Hereditary or Not? Understanding Serrated Polyposis Syndrome

Stanich, Peter P.; Pearlman, Rachel

doi:10.1007/s11938-019-00256-z

Cited by 6 publications

(5 citation statements)

References 51 publications

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“…Their clinical management is thus conducted based on their family history. Important efforts have been made to identify new high or moderate penetrance genes that explain the familial aggregation, early ages of onset, or polyposis phenotypes observed in those families or individuals, but the success achieved has been minimal [3][4][5].…”

Section: Introductionmentioning

confidence: 99%

Non-Lynch Familial and Early-Onset Colorectal Cancer Explained by Accumulation of Low-Risk Genetic Variants

Mur

Bonifaci

Díez-Villanueva

et al. 2021

Cancers

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A large proportion of familial and/or early-onset cancer patients do not carry pathogenic variants in known cancer predisposing genes. We aimed to assess the contribution of previously validated low-risk colorectal cancer (CRC) alleles to familial/early-onset CRC (fCRC) and to serrated polyposis. We estimated the association of CRC with a 92-variant-based weighted polygenic risk score (wPRS) using 417 fCRC patients, 80 serrated polyposis patients, 1077 hospital-based incident CRC patients, and 1642 controls. The mean wPRS was significantly higher in fCRC than in controls or sporadic CRC patients. fCRC patients in the highest (20th) wPRS quantile were at four-fold greater CRC risk than those in the middle quantile (10th). Compared to low-wPRS fCRC, a higher number of high-wPRS fCRC patients had developed multiple primary CRCs, had CRC family history, and were diagnosed at age ≥50. No association with wPRS was observed for serrated polyposis. In conclusion, a relevant proportion of mismatch repair (MMR)-proficient fCRC cases might be explained by the accumulation of low-risk CRC alleles. Validation in independent cohorts and development of predictive models that include polygenic risk score (PRS) data and other CRC predisposing factors will determine the implementation of PRS into genetic testing and counselling in familial and early-onset CRC.

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Section: Introductionmentioning

confidence: 99%

Non-Lynch Familial and Early-Onset Colorectal Cancer Explained by Accumulation of Low-Risk Genetic Variants

Mur

Bonifaci

Díez-Villanueva

et al. 2021

Cancers

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“…We added the mRNA sequence of AXIN2 using blood samples, and the function of AXIN2 was deemed to be normal. In addition to germline variants related to adenomatous polyposis, loss-of-function of RNF43 can cause serrated polyposis syndrome [ 21 ]. In the present case, serrated changes were observed in part of the polyps.…”

Section: Discussionmentioning

confidence: 99%

Curative resection via right hemicolectomy and regional lymph node dissection for colonic adenomatous polyposis of unknown etiology with adenocarcinomas localized in the right side of the colon: a case report

Aoyama,

Inoue,

Kagawa

et al. 2024

surg case rep

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Background APC and MUTYH are both well-known colorectal polyposis causative genes. However, 30–50% of colorectal adenomatous polyposis cases are classified as colonic adenomatous polyposis of unknown etiology and lack identifiable pathogenic variants. Although guidelines recommend total proctocolectomy for colonic adenomatous polyposis of unknown etiology with over 100 adenomas, evidence is lacking. This study presents a unique case of localized colonic adenomatous polyposis of unknown etiology with multiple adenocarcinomas, treated with hemicolectomy and regional lymph node dissection. Case presentation The patient was a 72-year-old woman whose colonoscopy revealed numerous polyps and two adenocarcinomas localized in the right side of the colon, with no lesions in the left side. The patient had no family history of polyposis or colorectal cancer. No extracolonic lesions, enlarged lymph nodes, or distant metastases were found. Considering the patient’s age and lesion localization, laparoscopic right hemicolectomy with regional lymph node dissection was performed. Histopathological diagnosis revealed three adenocarcinoma lesions with no lymph node metastasis. The most advanced pathological stage was T2N0M0 Stage I (UICC 8th edition). The patient was alive 5 years postoperatively, without recurrence of cancer or polyposis in the remaining colon and rectum. To diagnose hereditary colorectal cancer/polyposis, a germline multigene panel testing for APC, EPCAM, MBD4, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, and TP53 was performed using DNA extracted from blood samples: however, no pathogenic variant was detected. Therefore, the patient was diagnosed with colonic adenomatous polyposis of unknown etiology. Conclusions In this rare case, colonic adenomatous polyposis of unknown etiology, with numerous adenomatous polyps and multiple adenocarcinomas localized in the right side of the colon, was successfully treated with right hemicolectomy and regional lymph node dissection. Despite genetic analysis, no causative germline variants were identified. Segmental colectomy according to the distribution of polyps might be a curative approach.

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“…Часть случаев ЗП носят семейный характер. Примерно треть больных ЗП отмечают наличие как минимум 1 родственника I степени родства с раком толстой кишки (РТК) и лишь 5 % -родственника I степени родства с ЗП [28]. На сегодняшний день только ген RNF43 определен как потенциальный ген-кандидат, обусловливающий развитие наследственного варианта ЗП, однако и герминальные мутации в указанном гене ответственны за развитие только 2 % случаев ЗП [29][30][31].…”

Section: зубчатый полипозunclassified

“…В большинстве случаев ЗП диагностируется на 5-м или 6-м десятилетии жизни, однако описаны и более ранние формы [28]. Оба пола вовлекаются с равнозначной частотой [27,32].…”

Section: зубчатый полипозunclassified

Endoscopic criteria and promising biomarkers for serrated adenomas of the colon (literature review)

Карасев

Строганова

Малихова

et al. 2022

Onkol. koloproktol.

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Colorectal cancer (CRC) is one of the leading causes of death from cancer in many countries of the world, both in men and women, and these rates are on the rise. The probability of suffering from CRC is about 4–5 % and the risk for developing CRC is associated with personal features or habits such as age, chronic disease history and lifestyle, but in most cases colorectal cancer develops as a result of the degeneration of adenomatous formations or along the jagged path. Immune dysregulation, dysbiosis, and epithelial destruction contribute to colorectal cancer carcinogenesis. The gut microbiota has a relevant role, and dysbiosis situations can induce colonic carcinogenesis through a chronic inflammation mechanism. Some of the bacteria responsible for this multiphase process include Fusobacterium spp., Bacteroides fragilis and enteropathogenic Escherichia coli. moreover, CRC is caused by mutations that target oncogenes, tumour suppressor genes and genes related to DNA repair mechanisms.Considering that the average time for the development of adenocarcinoma from precancer takes about 10 years, changes in the microbiota can be a prospective marker for screening precancerous conditions of the colon, as well as the detection of changes in DNA.The work will discuss the relationship between changes in the microbial composition of the colon with the genetic mutations identified by molecular genetic sequencing.

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Hereditary or Not? Understanding Serrated Polyposis Syndrome

Cited by 6 publications

References 51 publications

Non-Lynch Familial and Early-Onset Colorectal Cancer Explained by Accumulation of Low-Risk Genetic Variants

Non-Lynch Familial and Early-Onset Colorectal Cancer Explained by Accumulation of Low-Risk Genetic Variants

Curative resection via right hemicolectomy and regional lymph node dissection for colonic adenomatous polyposis of unknown etiology with adenocarcinomas localized in the right side of the colon: a case report

Endoscopic criteria and promising biomarkers for serrated adenomas of the colon (literature review)

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