Hereditary colorectal cancer is a type of cancer that is caused by a genetic mutation. Individuals with a family history of colorectal cancer, or who have a known hereditary syndrome, are at an increased risk of developing the disease. Screening and surveillance are important tools for managing the risk of hereditary colorectal cancer. Screening involves a combination of tests that can detect precancerous or cancerous changes in the colon and rectum. Surveillance involves regular follow-up examinations to monitor disease progression and to identify new developments. The frequency and type of screening and surveillance tests may vary depending on an individual’s risk factors, genetic profile, and medical history. However, early detection and treatment of hereditary colorectal cancer can significantly improve patient outcomes and reduce mortality rates. By implementing comprehensive screening and surveillance strategies, healthcare providers can help individuals at risk of hereditary colorectal cancer to receive timely interventions and make informed decisions about their health. Specific examples of screening and surveillance tests for hereditary colorectal cancer include colonoscopy, genetic testing, and imaging tests. In this review article, we will discuss detailed screening and surveillance of hereditary colorectal cancer.
Colorectal cancer (CRC) ranks third in cancer incidence and stands as the second leading cause of cancer-related deaths globally. CRC tumorigenesis results from a cumulative set of genetic and epigenetic alterations, disrupting cancer-regulatory processes like cell proliferation, metabolism, angiogenesis, cell death, invasion, and metastasis. Key epigenetic modifications observed in cancers encompass abnormal DNA methylation, atypical histone modifications, and irregularities in noncoding RNAs, such as microRNAs and long noncoding RNAs. The advancement in genomic technologies has positioned these genetic and epigenetic shifts as potential clinical biomarkers for CRC patients. This review concisely covers the fundamental principles of CRC-associated epigenetic changes, and examines in detail their emerging role as biomarkers for early detection, prognosis, and treatment response prediction.
Background/Aims Assessment of quality of magnetic resonance enterography (MRE) in small bowel Crohn’s disease (CD) activity evaluation has received little attention. We assessed the impact of bowel distention and motion artifact on MRE activity indices in ileal CD.
Methods A cohort of patients who underwent contemporaneous MRE and colonoscopy for ileal CD assessment between 2014 and 2021 at 2 centers were audited. An abdominal radiologist blinded to clinical data reviewed each MRE, graded bowel distention and motion artifact upon a pre-specified 3-point scale and calculated the original magnetic resonance index of activity (MaRIA) and simplified MaRIA (sMaRIA), London index and CD MRE index (CDMI). Ileal endoscopic activity was graded via the Simplified Endoscopy Score for CD (SES-CD). The performance of MRE indices in discriminating active disease (SES-CD ≥3) stratified by MRE quality was measured by receiver operator characteristic analyses.
Results One hundred and thirty-seven patients had MRE and colonoscopy within a median of 16 days (range, 0–30 days) with 63 (46%) exhibiting active disease (SES-CD ≥3). Forty-four MREs (32%) were deemed low quality due to motion artifact and/or moderate to poor distention. Low-quality MREs demonstrated reduced discriminative performance between ileal SES-CD ≥3 and MRE indices (MaRIA 0.838 vs. 0.634, sMaRIA 0.834 vs. 0.527, CDMI 0.850 vs. 0.595, London 0.748 vs. 0.511, P<0.05 for all). Individually the presence of any motion artifact markedly impacted the discriminative performance (e.g., sMaRIA area under the curve 0.544 vs. 0.814, P<0.05).
Conclusions Image quality parameters can significantly impact MRE disease activity interpretation. Quality metrics should be reported, enabling cautious interpretation in lower-quality studies.
Citations
Citations to this article as recorded by
Magnetic resonance enterography in diagnosing and monitoring of adult-onset IgA vasculitis (Henoch-Schönlein purpura) with gastro-intestinal involvement: Report of two cases Edoardo Conticini, Susanna Guerrini, Paolo Falsetti, Maria Antonietta Mazzei, Luca Cantarini, Bruno Frediani The Egyptian Rheumatologist.2024; 46(2): 90. CrossRef
Advocating for Consensus: The Crucial Role of Standardised Magnetic Resonance Imaging Protocols and Image Quality Metrics in Assessment of Crohn’s Disease Mustafa Mohamedrashed, Mayur Garg, Anuj Bohra Journal of Crohn's and Colitis.2024; 18(9): 1524. CrossRef
Achieving high-quality magnetic resonance enterography is critical for assessing Crohn’s disease activity Kyoung Doo Song Intestinal Research.2024; 22(2): 117. CrossRef
Background/Aims Association of sarcopenia with disease severity in ulcerative colitis (UC) is not clearly defined. We planned to estimate the prevalence of sarcopenia in patients with UC as per the revised definition and its relation with the disease severity.
Methods A cross-sectional assessment of sarcopenia in patients with UC was performed. Disease activity was graded according to complete Mayo score. Hand grip strength was assessed with Jamar hand dynamometer, muscle mass using a dual energy X-ray absorptiometry scan, and physical performance with 4-m walk test. Sarcopenia was defined as a reduction of both muscle mass and strength. Severe sarcopenia was defined as reduced gait speed in presence of sarcopenia.
Results Of 114 patients (62 males, mean age: 36.49±12.41 years), 32 (28%) were in remission, 46 (40.4%) had mild-moderate activity, and 36 (31.6%) had severe UC. Forty-three patients (37.7%) had probable sarcopenia, 25 (21.9%) had sarcopenia, and 14 (12.2%) had severe sarcopenia. Prevalence of sarcopenia was higher in active disease (2 in remission, 6 in active, and 17 in severe, P<0.001). Of 14 with severe sarcopenia, 13 had severe UC while 1 had moderate UC. On multivariate analysis, lower body mass index and higher Mayo score were associated with sarcopenia. Of 37 patients with acute severe colitis, 16 had sarcopenia. Requirement of second-line therapy was similar between patients with and without sarcopenia. On follow-up (median: 18 months), there was a non-significant higher rate of major adverse events in those with sarcopenia (47.4% vs. 33.8%, P=0.273).
Conclusions Sarcopenia and severe sarcopenia in UC correlate with the disease activity.
Citations
Citations to this article as recorded by
Sarcopenia and frailty in inflammatory bowel disease: Emerging concepts and evidence Pardhu B Neelam, Alka Sharma, Vishal Sharma JGH Open.2024;[Epub] CrossRef
Utility of SARC‐F for screening for sarcopenia in ulcerative colitis Pardhu B. Neelam, Vishal Sharma Nutrition in Clinical Practice.2024; 39(5): 1270. CrossRef
Response to “Utility of SARC‐F for screening for sarcopenia in ulcerative colitis” Ilkay Ergenc, Chasan Ismail Basa, Alper Uzum, Sevval Sahin, Haluk Tarık Kani, Rahmi Aslan, Aslı Tufan, Özgür Kasımay, Özlen Atuğ, Yeşim Özen Alahdab Nutrition in Clinical Practice.2024; 39(5): 1272. CrossRef
Background/Aims Mirikizumab is a p19-directed anti-interleukin-23 antibody with potential efficacy against ulcerative colitis (UC). We evaluated the efficacy and safety of mirikizumab in a Japanese subpopulation with moderately to severely active UC from the LUCENT-1 and LUCENT-2 studies.
Methods LUCENT-1 and LUCENT-2 were phase 3, randomized, double-blind, placebo-controlled trials of mirikizumab therapy in adults with moderately to severely active UC. LUCENT-1 was a 12-week induction trial where patients were randomized 3:1 to receive intravenous mirikizumab 300 mg or placebo every 4 weeks (Q4W). Patients achieving a clinical response with mirikizumab following the induction study were re-randomized 2:1 to double-blind treatment with either mirikizumab 200 mg or placebo subcutaneously Q4W during the 40-week maintenance study. The primary outcomes were clinical remission at week 12 of LUCENT-1 and week 40 of LUCENT-2.
Results A total of 137 patients enrolled in Japan were randomized to mirikizumab (n = 102) or placebo (n = 35). Compared with placebo, patients who received mirikizumab showed numerically higher clinical remission at week 12 of induction (32.4% [n = 33] vs. 2.9% [n = 1]) and at week 40 of maintenance (48.9% [n = 23] vs. 28.0% [n = 7]). A greater number of patients achieved key secondary endpoints in the mirikizumab group compared with placebo. The frequency of treatment-emergent adverse events was similar across mirikizumab and placebo groups. Efficacy and safety results observed in the Japanese subpopulation were generally consistent with those in the overall population.
Conclusions Mirikizumab induction and maintenance treatments were effective in Japanese patients with moderately to severely active UC. No new safety concerns were identified.
Jeongseok Kim, Tae-Geun Gweon, Min Seob Kwak, Su Young Kim, Seong Jung Kim, Hyun Gun Kim, Eun Ran Kim, Sung Noh Hong, Eun Sun Kim, Chang Mo Moon, Dae Seong Myung, Dong Hoon Baek, Shin Ju Oh, Hyun Jung Lee, Ji Young Lee, Yunho Jung, Jaeyoung Chun, Dong-Hoon Yang, on behalf of the Intestinal Tumor Research Group of the Korean Association for the Study of Intestinal Diseases (KASID)
Intest Res 2024;22(2):186-207. Published online April 25, 2024
Background/Aims We investigated the clinical practice patterns of post-polypectomy colonoscopic surveillance among Korean endoscopists.
Methods In a web-based survey conducted between September and November 2021, participants were asked about their preferred surveillance intervals and the patient age at which surveillance was discontinued. Adherence to the recent guidelines of the U.S. Multi-Society Task Force on Colorectal Cancer (USMSTF) was also analyzed.
Results In total, 196 endoscopists completed the survey. The most preferred first surveillance intervals were: a 5-year interval after the removal of 1–2 tubular adenomas < 10 mm; a 3-year interval after the removal of 3–10 tubular adenomas < 10 mm, adenomas ≥ 10 mm, tubulovillous or villous adenomas, ≤ 20 hyperplastic polyps < 10 mm, 1–4 sessile serrated lesions (SSLs) < 10 mm, hyperplastic polyps or SSLs ≥ 10 mm, and traditional serrated adenomas; and a 1-year interval after the removal of adenomas with highgrade dysplasia, >10 adenomas, 5–10 SSLs, and SSLs with dysplasia. In piecemeal resections of large polyps ( > 20 mm), surveillance colonoscopy was mostly preferred after 1 year for adenomas and 6 months for SSLs. The mean USMSTF guideline adherence rate was 30.7%. The largest proportion of respondents (40.8%–55.1%) discontinued the surveillance at the patient age of 80–84 years.
Conclusions A significant discrepancy was observed between the preferred post-polypectomy surveillance intervals and recent international guidelines. Individualized measures are required to increase adherence to the guidelines.
Background/Aims Colorectal cancer (CRC) and colorectal polyps are intimately linked, with polyps acting as precursors to CRC. Understanding the molecular mechanisms governing their development is crucial for advancing diagnosis and treatment. Employing a systems biology approach, we investigated the molecular similarities between polyp and CRC.
Methods We analyzed gene expression profiles, protein-protein interactions, transcription factors, and gene ontology to identify common differentially expressed genes (DEGs) and unravel shared molecular pathways.
Results Our analysis revealed 520 commonly dysregulated genes in polyps and CRC, serving as potential biomarkers and pivotal contributors to disease progression. Gene ontology analysis elucidated distinct biological processes associated with upregulated and downregulated DEGs in both conditions, highlighting common pathways, including signal transduction, cell adhesion, and positive regulation of cell proliferation. Moreover, protein-protein interaction networks shed light on subnetworks involved in rRNA processing, positive regulation of cell proliferation, mRNA splicing, and cell division. Transcription factor analysis identified major regulators and differentially expressed transcription factors in polyp and CRC. Notably, we identified common differentially expressed transcription factors, including ZNF217, NR3C1, KLF5, GATA6, and STAT3, with STAT3 and NR3C1 exhibiting increased expression.
Conclusions This comprehensive analysis enriches our understanding of the molecular mechanisms underlying polyp formation and CRC development, providing potential targets for further investigation and therapeutic intervention. Our findings contribute substantively to crafting personalized strategies for refining the diagnosis and treatment of polyps and CRC.
Citations
Citations to this article as recorded by
Stool Glycoproteomics Signatures of Pre-Cancerous Lesions and Colorectal Cancer Janine Soares, Mariana Eiras, Dylan Ferreira, Daniela A. R. Santos, Marta Relvas-Santos, Beatriz Santos, Martina Gonçalves, Eduardo Ferreira, Renata Vieira, Luís Pedro Afonso, Lúcio Lara Santos, Mário Dinis-Ribeiro, Luís Lima, José Alexandre Ferreira International Journal of Molecular Sciences.2024; 25(7): 3722. CrossRef