Search Results (92)

Background/Objectives: Chemerin is an adipokine implicated in metabolic regulation, inflammation and cancer biology, but its value as a circulating biomarker in colorectal neoplasia remains uncertain. We investigated serum chemerin concentrations in patients with colorectal cancer (CRC), patients with colorectal polyps and colonoscopy-negative controls, and explored chemerin immunoreactivity in available polyp and tumour tissue. Methods: This exploratory observational case–control study included 41 patients with CRC, 20 patients with colorectal polyps and 29 colonoscopy-negative controls. Serum chemerin was measured by ELISA. Tissue specimens underwent routine histopathology and qualitative immunohistochemical staining for chemerin. Between-group comparisons were performed using non-parametric tests; subgroup analyses were exploratory and unadjusted. Results: Serum chemerin concentrations did not differ significantly between CRC and controls (median 144.0 vs. 135.7 ng/mL; p = 0.41), CRC and polyp groups (144.0 vs. 97.4 ng/mL; p = 0.24), or polyp and control groups (97.4 vs. 135.7 ng/mL; p = 0.94). Chemerin immunostaining was absent in CRC tissue (0/41) and conventional adenomatous polyps (0/15), whereas all available hyperplastic/serrated lesions showed epithelial cytoplasmic and/or stromal immunoreactivity (5/5); in lesions containing dysplasia, dysplastic glands showed no detectable staining. In controls, higher chemerin concentrations were associated with hyperglycaemia, hypertension, body weight and bilirubin, but these exploratory findings were not adjusted for multiplicity or metabolic confounding. Conclusions: In this exploratory cohort, serum chemerin did not discriminate CRC or colorectal adenoma from colonoscopy-negative controls. Together with the absence of staining in CRC and conventional adenomas, the findings argue against chemerin as a standalone circulating or commonly expressed tissue biomarker for these lesions under the assay conditions used. Immunoreactivity in the non-dysplastic epithelial and/or stromal compartments of hyperplastic/serrated lesions remains preliminary and requires prospective confirmation with standardised pre-analytics, quantitative pathology scoring and adjustment for metabolic confounders. Full article

Background/Objectives: Colorectal cancer (CRC) is the second leading cause of cancer-related mortality worldwide, with polyp miss rates of up to 26% reported during colonoscopy and classification accuracy remaining highly operator-dependent. Accurate multi-class polyp subtype classification is clinically critical, as it directly determines treatment decisions: adenomatous polyps require resection, whereas hyperplastic lesions may warrant only surveillance. This study aims to systematically compare five deep learning architectures for five-class gastrointestinal polyp classification and to provide clinically interpretable diagnostic insights through Grad-CAM visualisation. Methods: ResNet50, VGG16, EfficientNet-B3, DenseNet121, and Vision Transformer (ViT-B/16) were evaluated on the Kvasir Dataset V2 (5000 images, five classes) under a unified training and evaluation protocol on common GPU hardware. All models employed ImageNet transfer learning with a redesigned multi-layer classification head. Two optimisation strategies were applied: SGD with cosine annealing for CNN architectures, and AdamW with linear warmup for ViT-B/16. Gradient-weighted Class Activation Mapping (Grad-CAM) was applied to generate spatial attention heatmaps for qualitative clinical interpretation. Results: Under a single 80/10/10 split, ViT-B/16 attained the highest accuracy (97.2%); however, because a single split is sensitive to sampling, the evaluation was strengthened with stratified five-fold cross-validation (mean ± SD). Under cross-validation, EfficientNet-B3 achieved the highest accuracy at 95.90 ± 0.35%, followed closely by ViT-B/16 (95.12 ± 0.72%), then ResNet50 (91.74 ± 0.74%), DenseNet121 (90.32 ± 0.70%), and VGG16 (88.50 ± 1.72%); the small standard deviations indicate that all models, including ViT-B/16, were stable across folds. Pairwise McNemar tests with Holm correction found that every difference was statistically significant (p < 0.05), including the EfficientNet-B3 advantage over ViT-B/16 (p = 0.010). ViT-B/16 thus remained a strong, stable performer that significantly outperformed the three remaining CNNs, while the cross-validated ranking placed the most compact model, EfficientNet-B3, first: a Vision Transformer was highly competitive with, but not superior to, the strongest CNN. A consistent, architecture-agnostic misclassification pattern was identified between dyed-lifted polyps and dyed-resection margins across all five models, consistent with a task-level visual ambiguity that may also reflect overlapping class definitions and annotation factors, with direct clinical implications. Grad-CAM analysis, quantified by attention-entropy and concentration metrics, showed that model attention remained focused on relevant stained tissue regardless of whether predictions were correct, indicating that the dyed-class confusions reflect genuine visual ambiguity rather than a localisation failure. Conclusions: Under cross-validation, EfficientNet-B3 achieved the highest accuracy on the Kvasir V2 five-class task, significantly outperforming all other architectures, with ViT-B/16 being a close and competitive second. The identified confusion between post-procedural chromoendoscopic classes is unlikely to be fully resolved by architectural changes alone and may require higher-resolution imaging or domain expert re-annotation. These findings contribute to the evidence base for explainable deep learning in gastrointestinal endoscopy; external, multi-centre validation remains necessary before clinical adoption. Full article

Introduction: Obesity and colorectal cancer risk relationship is well-documented and bariatric surgery has become one of the most common surgical operations for losing weight. There is no guideline suggestion for the candidates of bariatric surgery for routine screening of colorectal cancer. The aim of this systematic review is to evaluate the place and necessity of screening colonoscopy before weight loss surgery under the light of published articles. Methods: A systematic literature review was conducted in accordance with PRISMA guidelines using electronic databases of PubMed and Google Scholar. The protocol was registered in the International Platform of Registered Systematic Review and Meta-analysis Protocols (INPLASY; registration number: INPLASY202630078). No restrictions were applied regarding the publication dates of the articles. We performed the PRISMA guidelines for systematic review and the PICOS framework was employed. Results: A total of 623 patients, 365 women and 258 men, underwent routine colonoscopy before bariatric surgery in three cohort studies. The average age and body mass index of the patients were 47.4 ± 10.4 (range 14–87) and 43.7 ± 7.1 kg/m², respectively. A total of 57 (9.1%) histologically confirmed pathologies were found during colonoscopy, 51 adenomatous polyps (8.1%) and six (1.0%) colorectal cancers. Five of the six CRC patients (83%) were over 45 years of age and three (50%) of them were over 60 years of age. Conclusions: The decision to screen bariatric surgery candidates for colorectal cancer should be individualized, based on age (≥45 years), family history, symptomatology, and comorbidities (inflammatory bowel disease). Bariatric surgeons should strongly consider colorectal cancer screening as part of preoperative workup in eligible patients. Full article

Introduction: Colorectal cancer remains a leading cause of cancer-related morbidity and mortality, with adenomatous polyps representing a common precursor. Post-polypectomy polyp recurrence represents a significant risk of colorectal cancer, driving periodic colonoscopy surveillance and polypectomy as needed. In this study, we explore a multimodal machine learning approach that integrates endoscopic imaging with clinical and pathology data to improve recurrence risk prediction and support individualized surveillance planning. Methods: We developed and evaluated a multimodal artificial intelligence (AI) model to predict post-polypectomy colorectal polyp recurrence using the ERCPMP-v5 dataset. The cohort included 217 patients with 796 high-resolution endoscopic RGB images and 21 endoscopic videos; video data were converted to still frames at 2 frames per second. Images and frames were resized to 224 × 224 pixels and normalized. Patient-level demographic, morphological (Paris, Kudo Pit, JNET), anatomical, and pathological variables were encoded using standard scaling for continuous features and one-hot encoding for categorical features. Visual representations were extracted using a pretrained Vision Transformer backbone (ViT-Base-Patch16-224) with frozen weights. Structured metadata (79 variables) was encoded using a multilayer perceptron. A late fusion framework used image and metadata representations to generate a recurrence probability via a sigmoid classifier; probabilities were thresholded at 0.5 for binary prediction. Model performance was evaluated on a held-out test set using accuracy, precision, recall, F1-score, and area under the receiver operating characteristic curve (AUC). We additionally compared fusion performance with image-only and metadata-only baselines. Predicted probabilities were translated to surveillance recommendations using risk tiers: low risk (0.00 ≤ p < 0.20), moderate risk (0.20 ≤ p < 0.50), and high risk (p ≥ 0.50). Results: On the test set, the multimodal fusion model achieved 90.4% accuracy, 86.7% precision, 83.1% recall, 84.9% F1-score, and an AUC of 0.920. The image-only model achieved 84.6% accuracy (AUC 0.880), and the metadata-only model achieved 81.9% accuracy (AUC 0.850), indicating improved performance with multimodal fusion. Risk stratification enabled surveillance recommendations of 1–3 years for low risk, 6–12 months for moderate risk, and 3–6 months for high risk. Conclusions: A late-fusion multimodal model integrating endoscopic imaging with structured clinical and pathology variables demonstrated excellent performance for predicting post-polypectomy recurrence and generated actionable risk-based surveillance intervals. This approach may support individualized follow-up planning and more efficient allocation of surveillance resources, while prioritizing timely evaluation for patients at higher predicted risk. Full article

Colorectal cancer (CRC) persists as a significant public health burden due to its high morbidity and mortality rates worldwide, yet the molecular events that govern its initiation and progression remain incompletely understood. We recently conducted microRNA (miRNA) profiling and identified multiple dysregulated miRNAs in CRC compared to adjacent normal tissue. Among those, miR-138-5p emerged as a potential tumor suppressor due to its marked downregulation in CRC tissue; however, the stage-specific expression of this miRNA during CRC progression and underlying molecular mechanisms remains to be unraveled. In this study, we performed differential expression profiling of healthy colon, adenomatous polyp (AP), and CRC tissues based on public datasets, revealing significant downregulation of miR-138-5p in CRC compared to controls, but not during the AP stage, suggesting a role in later stages of malignant progression. Forced expression of miR-138-5p in HCT116 and HT-29 CRC models suppressed clonogenic survival, proliferation, and migration while inducing cell death. Additionally, miR-138-5p significantly inhibited tumor formation under three-dimensional culture settings, reinforcing its tumor-suppressive function in a physiologically relevant context. Transcriptomic profiling of miR-138-5p-overexpressing CRC models revealed widespread changes in the pathways related to zinc ion binding, cilium morphogenesis, smoothened signaling, and nuclear transport. Integrated computational and experimental analyses identified 41 potential gene targets, among which TCF3, UBE2C, EIF4EBP1, LYPLA1, and CD44 were validated as potential miR-138-5p-regulated genes. Collectively, these findings establish miR-138-5p as a stage-specific tumor suppressor in CRC, acting through coordinated regulation of oncogenic networks across multiple pathways. Downregulation of miR-138-5p appears to be a late oncogenic event, conferring proliferative, survival, and invasive advantages to tumor cells. Restoration of miR-138-5p or therapeutic targeting of its downstream effectors may represent promising avenues for CRC therapeutic intervention. Full article

Gastric-type lesions in the duodenum, including pyloric gland adenoma and gastric foveolar metaplasia, have been increasingly recognized for their unique histogenesis and potential link through the metaplasia–neoplasia sequence. However, the coexistence of neoplastic and non-neoplastic gastric-type lesions within the same histological section has not been previously reported. Here, we present a case of a 73-year-old Japanese woman who underwent endoscopic submucosal dissection for a 34 × 20 mm elevated lesion in the duodenal bulb. Based on the preoperative biopsy results, pyloric gland adenoma was diagnosed; however, histopathological examination of the resected specimen revealed a far more complex picture. The main lesion consisted of two contiguous components: a hyperplastic polyp with gastric foveolar-type phenotype (Lesion I) and a pyloric gland adenoma mixed with gastric foveolar-type hyperplastic polyp (Lesion II). Importantly, the transitional zone between these components demonstrated histological continuity, with areas showing admixture of hyperplastic and adenomatous features within the same microscopic field. A separate hyperplastic polyp with gastric foveolar-type phenotype (Lesion III) was also identified, separated from Lesions I and II by intervening normal duodenal mucosa. All lesions shared a gastric-type mucin phenotype (MUC5AC-positive, CD10-negative), and extensive Brunner’s gland hyperplasia was observed throughout the specimen. This case provides compelling morphological evidence for a histogenetic link between non-neoplastic gastric-type hyperplasia and pyloric gland adenoma, supporting the concept of a metaplasia–neoplasia sequence in the duodenum. Furthermore, the presence of an additional separate lesion with the same phenotype suggests a field change in the development of gastric-type lesions. Full article

Background: Colorectal cancer (CRC) is the third most diagnosed type of cancer and the second leading cause of cancer-related death. However, the increase in CRC incidence observed over the last 50 years has been accompanied by an overall reduction in mortality thanks to improved diagnostic strategies, patient follow-up, and more targeted therapies. Gastrointestinal adenomatous polyposis syndromes are a group of hereditary syndromes that predispose individuals to gastrointestinal tumors. These syndromes, characterized by the onset of gastrointestinal adenomas, are genetically heterogeneous. Methods: We analyzed 60 subjects with clinical suspicion or diagnosis of polyposis using next-generation sequencing (NGS). An additional 20 healthy individuals, all negative for pathogenic variants, were included in the study as a control population. We also performed bioinformatic analyses to investigate the hypothesis that benign variants could still be partially destructive, even though they cannot, by themselves, be responsible for the onset of disease. Results: Germline pathogenic variants were identified in 55% (33/60) of affected patients (MUT⁺), while variants of uncertain significance (VUS) were identified in 18.3% of affected patients (11/60). No variants were detected in the remaining 26.7% (16/60) of patients (MUT⁻). A genotype-phenotype correlation emerged from this study: MUT⁺ patients exhibited a significantly earlier age of onset and a higher number of polyps compared to VUS or MUT⁻ patients. Furthermore, Mendelian inheritance was significatively more frequent in MUT⁺ and VUS patients than in MUT⁻ individuals. Finally, the investigation of benign variants identified an SNP (single nucleotide polymorphism) of the APC gene promoter and a cluster of variants in POLD1, in which bioinformatic analysis predicted altered gene expression. Conclusions: These results suggest that, although MUT⁻ patients may develop multiple gastrointestinal adenomatous polyps, they are likely to have a familial predisposition rather than a Mendelian disorder. Furthermore, we propose that certain benign variants may be partially deleterious, potentially contributing to disease onset and/or act as phenotypic modifiers, likely through additive effects. Full article

Background: Pediatric gastrointestinal polyps represent a heterogeneous entity with variable clinical behavior, ranging from solitary benign lesions to syndromic forms associated with significant malignant potential. This study provides contemporary data, including upper GI and small-bowel polyps, with an unusually high syndromic yield (27.6%) compared to prior pediatric cohorts. Methods: This retrospective single-center study included children aged 0–18 years who underwent esophagogastroduodenoscopy and/or colonoscopy and were diagnosed with at least one gastrointestinal polyp between January 2015 and October 2025. Demographic characteristics, presenting symptoms, endoscopic features, histopathology, management strategies, and status of polyposis syndrome were collected. Statistical analyses were performed using IBM SPSS Statistics 27.0, with a significance threshold of p < 0.05. Results: Seventy-six patients (mean age 10.6 ± 5.0 years; 47.4% female) were evaluated. Gastrointestinal bleeding was the most common presenting symptom (37.1%). Solitary (63.2%) and sessile (59.2%) polyps predominated, with a median size of 7.0 mm (IQR 3.2–20.0). Juvenile (28.9%) and inflammatory (22.4%) polyps were the most frequent histologic subtypes. Polyposis syndromes were identified in 27.6% of patients and were significantly associated with multiple polyps (p < 0.001), proximal or intestinal distribution (p < 0.001), and adenomatous or hamartomatous histology (p < 0.001). Endoscopic polypectomy was successful in 94.7% of cases, with no major complications reported. Conclusions: Given the 27.6% prevalence of polyposis syndromes observed in this cohort, pediatric gastrointestinal polyps cannot be assumed to be uniformly benign. Our findings support comprehensive endoscopic evaluation, routine histopathology, and early genetic referral, specifically in patients with multiple, proximal, or mixed-morphology polyps. Full article

Background/Objectives: Familial adenomatous polyposis (FAP) is an autosomal dominant disorder caused by pathogenic variants in the adenomatous polyposis coli (APC) gene. Its attenuated form (AFAP) is characterized by fewer colorectal polyps and later onset of colorectal cancer. We aimed to characterize the molecular effects of a novel APC gene variant (NM_000038.6: c.1620_1624delinsT) identified in a patient with AFAP. Methods: A 56-year-old man with the AFAP phenotype underwent germline testing via a multigene NGS panel, which identified a novel APC gene variant (NM_000038.6: c.1620_1624delinsT). In silico analyses predicted disruption of the canonical donor splice site and a frameshift followed by the introduction of a premature stop codon. The transcriptional impact of the identified APC gene variant was investigated by mRNA analysis. Results: mRNA analysis revealed two distinct APC transcripts: the first transcript led to a truncated protein (p.Leu540PhefsTer8), and the second transcript lacked exon 12, resulting in an in-frame 26 amino acid deletion of APC protein (p.Ala517_Gly542del). The transcript lacking exon 12 was more abundant than the transcript with a premature stop codon, likely due to degradation through nonsense-mediated decay. Conclusions: The APC gene variant (NM_000038.6: c.1620_1624delinsT) exhibits a dual transcriptional effect, revealing its pathogenic role in AFAP. This study highlights the diagnostic value of combined DNA–RNA germline testing for improving the clinical classification of novel APC gene variants and their genotype–phenotype correlations in FAP. Full article

Background/Objectives: Colorectal cancer (CRC) is the third most common cancer and a leading cause of death worldwide. Identifying non-invasive, early indicators of CRC risk remains essential and could help reduce its health burden. Excess adiposity and chronic inflammation are major predisposing factors for precancerous adenomatous polyposis (AP) and CRC, while diet- or surgery-induced weight loss was associated with a reduced risk. Viral infections also represent cancer risk factors through direct or synergic mechanisms, though no definitive causal link has been established for CRC. Moreover, interest is growing on the role of oral viruses as predictors of disease. Methods: In this study, highly sensitive and specific Luminex-based screening assays were used to perform a comprehensive characterization of oral infections by Human Herpes (HHV), Polyoma (HPyV) and Papilloma (HPV) Viruses in CRC patients (N = 50), healthy controls (N = 46; normal weight, NW = 26; overweight, OW = 20), and high-risk individuals with obesity (N = 35) or adenomatous polyposis (AP, N = 22). Results: We observed increased HPyV prevalence in AP, and higher single and multiple β-HPV infection rates in AP and CRC compared to controls. A panel of β-HPV genotypes, including oncogenic HPV5, was overrepresented in CRC and high-risk groups, and some of them showed an association with the male sex. The prevalence of most infections decreased in the obese cohort following bariatric surgery, alongside weight loss and reduction of inflammatory markers. Furthermore, oral infections by viral types previously detected in CRC tissue and adjacent mucosa also declined after surgery. Conclusions: Altogether, these findings suggested a role for oral β-HPV types as potential sex- and lifestyle-related, modifiable indicators of cancer risk. Full article

Background: In patients with familial adenomatous polyposis (FAP), the duodenum is another high-risk region for malignancy after the large bowel. However, endoscopic and surgical management differs for papillary lesions and adenomas located in other parts of the duodenum. The aim of the study was to present the principles of the endoscopic surveillance of extrapapillary polyps based on a single-center 14-year observational study. Methods: The retrospective analysis was carried out in 2010–24 on a group of 45 people enrolled in endoscopic surveillance of the upper gastrointestinal tract due to FAP. The evaluation was aimed at detecting the malignant transformation of extrapapillary duodenal adenomas, with a radical removal of high-risk lesions. The severity of polyposis in the subsequent years of observation as well as the effectiveness of routine polypectomy on downstaging according to the Spiegelmann score were also assessed. Results: Invasive duodenal cancer was not detected in any case; however, high-grade dysplasia (HGD) was confirmed in five patients. The severity of polyposis and the number of polyps with HGD increased in following examinations, but routine polypectomy performed mainly during the 4th and 5th endoscopies allowed for a transient decrease in the Spiegelman score. Finally, progression of duodenal polyposis was observed in 18 patients, another 4 experienced regression (downstaging) and in 23 cases the stage of severity did not change. In addition, five patients were diagnosed with LST-G lesions, which were removed without recurrence. Conclusions: The patient’s age correlates with the severity of polyposis and the risk of malignancy, but routine endoscopic resections eliminate potentially invasive lesions and contribute to disease regression expressed by the Spiegelmann score. The radical endoscopic therapy of extrapapillary duodenal lesions limits the indications for surgical procedures. Full article

Background: Colorectal cancer (CRC) is a major contributor to cancer mortality on a global scale, with polyps being critical precursors. The accurate classification of colorectal polyps (CRPs) from colonoscopy images is essential for the timely diagnosis and treatment of CRC. Method: This research proposes a novel hybrid model, CRP-ViT, integrating ResNet50 with Vision Transformers (ViTs) to enhance feature extraction and improve classification performance. This study conducted a comprehensive comparison of the CRP-ViT model against traditional convolutional neural networks (CNNs) and emerging quantum neural networks (QNNs). Experiments were conducted for binary classification to predict the presence of polyps and multi-classification to predict specific polyp types (hyperplastic, adenomatous, and serrated). Results: The results demonstrate that CRP_QNN-ViT achieved superior classification performance while maintaining computational efficiency. CRP_QNN-ViT achieved an accuracy of 98.18% for training and 97.73% for validation on binary classification and 98.13% during training and 97.92% for validation on multi-classification tasks. In addition to the key metrics, computational parameters were compared, where CRP_QNN-ViT excelled in computational time. Conclusions: This comparative analysis reveals the potential of integrating quantum computing into medical image analysis and underscores the effectiveness of transformer-based architectures for CRP classification. Full article

Microbiome data analysis is essential for understanding the role of microbial communities in human health. However, limited data availability often hinders research progress, and synthetic data generation could offer a promising solution to this problem. This study aims to explore the use of machine learning (ML) to enrich an unbalanced dataset consisting of microbial operational taxonomic unit (OTU) counts of 148 samples, belonging to 61 patients. In detail, 34 samples are from 16 adenomatous polyps (AP) patients, while 114 samples are from 46 colorectal cancer (CRC) patients. Synthesis of AP and CRC samples was conducted using the Synthetic Data Vault Python library, employing a Gaussian Copula synthesiser. Subsequently, the synthesised data quality was evaluated using a logistic regression model in parallel with an optimised support vector machine algorithm (polynomial kernel). The data quality is considered good when neither of the two algorithms can discriminate between real and synthetic data, showing low accuracy, F1 score, and precision values. Furthermore, additional statistical tests were employed to confirm the similarity between real and synthetic data. After data validation, layer-wise relevance propagation (LRP) was performed on a deep learning classifier to extract important OTU features from the generated dataset, to discriminate between CRC patients and those affected by AP. Exploiting the acquired features, which correspond to unique bacterial taxa, ML classifiers were trained and tested to estimate the validity of such microorganisms in recognising AP and CRC samples. The simplified version of the original OTU table opens up opportunities for further investigations, especially in the realm of extensive data synthesis. This involves a deeper exploration and augmentation of the condensed data to uncover new insights and patterns that might not be readily apparent in the original, more complex form. Digging deeper into the simplified data may help us better grasp the biological or ecological processes reflected in the OTU data. Transitioning from this exploration, the synergy of ML and synthetic data enrichment holds promise for advancing microbiome research. This approach enhances classification accuracy and reveals hidden microbial markers that could prove valuable in clinical practice as a diagnostic and prognostic tool. Full article

Colorectal cancer remains one of the leading causes of cancer-related deaths globally. Non-protein coding RNAs, including microRNAs, have emerged as crucial regulators in cancer progression. Herein, we analyzed publicly available datasets for miRNA expression in healthy controls, adenomatous polyps, and colorectal cancer and identified their regulatory networks using HCT116 and HT-29 CRC models. Differentially expressed miRNAs in adenomatous polyps and colorectal cancer were identified, highlighting their role in colorectal cancer initiation and progression. Notably, miR-218-5p was significantly downregulated in adenomatous polyps and colorectal cancer, suggesting a role in colorectal cancer initiation. Functional investigations revealed a tumor suppressive role for miR-218-5p in HCT116 and HT-29 CRC cell models, affecting cell proliferation and three-dimensional organoid formation and promoting cell death. RNA-Seq and bioinformatics identified BIRC5 and DDX21 as bona fide gene targets for miR-218-5p, validated by reverse transcription quantitative PCR and Western blotting. Further investigation into the genomic location of miR-218-5p, embedded within the SLIT2 and SLIT3 introns on chromosome 4 and chromosome 5, respectively, revealed epigenetic silencing through promoter hypermethylation in colorectal cancer cell models. These findings highlight epigenetic silencing of miR-218-5p in colorectal cancer, suggesting its potential as a biomarker and therapeutic target for early detection and intervention. Full article

Background: Hereditary colorectal cancer syndromes, including familial adenomatous polyposis (FAP), Lynch syndrome (LS), and Peutz–Jeghers syndrome (PJS), are associated with an increased risk of small bowel cancer (SBC). Due to the low incidence and non-specific presentation of SBC, effective surveillance strategies are essential for early detection and management. This review aims to evaluate and compare current endoscopic techniques for small bowel surveillance in these patients. Methods: A comprehensive review was conducted using peer-reviewed studies sourced from PubMed. Various endoscopic modalities, including capsule endoscopy (CE), device-assisted enteroscopy (DAE), and intraoperative enteroscopy (IOE), were assessed for their diagnostic yield, safety, and clinical utility. Surveillance recommendations of the different syndromes were also examined. Results: CE offers high sensitivity but lacks histological sampling capability. DAE, including double-balloon enteroscopy (DBE) and single-balloon enteroscopy (SBE), enables direct visualization, biopsy, and therapeutic interventions, albeit with greater procedural complexity. In FAP, duodenal surveillance follows the Spigelman classification to stratify cancer risk, while jejunal and ileal polyps remain less studied. LS patients have an increased SBC risk, warranting tailored endoscopic approaches. In PJS, surveillance aims to mitigate intussusception risks and allow early malignancy detection. Conclusions: Optimized surveillance strategies in hereditary colorectal cancer syndromes require a multimodal approach, integrating advanced endoscopic techniques with genetic risk stratification. Centralized care in tertiary centers improves outcomes by ensuring standardized surveillance protocols and enhancing early cancer detection. Artificial intelligence (AI) applied to CE and DAE is shaping promising prospects for the future surveillance of small bowel polyps by enhancing diagnostic accuracy and reducing the duration of the diagnostic process. Further research should investigate AI-assisted imaging and molecular biomarkers to optimize screening strategies. Full article