Pleomorphic leiomyosarcoma of the maxilla with metastasis to the colon: A case report.

BACKGROUND: Pleomorphic leiomyosarcomas make up around 8.6% of all leiomyosarcomas. They behave aggressively and often have poor prognoses. They can affect the gastrointestinal tract and retroperitoneum. To date, pleomorphic leiomyosarcoma involving the mesocolon have been reported in nine patients. CASE SUMMARY: The patient was a 44-year-old man with a history of pleomorphic leiomyosarcoma of the left maxilla with metastasis to the lung and liver. His most recent positron emission tomography-computed tomography (PET-CT) scan showed uptake in the ascending and transverse colons. A colonoscopy revealed a 5.0 cm × 3.5 cm × 3.0 cm pedunculated polyp in the ascending colon. The polyp was removed using hot snare polypectomy technique and retrieved with Rothnet. Histopathologic examination of the polyp showed a metastatic pleomorphic leiomyosarcoma. CONCLUSION: Uptake(s) on PET-CT in a patient with pleomorphic leiomyosarcoma should raise suspicion for metastasis.

Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes.

Serrated polyposis syndrome (SPS) presents with multiple sessile serrated lesions (SSL) in the large intestine and confers increased colorectal cancer (CRC) risk. However, the etiology of SPS is not known. SSL-derived organoids have not been previously studied but may help provide insights into SPS pathogenesis and identify novel biomarkers and chemopreventive strategies. This study examined effects of EGFR and COX pathway inhibition in organoid cultures derived from uninvolved colon and polyps of SPS patients. We also compared with organoids representing the hereditary gastrointestinal syndromes, Familial Adenomatous Polyposis (FAP) and Lynch syndrome (LS). Eighteen total organoid colon cultures were generated from uninvolved colon and polyps in SPS, FAP, LS, and non-syndromic screening colonoscopy patients. BRAF and KRAS mutation status was determined for each culture. Erlotinib (EGFR inhibitor) and sulindac (COX inhibitor) were applied individually and in combination. A 44-target gene custom mRNA panel (including WNT and COX pathway genes) and a 798-gene microRNA gene panel were used to quantitate organoid RNA expression by NanoString analysis. Erlotinib treatment significantly decreased levels of mRNAs associated with WNT and MAPK kinase signaling in organoids from uninvolved colon from all four patient categories and from all SSL and adenomatous polyps. Sulindac did not change the mRNA profile in any culture. Our findings suggest that EGFR inhibitors may contribute to the chemopreventive treatment of SSLs. These findings may also facilitate clinical trial design using these agents in SPS patients. Differentially expressed genes identified in our study (MYC, FOSL1, EGR1, IL33, LGR5 and FOXQ1) may be used to identify other new molecular targets for chemoprevention of SSLs.

RNA-Seq-Based Molecular Classification Analyses in Colorectal Cancer and Synchronous Adenoma.

Colorectal cancers (CRC) are classified into consensus molecular subtypes (CMS) based on gene expression profiles. The revised classification system iCMS was proposed by considering intrinsic epithelial status, microsatellite instability (MSI), and fibrosis. This study aimed to provide molecular evidence for the adenoma-carcinoma sequence concept by examining CRC and synchronous adenomas using iCMS. Epithelial CMS cell proportion was estimated using CiberSortx, an in silico cell fractionation method that included CMS cell types among the reference cell types. A random forest (RF) model estimated the posterior probabilities of CMS classes, which were compared with the CiberSortx results. Gene expression profiles of the published iCMS signature panel were retrieved from our dataset and subjected to heatmap clustering for classification. Bulk RNA sequencing data were collected from 29 adenocarcinomas and 11 adenoma samples. CiberSortx showed all CRC contained either CMS2 or CMS3 as the major epithelial cancer cell type. The RF model classified approximately half of the CRC as CMS4, whereas CMS4 was hardly detected by CiberSortx. Because they were enriched with myofibroblasts as per the CiberSortx classification, we tentatively designated them as iCMS2-F/iCMS3-F. iCMS coupled with the application of an in silico cell fractionation method can provide the molecular dissection of CRC and adenoma.

Epstein-Barr Virus-Positive Inflammatory Follicular Dendritic Cell Sarcoma Presenting as a Colonic Polyp: Report of a Case with a Literature Review.

Background: Follicular dendritic cell (FDC) sarcoma is an uncommon mesenchymal origin neoplasm derived from the abnormal proliferation and differentiation of FDCs. Epstein‒Barr virus-positive inflammatory follicular dendritic cell sarcoma (EBV+ iFDCS), which used to be known as the inflammatory pseudotumour (IPT)-like variant, occurs exclusively in the liver and spleen and has rarely been reported in the gastrointestinal tract. Case study: Here, we report a case of a 52-year-old woman with a special family history undergoing a routine physical examination. The colonoscope revealed an approximately 18 mm transverse colonic polyp, and the endoscopic polypectomy was performed. Microscopically, the excised polypoid mass was composed predominantly of inflammatory cells scattered with atypical ovoid to spindle tumor cells. Interestingly, there was a remarkable infiltration of IgG4+ cells. Immunohistochemistry showed that the tumor cells were positive for CD21, CD23 and CD35. EBV-encoded mRNA (EBER) in situ hybridization also gave positive signals. These histopathology features supported the diagnosis of EBV+ iFDCS. The patient was free of disease over 1-year follow-up. Conclusion: Identification of the potential pathogenesis sites of EBV+ iFDCS in extra-hepatosplenic regions is necessary for correct and timely diagnosis, and we consider it very meaningful to share our experience of diagnosing this tumor type. Furthermore, we summarize the clinicopathological features of EBV+ iFDCS presenting as a colon polyp after a thorough review of the literature.

Distinct Signatures of Tumor-Associated Microbiota and Metabolome in Low-Grade vs. High-Grade Dysplastic Colon Polyps: Inference of Their Role in Tumor Initiation and Progression.

According to the driver-passenger model for colorectal cancer (CRC), the tumor-associated microbiota is a dynamic ecosystem of bacterial species where bacteria with carcinogenic features linked to CRC initiation are defined as "drivers", while opportunistic bacteria colonizing more advanced tumor stages are known as "passengers". We reasoned that also gut microbiota-associated metabolites may be differentially enriched according to tumor stage, and be potential determinants of CRC development. Thus, we characterized the mucosa- and lumen-associated microbiota (MAM and LAM, respectively) and mucosa-associated metabolites in low- vs. high-grade dysplastic colon polyps from 78 patients. We show that MAM, obtained with a new biopsy-preserving approach, and LAM differ in composition and α/ß-diversity. By stratifying patients for polyp histology, we found that bacteria proposed as passengers by previous studies colonized high-grade dysplastic adenomas, whereas driver taxa were enriched in low-grade polyps. Furthermore, we report altered "mucosa-associated metabolite" levels in low- vs. high-grade groups. Integrated microbiota-metabolome analysis suggests the involvement of the gut microbiota in the production and consumption of these metabolites. Altogether, our findings support the involvement of bacterial species and associated metabolites in CRC mucosal homeostasis in a tumor-stage-specific manner. These distinct signatures may be used to distinguish low-grade from high-grade dysplastic polyps.

Incidentally Discovered Mucosal Prolapse of the Colon During Colorectal Cancer Screening: A Case Report.

Colonic mucosal prolapse syndrome is a rare type of non-neoplastic non-inflammatory colorectal polyps that can mimic neoplastic lesions. We present a case of a 65-year-old man with mucosal prolapse syndrome, incidentally, discovered during colorectal cancer screening. The patient was asymptomatic, and his physical exam and laboratory test results were unremarkable. During a colonoscopy, the physician removed three small tubular adenomas and two pedunculated polyps suspicious of neoplasms. Retroflexion revealed small internal hemorrhoids. The histology of the larger polyps revealed mucosal prolapse features, while the smaller polyps displayed features consistent with tubular adenomas. Management involves the removal of associated polyps during colonoscopy, followed by surveillance colonoscopy to detect any recurrent polyps or early signs of colorectal cancer. Accurate diagnosis is crucial to avoid unnecessary interventions and ensure appropriate management.

Safety of Cold Snare Polypectomy during Continuous Use of Antithrombotic Drugs for Delayed Post-Polypectomy Bleeding: A Pilot Study.

BACKGROUND: Cold snare polypectomy is a high-risk endoscopic procedure with a low delayed post-polypectomy bleeding rate. However, it is unclear whether delayed post-polypectomy bleeding rates increase during continuous antithrombotic treatment. This study aimed to determine the safety of cold snare polypectomy during continuous antithrombotic treatment. METHODS: This single-center, retrospective cohort study enrolled patients who underwent cold snare polypectomy during antithrombotic treatment between January 2015 and December 2021. Patients were divided into continuation and withdrawal groups based on whether they continued with antithrombotic drugs or not. Propensity score matching was performed using age, sex, Charlson comorbidity index, hospitalization, scheduled treatment, type of antithrombotic drugs used, multiple medications used, indication for antithrombotic drugs, and gastrointestinal endoscopist qualifications. The delayed polypectomy bleeding rates were compared between the groups. Delayed polypectomy bleeding was defined as the presence of blood in stools and requiring endoscopic treatment or a decrease in hemoglobin level by 2 g/dL or more. RESULTS: The continuation and withdrawal groups included 134 and 294 patients, respectively. Delayed polypectomy bleeding was observed in 2 patients (1.5%) and 1 patient (0.3%) in the continuation and withdrawal groups, respectively (p = 0.23), before propensity score matching, with no significant difference. After propensity score matching, delayed polypectomy bleeding was observed in 1 patient (0.9%) in the continuation group but not in the withdrawal group, with no significant difference. CONCLUSION: Cold snare polypectomy during continuous antithrombotic treatment did not significantly increase delayed post-polypectomy bleeding rates. Therefore, this procedure may be safe during continuous antithrombotic treatment.

Tubulovillous Adenoma Identified on Transvaginal Ultrasound: A Case Report.

Tubulovillous adenomas are colonic polyps with a relatively high potential for malignancy that are typically identified on colonoscopy. We present a case of colonic tubulovillous adenoma first discovered on gynecologic transvaginal ultrasound. The patient was a 42-year-old gravida 2 para 2 female with symptoms suggestive of endometriosis, including left lower quadrant pain, heavy menstrual bleeding, urinary urgency, and dyschezia. The patient underwent transvaginal ultrasound following the International Deep Endometriosis Analysis protocol that identified an intermediate echogenicity, vascular solid mass of the rectosigmoid lumen. Consequent colonoscopy and polypectomy revealed tubulovillous tissue negative for high-grade dysplasia or malignancy. This case report highlights the importance of gynecologists developing an acute awareness of colonic pathologies that might be encountered while performing endometriosis ultrasounds with direct assessment of the rectum.

Intraprocedure Artificial Intelligence Alert System for Colonoscopy Examination.

Colonoscopy is a valuable tool for preventing and reducing the incidence and mortality of colorectal cancer. Although several computer-aided colorectal polyp detection and diagnosis systems have been proposed for clinical application, many remain susceptible to interference problems, including low image clarity, unevenness, and low accuracy for the analysis of dynamic images; these drawbacks affect the robustness and practicality of these systems. This study proposed an intraprocedure alert system for colonoscopy examination developed on the basis of deep learning. The proposed system features blurred image detection, foreign body detection, and polyp detection modules facilitated by convolutional neural networks. The training and validation datasets included high-quality images and low-quality images, including blurred images and those containing folds, fecal matter, and opaque water. For the detection of blurred images and images containing folds, fecal matter, and opaque water, the accuracy rate was 96.2%. Furthermore, the study results indicated a per-polyp detection accuracy of 100% when the system was applied to video images. The recall rates for high-quality image frames and polyp image frames were 95.7% and 92%, respectively. The overall alert accuracy rate and the false-positive rate of low quality for video images obtained through per-frame analysis were 95.3% and 0.18%, respectively. The proposed system can be used to alert colonoscopists to the need to slow their procedural speed or to perform flush or lumen inflation in cases where the colonoscope is being moved too rapidly, where fecal residue is present in the intestinal tract, or where the colon has been inadequately distended.

Benefits and challenges in implementation of artificial intelligence in colonoscopy: World Endoscopy Organization position statement.

The number of artificial intelligence (AI) tools for colonoscopy on the market is increasing with supporting clinical evidence. Nevertheless, their implementation is not going smoothly for a variety of reasons, including lack of data on clinical benefits and cost-effectiveness, lack of trustworthy guidelines, uncertain indications, and cost for implementation. To address this issue and better guide practitioners, the World Endoscopy Organization (WEO) has provided its perspective about the status of AI in colonoscopy as the position statement. WEO Position Statement: Statement 1.1: Computer-aided detection (CADe) for colorectal polyps is likely to improve colonoscopy effectiveness by reducing adenoma miss rates and thus increase adenoma detection; Statement 1.2: In the short term, use of CADe is likely to increase health-care costs by detecting more adenomas; Statement 1.3: In the long term, the increased cost by CADe could be balanced by savings in costs related to cancer treatment (surgery, chemotherapy, palliative care) due to CADe-related cancer prevention; Statement 1.4: Health-care delivery systems and authorities should evaluate the cost-effectiveness of CADe to support its use in clinical practice; Statement 2.1: Computer-aided diagnosis (CADx) for diminutive polyps (≤5 mm), when it has sufficient accuracy, is expected to reduce health-care costs by reducing polypectomies, pathological examinations, or both; Statement 2.2: Health-care delivery systems and authorities should evaluate the cost-effectiveness of CADx to support its use in clinical practice; Statement 3: We recommend that a broad range of high-quality cost-effectiveness research should be undertaken to understand whether AI implementation benefits populations and societies in different health-care systems.

Granular Cell Tumor of the Ascending Colon.

Granular cell tumor (GCT) was first described by Abrikossoff in 1926. It is a mostly benign tumor with rare malignant transformation. It is defined as a soft tissue neoplasm with abundant eosinophilic cytoplasm. The mean age of diagnosis for GCT is around 45 years. It is rare for GCT to be found in the gastrointestinal (GI) tract. Within the subset of GI tract, the colon is an extremely rare site for it to be found. Franburg-Smith histopathology criteria are used to differentiate a benign from a malignant GCT. The malignant form is aggressive with high recurrence rates after resection. Histopathology and immunohistochemical stains are used to make a definitive diagnosis. Herein, we present a rare case of an ascending colon polyp that was resected and found to be a benign GCT.

A Novel Computer-Aided Detection/Diagnosis System for Detection and Classification of Polyps in Colonoscopy.

Using a deep learning algorithm in the development of a computer-aided system for colon polyp detection is effective in reducing the miss rate. This study aimed to develop a system for colon polyp detection and classification. We used a data augmentation technique and conditional GAN to generate polyp images for YOLO training to improve the polyp detection ability. After testing the model five times, a model with 300 GANs (GAN 300) achieved the highest average precision (AP) of 54.60% for SSA and 75.41% for TA. These results were better than those of the data augmentation method, which showed AP of 53.56% for SSA and 72.55% for TA. The AP, mAP, and IoU for the 300 GAN model for the HP were 80.97%, 70.07%, and 57.24%, and the data increased in comparison with the data augmentation technique by 76.98%, 67.70%, and 55.26%, respectively. We also used Gaussian blurring to simulate the blurred images during colonoscopy and then applied DeblurGAN-v2 to deblur the images. Further, we trained the dataset using YOLO to classify polyps. After using DeblurGAN-v2, the mAP increased from 25.64% to 30.74%. This method effectively improved the accuracy of polyp detection and classification.

MTHFR Gene C677T Polymorphism (rs1801133) and Susceptibility to Colorectal Polyps in an Azerbaijani Population.

BACKGROUND: Understanding the relationships between the methylenetetrahydrofolate reductase (MTHFR) gene polymorphism, colorectal polyps, and CRC risk can aid in advancing personalized medicine approaches in CRC prevention. The aim of the current study is to identify the association of C677T polymorphism of the MTHFR gene with the risk of colorectal polyps in the Azerbaijani population. METHODS: This study included 125 patients with colon polyps and 155 healthy individuals as a control group. DNA was extracted from venous blood samples obtained from patients and healthy individuals, and the results were analyzed through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and agarose gel electrophoresis. RESULTS: Wild-type, heterozygote, and homozygous mutant were revealed within 69 (55.2%), 49 (39.2%), and 7 (5.6%) patients and within 100 (64.5%), 45 (29%), and 10 (6.5%) healthy controls, respectively. However, no significant statistical associations were observed between CT and TT genotypes, dominant (CC vs. CT + TT) and recessive (CC + CT vs. TT) models, and the mutant T allele and disease risk. There were also no significant differences between patients and controls regarding age, sex, smoking and alcohol use. CONCLUSION: Our research did not reveal any significant association between the MTHFR C677T polymorphism and susceptibility to colorectal polyps in the Azerbaijan population.

Is endoscopic mucosal ablation a valid option for treating colon polyps?

The present letter to editor is related to endoscopic mucosal ablation (EMA). EMA is safe and effective in the treatment of colonic polyps when endoscopic resection is not possible or available, but the indication of EMA should be determined for a further large number of studies. EMA should be used with caution for larger lesions.

Rapid Polyp Classification in Colonoscopy Using Textural and Convolutional Features.

Colorectal cancer is the leading cause of cancer-associated morbidity and mortality worldwide. One of the causes of developing colorectal cancer is untreated colon adenomatous polyps. Clinically, polyps are detected in colonoscopy and the malignancies are determined according to the biopsy. To provide a quick and objective assessment to gastroenterologists, this study proposed a quantitative polyp classification via various image features in colonoscopy. The collected image database was composed of 1991 images including 1053 hyperplastic polyps and 938 adenomatous polyps and adenocarcinomas. From each image, textural features were extracted and combined in machine learning classifiers and machine-generated features were automatically selected in deep convolutional neural networks (DCNN). The DCNNs included AlexNet, Inception-V3, ResNet-101, and DenseNet-201. AlexNet trained from scratch achieved the best performance of 96.4% accuracy which is better than transfer learning and textural features. Using the prediction models, the malignancy level of polyps can be evaluated during a colonoscopy to provide a rapid treatment plan.

Participants' experiences of the management of screen-detected complex polyps within a structured bowel cancer screening programme.

BACKGROUND: The Bowel Screening Wales complex polyp removal service was introduced to address variations in surgery rates for screen-detected complex benign colorectal polyps, to improve the quality of the screening service and to make management of these polyps more equitable across Wales. Little is known about patient experiences and the potential impact on quality of life when undergoing complex polyp removal. This study is part of a wider research programme evaluating the decision-making, pathways and outcomes from complex polyp removal. OBJECTIVE: This study aimed to understand experiences of having a complex polyp removed and how this may influence quality of life. DESIGN: Semi-structured telephone interviews were conducted, and a thematic approach was used for data analysis. SETTING AND PARTICIPANTS: All participants had a complex polyp removed after a positive stool test and review by Bowel Screening Wales' Network Multi-Disciplinary Team. RESULTS: Twenty-one participants were interviewed. Most participants had their complex polyps removed endoscopically and reported no or minor problems or negative outcomes following their procedure. For a small minority, worse problems (e.g., pain, bowel dysfunction) and negative outcomes (e.g., cancer) followed their procedures. Most participants felt supported and reassured throughout their procedures. Any physical and emotional changes to quality of life were mainly linked to procedure outcomes. DISCUSSION: Experiences of complex polyp removal were generally positive, with minimal changes in quality of life. CONCLUSIONS: While most people had a positive experience of having a complex polyp removed, support initiatives, such as counselling or signposting to coping strategies, may be helpful to reduce any potential negative effects of procedures on quality of life. PATIENT OR PUBLIC CONTRIBUTION: Four patient and public involvement partners provided feedback on participant materials.

Acromegaly and Colorectal Neoplasm: An Update.

Acromegaly is a systemic disease caused by excessive inappropriate secretion of GH and IGF-I levels, resulting in many systemic complications, including cardiovascular, respiratory, metabolic diseases, and a possible increased risk of some neoplasias. Although many studies on acromegaly and cancer remain uncertain, most data indicate that colorectal cancer (CRC) incidence is increased in this population. The exact mechanism involved in the role of GH-IGF-I axis in CRC has not been fully explained, yet it is associated with local and circulating effects of GH and IGF-I on the colon, promoting angiogenesis, cell proliferation, risk of mutation, inhibition of tumor-suppressor genes and apoptosis, thus facilitating a tumor microenvironment. Nevertheless, population-based studies present controversial findings on CRC incidence and mortality. All worldwide guidelines and expert consensuses agree with the need for colonoscopic screening and surveillance in acromegaly, although there is no consensus regarding the best period to do this. This review aims to analyze the existing data on CRC and acromegaly, exploring its pathophysiology, epidemiological studies and their limitations, colonic polyp characteristics, overall cancer and CRC incidences and mortality, risk factors for colon cancer pathophysiology, and recommendation guideline aspects.

Oral administration of TRAIL-inducing small molecule ONC201/TIC10 prevents intestinal polyposis in the Apc min/+ mouse model.

Colorectal cancer (CRC) incidence is rising globally. Hence, preventing this disease is a high priority. With this aim, we determined the CRC prevention potential of the TRAIL-inducing small molecule ONC201/TIC10 using a preclinical model representing high-risk familial adenomatous polyposis (FAP) patients, Apc min/+ mice. Prior to the efficacy study, optimal and non-toxic doses of ONC201 were determined by testing five different doses of ONC201 (0-100 mg/kg body weight (BW); twice weekly by oral gavage) in C57BL/6J mice (n=6/group) for 6 weeks. BW gain, organ weights and histopathology, blood profiling, and the plasma liver enzyme profile suggested no toxicities of ONC201 at doses up to 100 mg/kg BW. For efficacy determination, beginning at six weeks of age, groups of Apc min/+ male and female mice (n≥20) treated with colon carcinogen azoxymethane (AOM) (AOM-Apc min/+) were administered ONC201 (0, 25, and 50 mg/kg BW) as above up to 20 weeks of age. At termination, efficacy was determined by comparing the incidence and multiplicity of intestinal tumors between vehicle- and drug-treated groups. ONC201 showed a strong suppressive effect against the development of both large and small intestinal tumors in male and female mice. Apc min/+ mice treated with ONC201 (50 mg/kg BW) showed >50% less colonic tumor incidence (P<0.0002) than controls. Colonic tumor multiplicity was also significantly reduced by 68% in male mice (0.44 ± 0.11 in treated vs. 1.4 ± 0.14 in controls; P<0.0001) and by 75% in female mice (0.30 ± 0.10 in treated vs. 1.19 ± 0.19 in controls; P<0.0003) with ONC201 treatment (50 mg/kg BW). Small intestinal polyps were reduced by 68% in male mice (11.40 ± 1.19 in treated vs. 36.08 ± 2.62 in controls; P<0.0001) and female mice (9.65 ± 1.15 in treated vs. 29.24 ± 2.51 in controls; P<0.0001). Molecular analysis of the tumors suggested an increase in TRAIL, DR5, cleaved caspases 3/7/8, Fas-associated death domain protein (FADD), and p21 (WAF1) in response to drug treatment. Serum analysis indicated a decrease in pro-inflammatory serum biomarkers, such as IL1ß, IL6, TNFα, G-CSF, and GM-CSF, in the ONC201-treated mice compared with controls. Our data demonstrated excellent chemopreventive potential of orally administered ONC201 against intestinal tumorigenesis in the AOM-Apc min/+ mouse model.

Endoscopic Full-Thickness Resection for the Management of a Polyp in a Patient With Ulcerative Colitis.

Endoscopic full-thickness resection (EFTR) is an endoscopic technique utilized to excise challenging gastrointestinal lesions. While the safety and efficacy of EFTR are well-documented in the general population, its utilization in patients with inflammatory bowel disease (IBD) has not been reported. Here, we present a patient with a longstanding history (more than 10 years) of ulcerative colitis (UC) who was recently found to have a large, fibrotic, non-lifting adenoma in her descending colon. After a multidisciplinary discussion, it was determined that the best way to remove the adenoma would be by EFTR. To our knowledge, this is the first reported case that details the use of EFTR in a patient with IBD. The procedure was successful, and the patient did not experience any complications during the procedure or upon clinical follow-up.