Annals of Coloproctology

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Review

Malignant disease,Colorectal cancer,Biomarker & risk factor

Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer: Jin Cheon Kim, Walter F. Bodmer; Ann Coloproctol. 2021;37(6):368-381. Published online December 22, 2021; DOI: https://doi.org/10.3393/ac.2021.00878.0125

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The genomic causes and clinical manifestations of hereditary colorectal cancer (HCRC) might be stratified into 2 groups, namely, familial (FCRC) and a limited sense of HCRC, respectively. Otherwise, FCRC is canonically classified into 2 major categories; Lynch syndrome (LS) or associated spectra and inherited polyposis syndrome. By contrast, despite an increasing body of genotypic and phenotypic traits, some FCRC cannot be clearly differentiated as definitively single type, and the situation has become more complex as additional causative genes have been discovered. This review provides an overview of HCRC, including 6 LS or associated spectra and 8 inherited polyposis syndromes, according to molecular pathogenesis. Variants and newly-identified FCRC are particularly emphasized, including MUTYH (or MYH)-associated polyposis, Muir-Torre syndrome, constitutional mismatch repair deficiency, EPCAM-associated LS, polymerase proofreading-associated polyposis, RNF43- or NTHL1-associated serrated polyposis syndrome, PTEN hamartoma tumor syndrome, and hereditary mixed polyposis syndrome. We also comment on the clinical utility of multigene panel tests, focusing on comprehensive cancer panels that include HCRC. Finally, HCRC surveillance strategies are recommended, based on revised or notable concepts underpinned by competent validation and clinical implications, and favoring major guidelines. As hereditary syndromes are mainly attributable to genomic constitutions of distinctive ancestral groups, an integrative national HCRC registry and guideline is an urgent priority.

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Molecular Basis of Adenomatous Gastrointestinal Polyposis Syndromes: Role of Pathogenic and Benign Variants in Disease Onset
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Case Report

Regression of Colonic Adenomas After Treatment With Sulindac in Familial Adenomatous Polyposis: A Case With a 2-Year Follow-up Without a Prophylactic Colectomy: Kyu Young Kim, Seong Woo Jeon, Jung Gil Park, Chung Hoon Yu, Se Young Jang, Jae Kwang Lee, Hee Young Hwang; Ann Coloproctol. 2014;30(4):201-204. Published online August 26, 2014; DOI: https://doi.org/10.3393/ac.2014.30.4.201

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9 Web of Science
9 Citations

Abstract PDF

Familial adenomatous polyposis (FAP) is an autosomal dominant disorder characterized by hundreds of colorectal adenomatous polyps that progress to colorectal cancer. Management of patients with FAP is with a total colectomy. Chemopreventive strategies have been studied in FAP patients in an effort to delay the development of adenomas in the upper and the lower gastrointestinal tract and to prevent recurrence of adenomas in the retained rectum of patients after prophylactic surgery. Sulindac, a nonsteroidal anti-inflammatory drug, causes regression of colorectal adenomas in the retained rectal segment of FAP patients. However, evidence regarding long-term use of this therapy and its effect on the intact colon has been insufficient. We report a case in which the long-term use of sulindac was effective in reducing the size and the number of colonic polyps in patients with FAP without a prophylactic colectomy and polypectomy; we also present a review of the literature.

Citations

Citations to this article as recorded by

Emerging Strategies for Drug-Based Cancer Risk Reduction
Maria Daca-Álvarez, Angelo Brunori, Alessio Carbone, Chantelle Carbonell, Catherine M. Tangen, Joseph M. Unger, M. Scott Lucia, Martino Oliva, Andrea De Censi, Darren R. Brenner, Ian M. Thompson, Francesc Balaguer
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Maria Daca-Álvarez, Andrew Latchford, Maria Pellisé, Francesc Balaguer
Familial Cancer.2025;[Epub] CrossRef
Sulindac sulfide suppresses oncogenic transformation through let-7b-mediated repression of K-Ras signaling
Zhipin Liang, Ruixia Ma, Bin Yi, Adam I. Riker, Yaguang Xi
Cell Death Discovery.2025;[Epub] CrossRef
Surgical Decision-Making in Familial Adenomatous Polyposis
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Clinics in Colon and Rectal Surgery.2024; 37(03): 191. CrossRef
Chemoprevention in hereditary digestive neoplasia: A comprehensive review
Eugénie Chevalier, Robert Benamouzig
Therapeutic Advances in Gastroenterology.2023;[Epub] CrossRef
Cancer-preventive Properties of an Anthocyanin-enriched Sweet Potato in the APCMIN Mouse Model
Khalid Asadi, Lynnette R. Ferguson, Martin Philpott, Nishi Karunasinghe
Journal of Cancer Prevention.2017; 22(3): 135. CrossRef
Endogenous conversion of ω-6 to ω-3 polyunsaturated fatty acids infat-1 mice attenuated intestinal polyposis by either inhibiting COX-2/β-catenin signaling or activating 15-PGDH/IL-18
Young-Min Han, Jong-Min Park, Ji-Young Cha, Migyeong Jeong, Eun-Jin Go, Ki Baik Hahm
International Journal of Cancer.2016; 138(9): 2247. CrossRef
NOSH-sulindac (AVT-18A) is a novel nitric oxide- and hydrogen sulfide-releasing hybrid that is gastrointestinal safe and has potent anti-inflammatory, analgesic, antipyretic, anti-platelet, and anti-cancer properties
Khosrow Kashfi, Mitali Chattopadhyay, Ravinder Kodela
Redox Biology.2015; 6: 287. CrossRef
Sulindac

Reactions Weekly.2015; 1570(1): 198. CrossRef

Original Article

Clinicopathological Analysis of Suspicious Attenuated Adenomatous Polyposis Coli.: Lee, Dong Hee , Ahn, Byeong Yul , Jeong, Choon Sik , Kim, Hee Cheol , Yu, Chang Sik , Yang, Suk Kyun , Min, Young Il , Kang, Kyung Hoon , Kim, Jin cheon; J Korean Soc Coloproctol. 1999;15(5):417-426.

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Abstract PDF: Familial adenomatous polyposis (FAP) is an inherited autosomal dominant syndrome caused by germ-line mutations of the adenomatous polyposis coli (APC) gene. Clinical diagnosis of familial adenomatous polyposis is usually based on the presence of >100 colonic adenomas, which, if left untreated, progress to colorectal cancer, typically at age under 40 years. Attenuated adenomatous polyposis coli is a variant of familial adenomatous polyposis and also has been described as "hereditary flat adenoma syndrome". Attenuated adenomatous polyposis coli is recognized by the occurrence of <100 (> or =5 or > or =10) colonic adenomas. It is tend to be located proximal to splenic flexure and a later onset of colorectal carcinoma than familial adenomatous polyposis. PURPOSE: This study was performed to analyze the clinicopathologic features of suspicious attenuated adenomatous polyposis coli, to document the occurrence of colorectal carcinoma, and to assess the definition of attenuated adenomatous polyposis coli.
METHODS
From June 1989 to June 1998, we reviewed 773 cases of colonic adenomas and compared with three groups (Group I, II, III) at Asan Medical Center. Median follow-up period was 16.4 months (range, 1 to 102 months).
RESULTS
The incidence of suspicious attenuated adenomatous polyposis coli (Group II) was 4.9%. The most common symptom was anal bleeding (36.9%). Median size and number of adenomas were 1.0 cm (0.2 to 7.5 cm), 2 (1 to 43), respectively.Location of adenoma was prevalent at right colon in Group II (P<0.05). In respect to the occurrence of carcinoma in situ (CIS), it was more frequently presented in Group II (13.5%) and Group III (13.6%) whereas 4.1% in Group I (P<0.05). Recurrence rates within 12 months after polypectomy or surgery in Group II was 13.5% whereas 5.6% in Group I (P<0.05).
CONCLUSIONS
Histopathology revealed suspicious attenuated adenomatous polyposis coli with villous component to be relatively correlated with occurrence of colorectal carcinoma. In suspicious attenuated adenomatous polyposis coli (Group II), the interval of the recurrence of the polyps was shorter than the control group with right colonic predominancy. These findings might be associated with genetic codominance of APC gene or other mutator genes.

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