 335 min (range 182-526 min) with no conversions necessary. Additional resection of structures beyond the total mesorectal excision plane was performed in eight patients (47%). The median hospital stay was 4 days (range 2-14) and one patient was readmitted within 30 days. Seven patients experienced postoperative complications within 30 days, with only one CD complication ≥ grade 3. The median number of resected LLNs was 4 (range 0-11) per patient and malignant LLNs were verified in three patients (17.6%).</p><p><strong>Conclusion: </strong>This study shows that simultaneous robot-assisted LPLND and rectal resection can be performed safely and effectively in selected patients with locally advanced rectal cancer, with a short hospital stay and few readmissions and postoperative complications.</p>","PeriodicalId":13789,"journal":{"name":"International Journal of Colorectal Disease","volume":"39 1","pages":"204"},"PeriodicalIF":2.5,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11652649/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142835625","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":"Circulating tumor DNA as a predictive biomarker for treatment response and survival in metastatic colorectal cancer.","authors":"Mengying Kou, Ying Deng","doi":"10.1007/s00384-024-04785-7","DOIUrl":"10.1007/s00384-024-04785-7","url":null,"abstract":"<p><strong>Purpose: </strong>To explore the potential of circulating tumor DNA (ctDNA) as a prognostic biomarker to predict treatment response and survival outcomes in patients with metastatic colorectal cancer (mCRC).</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 134 patients with mCRC who were treated between January 2020 and December 2021. The patients were classified into ctDNA-negative and ctDNA-positive groups based on plasma ctDNA detection. Demographic, clinical, and laboratory parameters, treatment response, survival outcomes, and adverse events were recorded and analyzed.</p><p><strong>Results: </strong>No significant differences were observed in baseline characteristics between the two groups. Compared to the ctDNA-positive patients, ctDNA-negative patients exhibited superior outcomes, including a higher objective response rate (65.22% vs. 46.15%), disease control rate (81.16% vs. 63.08%), progression-free survival (8.24 ± 1.02 vs. 7.86 ± 0.91 months), overall survival (24.58 ± 3.58 vs. 23.27 ± 3.46 months), and 1-year survival rate (73.91% vs. 55.38%). The ctDNA-positive group had a significantly higher incidence of adverse events. Correlation analyses revealed significant associations between ctDNA status, tumor markers, treatment response, and survival outcomes.</p><p><strong>Conclusions: </strong>ctDNA is a promising noninvasive biomarker for predicting treatment response, survival, and adverse events in mCRC, potentially guiding personalized therapeutic strategies.</p>","PeriodicalId":13789,"journal":{"name":"International Journal of Colorectal Disease","volume":"39 1","pages":"203"},"PeriodicalIF":2.5,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11649706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142835624","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":"Evaluating the necessity of colonoscopy in patients under 40 with rectal bleeding: insights from a large-scale retrospective analysis.","authors":"Ibrahim M Obeidat, Yousef Yahia, Prem Chandra, Amani Altaiam, Ethar Mohamed, Husam Saffo, Raya Abualsuod, Ala'a Al-Deen Mousa, Duha Shalatouni, Khaled Alsa'ed, Mahmoud Y Arabyat","doi":"10.1007/s00384-024-04784-8","DOIUrl":"10.1007/s00384-024-04784-8","url":null,"abstract":"<p><strong>Purpose: </strong>Bleeding per rectum (BPR) is a common clinical presentation, and colonoscopy is the gold standard for evaluating patients aged ≥ 45 years. However, its role in younger patients remains unclear. This study evaluated the appropriateness of colonoscopy in patients < 40 years of age who presented with BPR.</p><p><strong>Methods: </strong>This retrospective observational study was conducted over 10 years, including 3422 patients aged 18-40 years who underwent colonoscopy for BPR. The cohort was divided into two age groups: younger (aged 18-30 years) and older (31-40 years). The patients' baseline characteristics, colonoscopy findings, and histopathological results were analyzed.</p><p><strong>Results: </strong>Hemorrhoids were the most common finding (48%), with a higher prevalence in younger age groups (50.7%). Polyps were detected in 12.5% of patients, with 1.75% having advanced adenoma polyps (AAP) and 1.3% diagnosed with colorectal cancer (CRC). A family history of CRC/AAP was significantly associated with increased CRC risk (adjusted OR 6.35, 95% CI 2.24-18.02, p = 0.001) in explorative logistic regression analysis.</p><p><strong>Conclusion: </strong>AAP and CRC were detected in a small but significant proportion of patients, particularly among those aged 18-30 years. The detection of significant lesions in this age group highlights the need for targeted colonoscopy based on specific risk factors such as family history and clinical presentation. Future research should prioritize the creation of targeted assessment models to improve clinical decision making in this context.</p>","PeriodicalId":13789,"journal":{"name":"International Journal of Colorectal Disease","volume":"39 1","pages":"202"},"PeriodicalIF":2.5,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11649774/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142828472","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":"Genomic mosaicism in colorectal cancer and polyposis syndromes: a systematic review and meta-analysis.","authors":"Francisco Cezar Aquino de Moraes, Nayara Rozalem Moretti, Vitor Kendi Tsuchiya Sano, Cristiane Wen Tsing Ngan, Rommel Mario Rodríguez Burbano","doi":"10.1007/s00384-024-04776-8","DOIUrl":"10.1007/s00384-024-04776-8","url":null,"abstract":"<p><strong>Background: </strong>Colorectal cancer (CRC) and polypoid syndromes are significant public health concerns, with somatic mosaicism playing a crucial role in their genetic diversity. This study aimed to investigate the prevalence and impact of somatic mosaicism in these conditions.</p><p><strong>Methods: </strong>A search was conducted using PubMed, Scopus, and Web of Sciences to identify studies evaluating mosaicism in patients with CRC or polyposis syndromes. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to determine prevalence rates. Statistical analyses were performed using R software 4.3.</p><p><strong>Results: </strong>A total of 27 studies, encompassing 2272 patients, were included in the analysis. Of these, 108 patients exhibited somatic mosaicism, resulting in an overall prevalence of 8.79% (95% CI 5.1 to 14.70%, I² = 85; p < 0.01). Subgroup analyses revealed a significantly higher prevalence of mosaicism in patients with APC mutations (OR 13.43%, 95% CI 6.36 to 26.18%, I² = 87; p < 0.01). Additionally, mosaicism in MLH1 and MSH2 genes was observed at rates of 2.75% (95% CI 1.20 to 6.18%) and 9.69% (95% CI 2.98 to 27.24%), respectively.</p><p><strong>Conclusions: </strong>Our findings support the growing recognition of mosaicism as a critical factor in CRC susceptibility and underscore the importance of incorporating mosaicism screening into routine genetic testing for at-risk patients.</p>","PeriodicalId":13789,"journal":{"name":"International Journal of Colorectal Disease","volume":"39 1","pages":"201"},"PeriodicalIF":2.5,"publicationDate":"2024-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11646957/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142828473","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}