Cancer Risk in Patients With and Relatives of Serrated Polyposis Syndrome and Sporadic Sessile Serrated Lesions

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Priyanka Kanth ◽  
Zhe Yu ◽  
Megan B. Keener ◽  
Cathryn Koptiuch ◽  
Wendy K. Kohlmann ◽  
...  
Keyword(s):  
Cancer Risk ◽  
Polyposis Syndrome ◽  
Serrated Lesions

Extracolonic cancer risk in patients with serrated polyposis syndrome and their first-degree relatives

2013 ◽  
Vol 12 (4) ◽  
pp. 669-673 ◽  
Author(s):  
Yark Hazewinkel ◽  
Johannes B. Reitsma ◽  
Fokko M. Nagengast ◽  
Hans F. Vasen ◽  
Theo A. M. van Os ◽  
...  
Keyword(s):  
Cancer Risk ◽  
Polyposis Syndrome ◽  
First Degree Relatives ◽  
Extracolonic Cancer

scholarly journals Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome

Gut ◽  
2010 ◽  
Vol 59 (9) ◽  
pp. 1222-1225 ◽  
Author(s):  
K. S. Boparai ◽  
J. B. Reitsma ◽  
V. Lemmens ◽  
T. A. M. van Os ◽  
E. M. H. Mathus-Vliegen ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Risk ◽  
Colorectal Cancer Risk ◽  
Polyposis Syndrome ◽  
First Degree Relatives ◽  
Hyperplastic Polyposis

Polyposis Syndromes

2020 ◽  
Author(s):  
Katherine A Kelley ◽  
Daniel O Herzig
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Cancer Risk ◽  
Future Research ◽  
Molecular Characteristics ◽  
Inherited Disorders ◽  
Polyposis Syndrome ◽  
Screening Guidelines ◽  
Increased Risk ◽  
Polyposis Syndromes

Colorectal cancer (CRC) is the third most common type of cancer and the second leading cause of cancer death in men and women. Although about one third of cancers arise in patients with a family history of CRC, only 5% arise in the setting of mendelian-inherited disorders. Patients without a family history but with a significant polyp burden (> 20 polyps) should be considered to have polyposis syndrome. The field of polyposis syndromes continues to advance, based on new genetic discoveries that define the genetic etiologies of polyposis syndromes. When considered in relation to an individual’s phenotype, these discoveries help guide screening and treatment based on the cancer risk created by specific mutations. Patients with polyposis syndromes carry an increased risk of CRC and some other extracolonic cancers. Future research will provide additional insight into the cause of polyposis syndromes without a currently detectable gene defect and will improve early identification and cancer prevention in affected individuals. Identification of additional molecular characteristics may lead to a more personalized approach to treatment for these individuals. This review contains 7 figures, 11 tables and 52 references. Key words: attenuated familial polyposis, colorectal cancer risk, familial adenomatous polyposis, hamartomatous polyposis syndrome, juvenile polyposis syndrome, MUTYH-associated polyposis, Peutz-Jeghers syndrome, polyposis syndromes, screening guidelines, serrated polyposis syndrome  

Polyposis Syndromes

2020 ◽  
Author(s):  
Katherine A Kelley ◽  
Daniel O Herzig
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Cancer Risk ◽  
Future Research ◽  
Molecular Characteristics ◽  
Inherited Disorders ◽  
Polyposis Syndrome ◽  
Screening Guidelines ◽  
Increased Risk ◽  
Polyposis Syndromes

Colorectal cancer (CRC) is the third most common type of cancer and the second leading cause of cancer death in men and women. Although about one third of cancers arise in patients with a family history of CRC, only 5% arise in the setting of mendelian-inherited disorders. Patients without a family history but with a significant polyp burden (> 20 polyps) should be considered to have polyposis syndrome. The field of polyposis syndromes continues to advance, based on new genetic discoveries that define the genetic etiologies of polyposis syndromes. When considered in relation to an individual’s phenotype, these discoveries help guide screening and treatment based on the cancer risk created by specific mutations. Patients with polyposis syndromes carry an increased risk of CRC and some other extracolonic cancers. Future research will provide additional insight into the cause of polyposis syndromes without a currently detectable gene defect and will improve early identification and cancer prevention in affected individuals. Identification of additional molecular characteristics may lead to a more personalized approach to treatment for these individuals. This review contains 7 figures, 11 tables and 52 references. Key words: attenuated familial polyposis, colorectal cancer risk, familial adenomatous polyposis, hamartomatous polyposis syndrome, juvenile polyposis syndrome, MUTYH-associated polyposis, Peutz-Jeghers syndrome, polyposis syndromes, screening guidelines, serrated polyposis syndrome  

scholarly journals A Rare Case of Serrated Polyposis Syndrome with the MSH6 and SMARCA4 variants

2021 ◽  
Author(s):  
Mahesh Nepal ◽  
Sravani Lokineni ◽  
Le Yu Naing ◽  
Jay Bapaye ◽  
Erik Olson
Keyword(s):  
Colorectal Cancer ◽  
Adenomatous Polyposis Coli ◽  
Rare Case ◽  
Adenomatous Polyposis ◽  
Polyposis Coli ◽  
Genetic Pathway ◽  
Polyposis Syndrome ◽  
Serrated Lesions ◽  
Map Kinase Pathway ◽  
Kinase Pathway

Serrated polyposis syndrome (SPS) is the most common form of polyposis syndrome and has been shown to increase the risk of colorectal cancer (CRC). The genetic pathway of CRC in SPS is different from the classic adenomatous polyposis coli (APC) pathway, which accounts for 70–80% of cases of CRC. Most commonly, SPS mutations include BRAF and KRAS, with activation of the RAS-RAF-MAP kinase pathway involved in the pathogenesis of serrated lesions. We present a rare case of SPS in a 32-year-old woman with MSH6 and SMARCA4 variants, which have not previously been reported in the literature.

Colorectal cancer risk factors in patients with serrated polyposis syndrome: a large multicentre study

Gut ◽  
2015 ◽  
Vol 65 (11) ◽  
pp. 1829-1837 ◽  
Author(s):  
Sabela Carballal ◽  
Daniel Rodríguez-Alcalde ◽  
Leticia Moreira ◽  
Luis Hernández ◽  
Lorena Rodríguez ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Risk Factors ◽  
Cancer Risk ◽  
Multicentre Study ◽  
Colorectal Cancer Risk ◽  
Polyposis Syndrome ◽  
Cancer Risk Factors ◽  
Large Multicentre Study

High incidence of advanced colorectal neoplasia during endoscopic surveillance in serrated polyposis syndrome

Endoscopy ◽  
2018 ◽  
Vol 51 (02) ◽  
pp. 142-151 ◽  
Author(s):  
Daniel Rodríguez-Alcalde ◽  
Sabela Carballal ◽  
Leticia Moreira ◽  
Luis Hernández ◽  
Lorena Rodríguez-Alonso ◽  
...  
Keyword(s):  
Cumulative Incidence ◽  
Colorectal Neoplasia ◽  
Endoscopic Surveillance ◽  
Advanced Adenoma ◽  
Polyposis Syndrome ◽  
Advanced Neoplasia ◽  
Increased Risk ◽  
Substantial Risk ◽  
Serrated Lesions ◽  
Serrated Lesion

Abstract Background Serrated polyposis syndrome (SPS) has been associated with an increased risk of colorectal cancer (CRC). Accordingly, intensive surveillance with annual colonoscopy is advised. The aim of this multicenter study was to describe the risk of advanced lesions in SPS patients undergoing surveillance, and to identify risk factors that could guide the prevention strategy. Methods From March 2013 to April 2015, 296 patients who fulfilled criteria I and/or III for SPS were retrospectively recruited at 18 centers. We selected patients in whom successful clearing colonoscopy had been performed and who underwent subsequent endoscopic surveillance. Advanced neoplasia was defined as CRC, advanced adenoma, or advanced serrated lesion that were ≥ 10 mm and/or with dysplasia. Cumulative incidence of advanced neoplasia was calculated and independent predictors of advanced neoplasia development were identified. Results In 152 SPS patients a total of 315 surveillance colonoscopies were performed (median 2, range 1 – 7). The 3-year cumulative incidence of CRC and advanced neoplasia were 3.1 % (95 % confidence interval [CI] 0 – 6.9) and 42.0 % (95 %CI 32.4 – 51.7), respectively. Fulfilling both I + III criteria and the presence of advanced serrated lesions at baseline colonoscopy were independent predictors of advanced neoplasia development (odds ratio [OR] 1.85, 95 %CI 1.03 – 3.33, P  = 0.04 and OR 2.62, 95 %CI 1.18 – 5.81, P  = 0.02, respectively). During follow-up, nine patients (5.9 %) were referred for surgery for invasive CRC (n = 4, 2.6 %) or because of polyp burden (n = 5, 3.3 %). After total colectomy, 17.9 % patients developed advanced neoplasia in the retained rectum. Conclusions Patients with SPS have a substantial risk of developing advanced neoplasia under endoscopic surveillance, whereas CRC incidence is low. Personalized endoscopic surveillance based on polyp burden and advanced serrated histology could help to optimize prevention in patients with SPS.

Risk of cancer in 10 – 19 mm endoscopically detected colorectal lesions

Endoscopy ◽  
2019 ◽  
Vol 51 (05) ◽  
pp. 452-457 ◽  
Author(s):  
Nasim Parsa ◽  
Prasanna Ponugoti ◽  
Heather Broadley ◽  
Jonathan Garcia ◽  
Douglas K. Rex
Keyword(s):  
Cancer Risk ◽  
Low Risk ◽  
Control Group ◽  
Serrated Lesions ◽  
Low Volume ◽  
Cancerous Lesions ◽  
Risk Of Cancer ◽  
Prevalence Of Cancer

Abstract Background Recent data indicate that the risk of cancer in colorectal lesions < 10 mm is lower than previously reported, possibly reflecting improved detection of flat, low-volume lesions with a low risk of cancer. Few studies have examined the prevalence of cancer in colorectal lesions 10 – 19 mm in size. Methods We reviewed a prospectively collected database of all colorectal lesions removed at a single endoscopy center in order to identify lesions of 10 – 19 mm in size and review their histology. Lesions ≥ 20 mm were evaluated as a control group. We reviewed photographs of cancerous lesions to determine the frequency of endoscopic features of cancer. Results A total of 5093 lesions ≥ 10 mm were removed from 4020 patients (mean age 63.2 years, 34.4 % female). Among 3068 lesions 10 – 19 mm in size, 28 (0.9 %) had adenocarcinoma, including 1.2 % of conventional adenomas and 0.3 % of serrated class lesions. These rates were lower than the 6.9 % and 2.0 % rates of cancer found in conventional adenomatous lesions and serrated lesions ≥ 20 mm, respectively. Cancer was suggested by endoscopic features in 52.0 % of malignancies 10 – 19 mm in size compared with 79.2 % of lesions ≥ 20 mm. Conclusions The prevalence of cancer in 10 – 19 mm colorectal lesions was much lower than previously reported. The cancer risk was higher in conventional adenomas than in serrated lesions. Cancer was endoscopically evident prior to resection in slightly more than half of colorectal lesions 10 – 19 mm in size.

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