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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 -
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 Journal of Allergy and Clinical... Oct 2019
Topics: Cohort Studies; Head and Neck Neoplasms; Humans; Nasal Polyps; Rhinitis; Sinusitis
PubMed: 31472164
DOI: 10.1016/j.jaci.2019.08.015 -
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 -
Expert Review of Gastroenterology &... 2023Hereditary polyposis syndromes are a group of inherited disorders associated with a high risk of developing colorectal cancer. The best known ones are familial... (Review)
Review
INTRODUCTION
Hereditary polyposis syndromes are a group of inherited disorders associated with a high risk of developing colorectal cancer. The best known ones are familial adenomatous polyposis (FAP), Peutz-Jeghers (PJS), juvenile polyposis and Cowden syndromes, as well as conditions predisposing to cancer, such as Lynch syndrome. Some of them are characterized by an increased risk of small bowel polyps occurrence.
AREAS COVERED
Literature search in PubMed was performed in November 2022 and a narrative review was carried out. Since performing small bowel polypectomy is important in such patients, device assisted enteroscopy (DAE) is the key for this procedure. A screening strategy for small bowel polyps is recommended only for PJS. Guidelines endorse either magnetic resonance imaging (MRI) or videocapsule endoscopy (VCE) every 1-3 years, according to the phenotype of the disease. Enteroscopy should be considered for therapeutic purpose in patients with a positive VCE or MRI. DAE has a central role in the resection of polyps larger than mm or causing symptoms of subocclusion or intussusception. Both single (SBE) and double balloon enteroscopy (DBE) are indicated and able to resect polyps up to 6-10 cm. American guidelines have restricted the indications to small bowel enteroscopy only to FAP patients with grade IV Spiegelman.
EXPERT OPINION
Only some groups of patients (PJS, FAP with demonstrated small bowel polyp burden) may benefit from DAE.
Topics: Humans; Peutz-Jeghers Syndrome; Adenomatous Polyposis Coli; Laparoscopy; Capsule Endoscopy; Intestinal Polyps
PubMed: 37515779
DOI: 10.1080/17474124.2023.2242240 -
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 -
Current Opinion in Pediatrics Oct 2021Polyposis syndromes are rare but significant entities that often present during childhood and adolescence. Polyposis syndromes should remain high on the differential... (Review)
Review
PURPOSE OF REVIEW
Polyposis syndromes are rare but significant entities that often present during childhood and adolescence. Polyposis syndromes should remain high on the differential diagnoses for any child presenting with rectal bleeding, protein-losing enteropathy or intussusception in the setting of multiple polyps in the gastrointestinal tract. There are three primary paediatric polyposis syndromes: Juvenile polyposis syndrome (JPS), Familial adenomatous polyposis (FAP) and Peutz-Jeghers syndrome (PJS). This review will cover recent guidelines for these conditions and advances in genetic testing.
RECENT FINDINGS
The first set of paediatric guidelines were released in 2019 by the European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) for FAP, JPS and PJS. Even with advances in genetic testing, a significant proportion of patients with polyposis syndromes have no identifiable genetic mutations. Recent research has shown that polyps behave differently in patients with and without disease-causing variants, emphasizing the role of genetic testing in the diagnosis and management of polyposis syndromes.
SUMMARY
Polyposis syndromes in the paediatric population are growing due to increased recognition and advances in genetic testing. A timely diagnosis and surveillance of a paediatric polyposis syndrome are pivotal for the management of disease burden and early identification of cancers within the gastrointestinal tract and beyond. Paediatricians, paediatric gastroenterologists, paediatric oncologists and paediatric surgeons should be familiar with the presentation and comorbidities of polyposis syndromes in children and adolescents. Further research into genotype-phenotype correlations is needed to tailor the care for paediatric patients with polyposis syndromes.
Topics: Adenomatous Polyposis Coli; Adolescent; Child; Colorectal Neoplasms; Cost of Illness; Humans; Neoplastic Syndromes, Hereditary; Peutz-Jeghers Syndrome
PubMed: 34261898
DOI: 10.1097/MOP.0000000000001044 -
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 -
Chirurgie (Heidelberg, Germany) Nov 2022The continuous development of pouch surgery has enabled continence-preserving treatment after coloproctectomy. The ileoanal J‑pouch is nowadays the standard... (Review)
Review
The continuous development of pouch surgery has enabled continence-preserving treatment after coloproctectomy. The ileoanal J‑pouch is nowadays the standard reconstruction after restorative coloproctectomy with excellent functional long-term results. Taking the relative contraindications and a suitable patient selection into consideration, pouch placement can be indicated not only for ulcerative colitis and familial adenomatous polyposis, but also for patients with nonfistular Crohn's disease. Due to a high treatment density with immunosuppressants, the surgical treatment regimen should be subdivided into a multistage procedure, whereby according to current data a modified two-stage procedure should be favored.
Topics: Humans; Proctocolectomy, Restorative; Colonic Pouches; Adenomatous Polyposis Coli; Colitis, Ulcerative; Immunosuppressive Agents
PubMed: 36036850
DOI: 10.1007/s00104-022-01708-6