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Current Treatment Options in... Dec 2019To present the current understanding of the diagnosis, management, and potential genetic causes of serrated polyposis syndrome. (Review)
Review
PURPOSE OF REVIEW
To present the current understanding of the diagnosis, management, and potential genetic causes of serrated polyposis syndrome.
RECENT FINDINGS
The clinical criteria for serrated polyposis syndrome was recently updated and now includes individuals with five or more serrated polyps proximal to the rectum that are 5 mm in size or greater and at least two that are 10 mm in size of greater as well as individuals with 20 or more serrated polyps throughout the colon with at least five proximal to the rectum. There is a significant risk for colon cancer in first-degree relatives of individuals with serrated polyposis syndrome. However, less than 3% of serrated polyposis syndrome cases are explained by identifiable germline mutations, with mutations in RNF43 being the only currently validated genetic cause. Serrated polyposis syndrome is rarely explained by identifiable germline mutations, but there remains an increased risk for colorectal cancer in first-degree relatives. Referral for genetic counseling and testing is recommended for individuals with serrated polyposis syndrome and a personal history of coexisting adenomatous polyposis or with a concerning family history and can be considered for all individuals with serrated polyposis syndrome. Close endoscopic surveillance of those with serrated polyposis syndrome and their first-degree relatives is recommended. Continued efforts at identifying hereditary causes of serrated polyposis are needed.
PubMed: 31673925
DOI: 10.1007/s11938-019-00256-z -
Clinics in Colon and Rectal Surgery Dec 2016Familial adenomatous polyposis (FAP) syndromes make up fewer than 1% of patients diagnosed with colorectal cancer each year. Patients with familial polyposis syndromes... (Review)
Review
Familial adenomatous polyposis (FAP) syndromes make up fewer than 1% of patients diagnosed with colorectal cancer each year. Patients with familial polyposis syndromes including FAP, attenuated FAP, and MYH-associated polyposis (MAP), are an important group often cared for by colorectal surgeons. Registry and screening programs have been shown to improve survival in patients with adenomatous polyposis, as it allows patients to undergo surgical intervention prior to the development of colorectal cancer. There are several surgical options for the treatment of colorectal polyps in patients with adenomatous polyposis, so it is important to choose the appropriate procedure for each patient after discussing the risk of cancer in the rectal remnant, as well as bowel and sexual function in a predominantly young patient group. Regardless of procedure choice, long-term follow-up is important with yearly endoscopic evaluation of the pouch or remnant rectum, as well as appropriate screening for extracolonic malignancy. Adenomatous polyposis patients require an intense care regimen, but can have a normal lifespan with good quality when cared for appropriately.
PubMed: 31777463
DOI: 10.1055/s-0036-1584089 -
Chirurgie (Heidelberg, Germany) May 2023Hereditary colorectal cancer (hCRC) represents a major diagnostic and therapeutic challenge. In addition to the usual diagnostic methods, the family history,... (Review)
Review
Hereditary colorectal cancer (hCRC) represents a major diagnostic and therapeutic challenge. In addition to the usual diagnostic methods, the family history, histological confirmation and mutation analysis play an important role in identifying the type of hereditary CRC. The diagnosis and classification of hCRC are carried out based on the anamnesis, clinical presentation and histology and the further treatment is determined depending on the underlying type of hCRC. For familial adenomatous polyposis (FAP) coloproctomucosectomy after the end of puberty is always recommended, whereas the treatment recommendations for other forms, such as attenuated FAP (aFAP), MUTYH-associated polyposis (MAP) and hereditary nonpolyposis colon cancer (HNPCC, Lynch syndrome), range from close surveillance and endoscopic control, through segmental resection up to colectomy. Irrespective of the type of hCRC, the treatment regimens necessitate an individualized approach and require close interdisciplinary cooperation. When colorectal resection is performed, minimally invasive procedures should principally be prioritized and some studies could demonstrate a potential benefit of robotic surgery compared to laparoscopy.
Topics: Humans; Adenomatous Polyposis Coli; Colorectal Neoplasms, Hereditary Nonpolyposis; Laparoscopy; Colectomy; Robotic Surgical Procedures
PubMed: 36856815
DOI: 10.1007/s00104-023-01823-y -
Clinics in Colon and Rectal Surgery Nov 2023The pathogenesis, clinical phenotype, treatment strategy, and family management of hereditary tumor syndromes are different from those of sporadic tumors. Nearly a... (Review)
Review
The pathogenesis, clinical phenotype, treatment strategy, and family management of hereditary tumor syndromes are different from those of sporadic tumors. Nearly a quarter of patients with colorectal cancer show significant familial aggregation and genetic predisposition, and 5 to 10% are associated with definite genetic factors. According to the clinical phenotype, it can be divided into nonpolyposis syndrome and polyposis syndrome. Among the polyposis syndrome patients with definite clinical symptoms, there are still some patients with unknown etiology (especially attenuated familial adenomatous polyposis), which is a difficult problem in clinical diagnosis and treatment. Therefore, for this rare disease, it is urgent to carry out multicenter studies, complete the gene variation spectrum, explore new pathogenic factors, and accumulate clinical experience. This article mainly introduces the research progress and related work of colorectal polyposis syndrome in China.
PubMed: 37795462
DOI: 10.1055/s-0043-1767708 -
The American Journal of Gastroenterology Oct 2017Colorectal cancer (CRC) is the fourth most common cancer amongst men and women. Between 3 and 6% of all CRCs are attributed to well-defined inherited syndromes,... (Review)
Review
Colorectal cancer (CRC) is the fourth most common cancer amongst men and women. Between 3 and 6% of all CRCs are attributed to well-defined inherited syndromes, including Lynch syndrome, familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), and several hamartomatous polyposis conditions. Identification of these patients through family history and appropriate genetic testing can provide estimates of cancer risk that inform appropriate cancer screening, surveillance and/or preventative interventions. This narrative review examines the hereditary colorectal cancer and polyposis syndromes, their genetic basis, clinical management, and evidence supporting cancer screening.
Topics: Adenomatous Polyposis Coli; Colorectal Neoplasms, Hereditary Nonpolyposis; Disease Management; Early Detection of Cancer; Genetic Predisposition to Disease; Genetic Testing; Humans; Medical History Taking
PubMed: 28786406
DOI: 10.1038/ajg.2017.212 -
Gastrointestinal Endoscopy Clinics of... Jan 2022Familial adenomatous polyposis (FAP) is the development of many adenomatous colorectal polyps. Colonoscopy is recommended to start at age 10 to 12 years at intervals of... (Review)
Review
Familial adenomatous polyposis (FAP) is the development of many adenomatous colorectal polyps. Colonoscopy is recommended to start at age 10 to 12 years at intervals of 1 to 2 years. Colectomy is clearly indicated for malignancy or significant colorectal symptoms. After colectomy, endoscopic surveillance is still critical. Duodenal and gastric polyposis is also found in almost all patients with FAP. Screening with upper endoscopy and ampullary visualization is recommended, generally determined by age and staging of duodenal polyposis, but guidelines are increasingly factoring in ampullary and gastric manifestations. Surgical management of malignancy or advanced upper tract manifestations is needed.
Topics: Adenomatous Polyposis Coli; Child; Colectomy; Duodenum; Endoscopy; Humans; Stomach Neoplasms
PubMed: 34798980
DOI: 10.1016/j.giec.2021.08.007 -
Familial Cancer Jan 2023Biallelic MSH3 germline variants are a rare cause of adenomatous polyposis as yet reported in two small families only. We describe the phenotype of a third family, the...
Biallelic MSH3 germline variants are a rare cause of adenomatous polyposis as yet reported in two small families only. We describe the phenotype of a third family, the largest thus far, with adenomatous polyposis related to compound heterozygous MSH3 pathogenic variants. The index patient was a 55-years old male diagnosed with rectal cancer and adenomatous polyposis (cumulatively 52 polyps), with a family history of colorectal polyposis with unknown cause. Next-generation sequencing and copy number variation analysis of a panel of genes associated with colorectal cancer and polyposis revealed compound heterozygous germline pathogenic variants in the MSH3 gene. Nine out of 11 siblings were genotyped. Three siblings carried the same compound heterozygous MSH3 variants. Colonoscopy screening showed predominantly right-sided adenomatous polyposis in all compound heterozygous siblings, with a cumulative number of adenomas ranging from 18 to 54 in an average of four colonoscopies, and age at first adenoma detection ranging from 46 to 59. Microsatellite analysis demonstrated alterations at selected tetranucleotide repeats (EMAST) in DNA retrieved from the rectal adenocarcinoma, colorectal adenomas as well as of normal colonic mucosa. Gastro-duodenoscopy did not reveal adenomas in any of the four patients. Extra-intestinal findings included a ductal adenocarcinoma in ectopic breast tissue in one female sibling at the age of 46, and liver cysts in three affected siblings. None of the three heterozygous or wild type siblings who previously underwent colonoscopy had adenomatous polyposis. We conclude that biallelic variants in MSH3 are a rare cause of attenuated adenomatous polyposis with an onset in middle age.
Topics: Male; Humans; Female; DNA Copy Number Variations; Adenomatous Polyposis Coli; Colorectal Neoplasms; Adenoma; Adenocarcinoma; MutS Homolog 3 Protein
PubMed: 35675019
DOI: 10.1007/s10689-022-00297-x -
The Surgical Clinics of North America Oct 2015Colorectal cancer (CRC) is the third most common cancer and the third leading cause of cancer death in men and women in the United States. About 30% of patients with CRC... (Review)
Review
Colorectal cancer (CRC) is the third most common cancer and the third leading cause of cancer death in men and women in the United States. About 30% of patients with CRC report a family history of CRC. However, only 5% of CRCs arise in the setting of a well-established mendelian inherited disorder. In addition, serrated polyposis is a clinically defined syndrome with multiple serrated polyps in the colorectum and an increased CRC risk for which the genetics are unknown. This article focuses on genetic and clinical aspects of Lynch syndrome, familial adenomatous polyposis, and MUTYH-associated polyposis.
Topics: Adenomatous Polyposis Coli; Biomarkers, Tumor; Colorectal Neoplasms, Hereditary Nonpolyposis; Early Detection of Cancer; Genetic Predisposition to Disease; Humans
PubMed: 26315524
DOI: 10.1016/j.suc.2015.05.004 -
Digestive Diseases (Basel, Switzerland) 2021There are gaps in the literature regarding outcome of multiple polyps and dilemmas in the management issues in polyposis syndromes in children.
INTRODUCTION
There are gaps in the literature regarding outcome of multiple polyps and dilemmas in the management issues in polyposis syndromes in children.
OBJECTIVE
We aimed to study the clinical behaviour of gastrointestinal (GI) polyps with emphasis on therapeutic outcomes of polyposis syndrome.
METHODS
Proven cases of GI polyp(s) on endoscopy were classified as single polyp, multiple polyps, and polyposis syndrome. Complex presentation was defined as 1 or more of the following: severe anaemia, anasarca, intussusception, rectal mucosal prolapse, and diarrhoea. A clinico-endoscopic criterion was applied in polyposis syndrome patients for the decision of surgery versus endoscopic therapy with surveillance.
RESULTS
Of total 240 patients, there were no significant differences between single (52.5%, n = 126) versus multiple polyps (27.5%, n = 66) with respect to age, symptoms, histology, and recurrence. Polyposis syndrome (20%, n = 48) presented with complex symptoms (50%), higher family history, significantly lower haemoglobin, total protein, and albumin as compared to single and multiple polyps (p < 0.01). Nineteen polyposis patients with favourable clinico-endoscopic criteria were endoscopically eradicated for polyps in 3 (1-4) sessions with sustenance of laboratory parameters at 1 year and 30% symptomatic recurrence at follow-up of 23.5 (7-40) months. There were no major endoscopic complications. Nineteen patients required proctocolectomy with improvement in laboratory parameters 6 months post-surgery.
CONCLUSIONS
Multiple polyps behave similar to single polyps in children. A clinico-endoscopic criterion may guide for optimal management of polyposis syndrome. Colectomy may be effectively deferred in a large proportion of polyposis syndrome patients if maintained on an endoscopic protocol.
Topics: Adenomatous Polyposis Coli; Adolescent; Child; Child, Preschool; Endoscopy; Female; Humans; Infant; Male; Polyps; Treatment Outcome
PubMed: 32450557
DOI: 10.1159/000508866 -
Hereditary Cancer in Clinical Practice 2017Colorectal cancer (CRC) is one of the most common forms of cancer worldwide and familial adenomatous polyposis (FAP) accounts for approximately 1% of all CRCs.... (Review)
Review
Colorectal cancer (CRC) is one of the most common forms of cancer worldwide and familial adenomatous polyposis (FAP) accounts for approximately 1% of all CRCs. Adenomatous polyposis syndromes can be divided into; familial adenomatous polyposis (FAP) - classic FAP and attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), NTHL1-associated polyposis (NAP) and polymerase proofreading-associated polyposis (PPAP). The polyposis syndromes genetics and clinical manifestation of disease varies and cases with clinical diagnosis of FAP might molecularly show a different diagnosis. This review examines different aspects of the adenomatous polyposis syndromes genetics and clinical manifestation of disease; in addition the genotype-phenotype and modifier alleles of FAP will be discussed. New technology has made it possible to diagnose some of the mutation negative patients into their respective syndromes. There still remain many molecularly undiagnosed adenomatous polyposis patients indicating that there remain causative genes to be discovered and with today's technology these are expected to be identified in the near future. The knowledge about the role of modifier alleles in FAP will contribute to improved pre-symptomatic diagnosis and treatment. New novel mutations will continually be discovered in genes already associated with disease and new genes will be discovered that are associated with adenomatous polyposis. The search for modifier alleles in FAP should be made a priority.
PubMed: 28331556
DOI: 10.1186/s13053-017-0065-x