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Serrated Polyposis Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Serrated polyposis syndrome (SPS) is a genetic disorder characterized by the formation of a heterogeneous group of serrated lesions including HP (75%), SSP/A (up to 25%), and TSA (<1%) in the colon. Despite their common occurrence, HP show limited malignant potential. In contrast, SSP/A and occasionally TSA tend to undergo malignant transformation through the serrated pathway, which involves an activating mutation in BRAF or KRAS oncogenes and RNF43 tumor suppressor gene followed by epigenetic hypermethylation of CpG islands within promoter regions of tumor suppressor genes, leading to serrated adenocarcinomas (colorectal cancer). Compared to other colorectal cancer predisposition syndromes, SPS is noted for its capacity to pose a much higher cancer risk, with up to 70% of patients developing colorectal cancer during their lifetime, and 32% of first-degree relatives developing multiple serrated polyps as well as colon cancer. Early diagnosis, appropriate treatment, and regular surveillance represent the current measures for the management of SPS and help improve the quality of life for SPS patients.
Hereditary Colorectal Cancer
Published in Peter Sagar, Andrew G. Hill, Charles H. Knowles, Stefan Post, Willem A. Bemelman, Patricia L. Roberts, Susan Galandiuk, John R.T. Monson, Michael R.B. Keighley, Norman S. Williams, Keighley & Williams’ Surgery of the Anus, Rectum and Colon, 2019
Patients undergo colonoscopy for a variety of reasons, including screening, surveillance (follow-up of a neoplasm) and symptoms. Findings that suggest a hereditary syndrome include an advanced neoplasm in a young patient (age 40) and multiple polyps that may be synchronous (>10 adenomas, >5 juvenile polyps, >2 hamartomas) or metachronous (>20 adenomas) (Table 42.3). Grover et al. used data from genetic testing laboratory to show that patients with 10–19 adenomas in their colon had risks of attenuated familial adenomatous polyposis (AFAP) of 5% and MYH-associated polyposis (MAP) of 4%. With 20–100 adenomas, the risks of carrying a germline mutation of either APC or MYH approximately doubled.5 Ten or more synchronous adenomas or >20 cumulative adenomas are therefore valid indications for germline genetic testing. Similarly the presence of multiple hamartomas suggests that genetic testing is indicated.6 Multiple serrated polyps indicate Serrated Polyposis Syndrome (SPS), and because of the phenotypic overlap of syndromes, panel testing is indicated. 7
Randomized, back-to-back trial of a new generation NBI with a high-definition white light (HQ290) for detecting colorectal polyps
Published in Scandinavian Journal of Gastroenterology, 2019
Haewon Kim, Hyeon Jeong Goong, Bong Min Ko, Yu Sik Myung, Yun Ho Jung, Seong Ran Jeon, Hyun Gun Kim, Moon Sung Lee
In line with a previous study, we found that flat-type polyps were less likely to be missed when using the 290-NBI system. A recent study of NBI using a high-definition 180 series colonoscope versus a white light system, performed on 52 patients with serrated polyposis syndrome, showed that the miss rate for the white light system was 29%, compared to 20% for NBI [19]. Flat-type polyps are more difficult to detect, and are easily missed if inadequate time is spent looking for them or an incomplete endoscopic technique is used. According to our data, the 290-NBI system could be more effective to detect flat-type polyps than the conventional HDWL system. This finding is probably related to the brighter images produced by the new generation NBI. As shown in Figure 2, the enhanced capillary and pit patterns of colonic mucosa facilitated detection of flat-type polyps during colonoscopy.
Oral indigo carmine for the detection of colon adenoma
Published in Scandinavian Journal of Gastroenterology, 2021
Koki Kawanishi, Takao Maekita, Yoshifumi Ikeda, Masahiko Furotani, Sayaka Tsuboi, Takayuki Kanno, Toru Niwa, Tsunehiro Nagaoka, Yoshinari Tabata, Keiichi Hatamaru, Mikitaka Iguchi, Masayuki Kitano
Both AGA and ESGE guidelines recommend that endoscopists should apply indigo carmine by dye-spray catheter for patients with inflammatory bowel disease, lynch syndrome, and serrated polyposis syndrome [8,10]. Oral indigo carmine represents an alternative to dye-spray catheter that results in shorter endoscopy time as no time is spent spraying.