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DEN Open Apr 2024Cronkhite-Canada syndrome (CCS) is a rare disease characterized by gastrointestinal polyposis, skin pigmentation, alopecia, and abnormal nailfolds. Although colorectal...
Cronkhite-Canada syndrome (CCS) is a rare disease characterized by gastrointestinal polyposis, skin pigmentation, alopecia, and abnormal nailfolds. Although colorectal cancer has been reported in patients with CCS, reports are limited regarding the effectiveness of the usage of image-enhanced endoscopy in CCS lesions. Here, we report a case of CCS in which narrow-band imaging (NBI) magnifying endoscopy was applied to detect an adenomatous component in multiple hamartomatous polyps. A 79-year-old female complained of taste disorder, anorexia, and weight loss over several months. Endoscopic examination revealed multiple reddened polyps in the stomach and colon, leading to a diagnosis of CCS. Narrow-band imaging magnification showed sparse and dilated round pits on the CCS polyps. Furthermore, 12 out of the numerous colorectal CCS polyps had a coexisting light reddish elevated component with a regular distribution of microvessels and a regular reticular pattern. This pattern satisfied the criteria for Type 2A of the Japan Narrow-band-imaging Expert Team classification, indicating adenoma. After resection, these twelve polyps were subject to pathological analysis, which confirmed they were all hamartomatous polyps with low-grade adenoma on the superficial layer. Immunohistochemical analysis revealed a significant increase in the Ki-67 index and p53 staining only in the adenomatous lesions. We conclude that narrow-band imaging magnifying endoscopy would be useful in differentiating adenoma from CCS-related polyps, which thereby facilitates early detection and treatment of precancerous lesions.
PubMed: 37333979
DOI: 10.1002/deo2.257 -
Diseases of the Colon and Rectum Jun 2024IPAA is often required for patients with ulcerative colitis or familial adenomatous polyposis after colectomy. This procedure reduces but does not completely eliminate... (Review)
Review
BACKGROUND
IPAA is often required for patients with ulcerative colitis or familial adenomatous polyposis after colectomy. This procedure reduces but does not completely eliminate the risk of neoplasia.
OBJECTIVE
This study focuses on the histopathology of neoplasia in the ileal pouch, rectal cuff, and anal transition zone.
DATA SOURCES
We performed a MEDLINE search for English-language studies published between 1981 and 2022 using the PubMed search engine. The terms "ileal pouch-anal anastomosis," "pouchitis," "pouch dysplasia," "pouch lymphoma," "pouch squamous cell carcinoma," "pouch adenocarcinoma," "pouch neoplasia," "dysplasia of rectal cuff," and "colitis-associated dysplasia" were used.
STUDY SELECTION
Human studies of neoplasia occurring in the pouch and para-pouch were selected, and the full text was reviewed. Comparisons were made within and across studies, with key concepts selected for inclusion in this article.
CONCLUSIONS
Neoplasia in the pouch is a rare complication in patients with IPAA. Annual endoscopic surveillance is recommended for familial adenomatous polyposis patients and ulcerative colitis patients with a history of prior dysplasia or carcinoma. In familial adenomatous polyposis, dysplastic polyps of the pouch are visible and readily amenable to endoscopic removal; however, glandular dysplasia in the setting of ulcerative colitis may be invisible on endoscopy. Therefore, random biopsies and adequate tissue sampling of the pouch and rectal cuff are recommended in this setting. The histological diagnosis of IBD-associated dysplasia can be challenging and should be confirmed by at least 1 expert GI pathologist. See video from the symposium.
Topics: Humans; Adenomatous Polyposis Coli; Colonic Pouches; Proctocolectomy, Restorative; Colitis, Ulcerative; Pouchitis; Adenocarcinoma; Inflammatory Bowel Diseases
PubMed: 38422398
DOI: 10.1097/DCR.0000000000003320 -
Clinical Gastroenterology and... May 2024High-risk adenomas predict metachronous advanced adenomatous neoplasia. Limited data exist on predictors of metachronous advanced serrated lesions (mASLs). We analyzed...
BACKGROUND AND AIMS
High-risk adenomas predict metachronous advanced adenomatous neoplasia. Limited data exist on predictors of metachronous advanced serrated lesions (mASLs). We analyzed clinical and endoscopic predictors of mASLs.
METHODS
In this retrospective cohort study, adults with >1 outpatient colonoscopy between 2008 and 2019 at a tertiary center were included. Serrated lesions (SLs) included sessile SLs (SSLs), traditional serrated adenomas (TSAs), and hyperplastic polyps (HPs). Patient and endoscopic characteristics were obtained using electronic medical records. Five-year cumulative incidence of mASL (HP ≥10 mm, SSL ≥10 mm or with dysplasia, any TSA) and factors associated with mASL were evaluated using Kaplan-Meier estimates and Cox proportional hazards models.
RESULTS
A total of 4990 patients were included and 45.4% were women. Mean age was 60.9 ± 9.2 years and median follow-up time was 3.7 years. Female sex and active smoking were associated with mASL. Endoscopically, any SSL and TSA were associated with mASL. The 5-year cumulative incidence for mASL was 26% (95% confidence interval [CI], 18%-32%) for SSL ≥10 mm, 17% (95% CI, 3.5%-29%) for HP ≥10 mm, 21% (95% CI, 0%-42%) for 3-4 SSLs <10 mm, 18% (95% CI, 0%-38%) for TSA, and 27% (95% CI, 3.6%-45%) for SSL with low-grade dysplasia. Baseline synchronous nonadvanced SL and nonadvanced adenoma were not associated with mASL.
CONCLUSIONS
Our data support current recommendations for a 3-year surveillance interval in patients with baseline SSL ≥10 mm, SSL with dysplasia, and TSA. A 3-year interval may be more appropriate than 3-5 years for patients with baseline HP ≥10 mm or 3-4 SSLs <10 mm. Patients with synchronous nonadvanced SLs and adenomas do not appear to be at increased risk of mASL.
Topics: Humans; Male; Female; Middle Aged; Retrospective Studies; Colorectal Neoplasms; Colonoscopy; Aged; Adenoma; Incidence; Colonic Polyps; Neoplasms, Second Primary; Risk Factors
PubMed: 37544421
DOI: 10.1016/j.cgh.2023.07.020 -
Endoscopy International Open Jun 2024There is limited consensus on the optimal method for measuring disease severity in familial adenomatous polyposis (FAP). We aimed to systematically review the operating... (Review)
Review
There is limited consensus on the optimal method for measuring disease severity in familial adenomatous polyposis (FAP). We aimed to systematically review the operating properties of existing endoscopic severity indices for FAP. We searched MEDLINE, EMBASE, and the Cochrane Library from inception to February 2023 to identify randomized controlled trials (RCTs) that utilized endoscopic outcomes or studies that evaluated the operating properties of endoscopic disease severity indices in FAP. A total of 134 studies were included. We evaluated scoring indices and component items of scoring indices, such as polyp count, polyp size, and histology. Partial validation was observed for polyp count and size. The most commonly reported scoring index was the Spigelman classification system, which was used for assessing the severity of duodenal involvement. A single study reported almost perfect interobserver and intra-observer agreement for this system. The InSIGHT polyposis staging system, which was used for assessing colorectal polyp burden, has been partially validated. It showed substantial interobserver reliability; however, the intra-observer reliability was not assessed. Novel criteria for high-risk gastric polyps have been developed and assessed for interobserver reliability. However, these criteria showed a poor level of agreement. Other scoring indices assessing the anal transition zone, duodenal, and colorectal polyps have not undergone validation. There are no fully validated endoscopic disease severity indices for FAP. Development and validation of a reliable and responsive endoscopic disease severity instrument will be informative for clinical care and RCTs of pharmacological therapies for FAP.
PubMed: 38904059
DOI: 10.1055/a-2330-8037 -
Mathematical Biosciences and... Nov 2023Colorectal malignancies often arise from adenomatous polyps, which typically begin as solitary, asymptomatic growths before progressing to malignancy. Colonoscopy is...
Colorectal malignancies often arise from adenomatous polyps, which typically begin as solitary, asymptomatic growths before progressing to malignancy. Colonoscopy is widely recognized as a highly efficacious clinical polyp detection method, offering valuable visual data that facilitates precise identification and subsequent removal of these tumors. Nevertheless, accurately segmenting individual polyps poses a considerable difficulty because polyps exhibit intricate and changeable characteristics, including shape, size, color, quantity and growth context during different stages. The presence of similar contextual structures around polyps significantly hampers the performance of commonly used convolutional neural network (CNN)-based automatic detection models to accurately capture valid polyp features, and these large receptive field CNN models often overlook the details of small polyps, which leads to the occurrence of false detections and missed detections. To tackle these challenges, we introduce a novel approach for automatic polyp segmentation, known as the multi-distance feature dissimilarity-guided fully convolutional network. This approach comprises three essential components, i.e., an encoder-decoder, a multi-distance difference (MDD) module and a hybrid loss (HL) module. Specifically, the MDD module primarily employs a multi-layer feature subtraction (MLFS) strategy to propagate features from the encoder to the decoder, which focuses on extracting information differences between neighboring layers' features at short distances, and both short and long-distance feature differences across layers. Drawing inspiration from pyramids, the MDD module effectively acquires discriminative features from neighboring layers or across layers in a continuous manner, which helps to strengthen feature complementary across different layers. The HL module is responsible for supervising the feature maps extracted at each layer of the network to improve prediction accuracy. Our experimental results on four challenge datasets demonstrate that the proposed approach exhibits superior automatic polyp performance in terms of the six evaluation criteria compared to five current state-of-the-art approaches.
Topics: Humans; Colorectal Neoplasms; Neural Networks, Computer; Image Processing, Computer-Assisted
PubMed: 38052639
DOI: 10.3934/mbe.2023891 -
Acta Medica Indonesiana Oct 2023Colorectal cancer (CRC) is a significant contributor to cancer-related morbidity and mortality. Biopsy remains the gold standard for CRC diagnosis, but invasive testing...
BACKGROUND
Colorectal cancer (CRC) is a significant contributor to cancer-related morbidity and mortality. Biopsy remains the gold standard for CRC diagnosis, but invasive testing may not be preferred as an initial diagnostic procedure. Therefore, alternative non-invasive approaches are needed. Circulating tumor cells (CTC) present in the bloodstream have great potential as a non-invasive diagnostic marker for CRC patients. This study aimed to assess the diagnostic potential of CTC in CRC as an adjunctive diagnostic method using a subjective manual identification method and laser capture microdissection at 40x magnification.
METHODS
A cross-sectional study was conducted on adult patients suspected to have CRC at Dr. Cipto Mangunkusumo National General Hospital, Jakarta, between November 2020 and March 2021. CTC analysis was performed using the negative selection immunomagnetic method with Easysep™ and the CD44 mesenchymal tumor marker. The identification and quantification of CTC were conducted manually and subjectively, with three repetitions of cell counting per field of view at 40x magnification.
RESULTS
Of 80 subjects, 77.5% were diagnosed with CRC, while 7.5% and 15% exhibited adenomatous polyps and inflammatory/hyperplastic polyps, respectively. The diagnostic analysis of CTC for detecting CRC (compared to polyps) using a CTC cutoff point of >1.5 cells/mL suggested sensitivity, specificity, and positive predictive value (PPV) of 50%, 88.89%, and 93.94%. Additionally, the negative predictive value (NPV), as well as the positive and negative likelihood ratio (PLR and NLR) were 34.04%, 4.5, and 0.56, respectively. The subjective manual identification and quantification of CTC were performed at 40x magnification using laser capture microdissection.
CONCLUSION
This study assessed the diagnostic potential of CTC examination in CRC as an adjunctive diagnostic method using the subjective manual identification method and laser capture microdissection at 40x magnification. Despite the limitations associated with subjective cell counting, the results showed 50% sensitivity and 88.89% specificity in diagnosing CRC. Further studies are needed to optimize the manual identification process and validate the clinical utility of CTC analysis in CRC patients.
Topics: Adult; Humans; Colonography, Computed Tomographic; Neoplastic Cells, Circulating; Cross-Sectional Studies; Colorectal Neoplasms; Predictive Value of Tests
PubMed: 38213054
DOI: No ID Found -
Annals of Diagnostic Pathology Oct 2024High risk features in colorectal adenomatous polyps include size >1 cm and advanced histology: high-grade dysplasia and villous architecture. We investigated whether...
High risk features in colorectal adenomatous polyps include size >1 cm and advanced histology: high-grade dysplasia and villous architecture. We investigated whether the diagnostic rates of advanced histology in colorectal adenomatous polyps were similar among institutions across the United States, and if not, could differences be explained by patient age, polyp size, and/or CRC rate. Nine academic institutions contributed data from three pathologists who had signed out at least 100 colorectal adenomatous polyps each from 2018 to 2019 taken from patients undergoing screening colonoscopy. For each case, we recorded patient age and sex, polyp size and location, concurrent CRC, and presence or absence of HGD and villous features. A total of 2700 polyps from 1886 patients (mean age: 61 years) were collected. One hundred twenty-four (5 %) of the 2700 polyps had advanced histology, including 35 (1 %) with HGD and 101 (4 %) with villous features. The diagnostic rate of advanced histology varied by institution from 1.7 % to 9.3 % (median: 4.3 %, standard deviation [SD]: 2.5 %). The rate of HGD ranged from 0 % to 3.3 % (median: 1 %, SD: 1.2 %), while the rate of villous architecture varied from 1 % to 8 % (median: 3.7 %, SD: 2.5 %). In a multivariate analysis, the factor most strongly associated with advanced histology was polyp size >1 cm with an odds ratio (OR) of 31.82 (95 % confidence interval [CI]: 20.52-50.25, p < 0.05). Inter-institutional differences in the rate of polyps >1 cm likely explain some of the diagnostic variance, but pathologic subjectivity may be another contributing factor.
Topics: Humans; Adenomatous Polyps; Middle Aged; Male; Female; Colorectal Neoplasms; Aged; Colonoscopy; Colonic Polyps; Adult; United States; Risk Factors
PubMed: 38733674
DOI: 10.1016/j.anndiagpath.2024.152323 -
Japanese Journal of Clinical Oncology Aug 2023Attenuated familial adenomatous polyposis, which accounts for ~10% of familial adenomatous polyposis, is difficult to diagnose because of its milder course and later...
Attenuated familial adenomatous polyposis, which accounts for ~10% of familial adenomatous polyposis, is difficult to diagnose because of its milder course and later onset. In both familial adenomatous polyposis and attenuated familial adenomatous polyposis, duodenal cancer is usually recognized 10-20 years after the diagnosis of colonic polyposis. We present herein a 66-year-old man who received pancreaticoduodenectomy due to ampullary carcinoma 17 years before onset of colonic polyposis. He then received extended right hemicolectoy for ascending colon cancer and ⁓100 polyps located from ceacum to splenic flexure of colon 2 years ago. The patient received Adenomatous polyposis coli (APC) genetic testing and detected a germline pathogenic frameshift variant in the APC gene (NM_000038.6:c.4875delA, ClinVar variant ID (127299)). The variant is classified as likely pathogenic according to the American College of Medical Genetics and Genomics guidelines. APC genetic testing was subsequently performed on his younger children (30 and 26 year old) and they found a same frameshift variant as his father. They were not detected any colonic polyposis by colonoscopy. This is a rare case report of attenuated familial adenomatous polyposis that diagnosed with gastric and colon polyposis >10 years after the diagnosis of ampullary carcinoma and the first report of genetic diagnosis of an attenuated familial adenomatous polyposis variant in young relatives before the onset of the disease.
PubMed: 37325944
DOI: 10.1093/jjco/hyad065 -
Endoscopy Mar 2024Cold snare polypectomy (CSP) is safer than and equally efficacious as hot snare polypectomy (HSP) for the removal of small (<10mm) colorectal polyps. The maximum polyp...
BACKGROUND
Cold snare polypectomy (CSP) is safer than and equally efficacious as hot snare polypectomy (HSP) for the removal of small (<10mm) colorectal polyps. The maximum polyp size that can be effectively managed by piecemeal CSP (p-CSP) without an excessive burden of recurrence is unknown.
METHODS
Resection error risks (RERs), defined as the estimated likelihood of incomplete removal of adenomatous tissue for a single snare resection pass, for CSP and HSP were calculated, based on an incomplete resection rate. Polyp area, snare size, estimated number of resections, and optimal resection defect area were modeled. Overall risk of incomplete resection (RIR) was defined as RIR=1 - (1 - p), where p is the RER and n the number of resections.
RESULTS
A 40-mm polyp has a four times greater area than a 20-mm polyp (314.16mm vs. 1256.64mm), and requires three times more resections (11 vs. 33, respectively, assuming 8-mm piecemeal resection pieces for p-CSP). RIRs for a 40-mm polyp by HSP and p-CSP were 15.1%-23% and 40.74%-60.60% respectively.
CONCLUSION
RER is more important with p-CSP than with HSP. The number of resections, n, and consequently RIR increases with increasing polyp size. Given the overwhelming safety of CSP, specific techniques to minimize the RER should be studied and developed.
Topics: Humans; Colonic Polyps; Colonoscopy; Adenoma; Electrocoagulation; Colorectal Neoplasms
PubMed: 37774737
DOI: 10.1055/a-2184-1609 -
Endocrine, Metabolic & Immune Disorders... Dec 2023Single Nucleotide Polymorphisms (SNPs) are used as drug susceptibility biomarkers in metabolic diseases. Alterations in the gene encoding triggers the enzyme flavin...
INTRODUCTION
Single Nucleotide Polymorphisms (SNPs) are used as drug susceptibility biomarkers in metabolic diseases. Alterations in the gene encoding triggers the enzyme flavin monooxygenase 3 (FMO3), involved in the Sulindac metabolization, which also is responsible for the inherited metabolic disorder. Trimethylaminuria (TMAu, OMIM: 602079). DPYD gene variants are associated with the enzyme dihydropyrimidine dehydrogenase deficiency (DPD; OMIM: 274270). This autosomal recessive metabolic disorder, ultimately leads to the inability to metabolize fluoropyrimidines, which causes severe toxicity in individuals treated with these drugs.
METHODS
Variants in genes responsible for the expression of enzymes that encode transporters or receptors involved in the metabolization pathways of certain drugs may condition the individuals response to certain drugs, compromising the therapeutic response and clinical prognosis. Thus the sequencing and identification of variants become relevant, not only gain knowledge on effects of these variants' on disease causality but also in terms of its side effects resulting from the coding enzymes responsible for drug metabolization.
RESULTS
It was found that patients with the c.472G>A (p.Glu158Lys) and c.923A>G (p.Glu308Gly) polymorphisms, in homozygosity, in FMO3 gene did not develop polyps, thus have a protective effect in the treatment of Familial Adenomatous Polyposis (PAF). However, in the case of the DPYD gene, c.1905+1G>A (IVS14+1G>A), c.1679T>G (p.Ile560Ser), c.2846A>T (p.Asp949Val) e c.1236G>A/HapB3 variants can be lethal in cancer patients indicated for fluoropyrimidine-based chemotherapy.
CONCLUSION
Knowledge on the drug mechanisms will affect the therapeutic response of patients treated with a given drug. Thus, pharmacogenetics is an essential tool in personalized medicine, since molecular studies allows the clinician to predict the probability of efficacy and toxicity of certain drugs, resulting higher efficiency in individualizing treatment and also improving the safety of the patient. From a personalized medicine perspective, the study of the characteristics of the drug and its metabolization site, the genes involved in the encoding of enzymes responsible for its metabolization will be of great interest.
PubMed: 38111112
DOI: 10.2174/0118715303271934231211085226