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Journal of Pediatric Gastroenterology... Sep 2019Gastrointestinal polyps are mucosal overgrowths that, if unchecked, can undergo malignant transformation. Although relatively uncommon in the pediatric age group, they... (Review)
Review
Gastrointestinal polyps are mucosal overgrowths that, if unchecked, can undergo malignant transformation. Although relatively uncommon in the pediatric age group, they can be the harbingers of multiorgan cancer risk and require close management and follow-up. Additionally, as many polyposis syndromes are inherited, appropriate genetic testing and management of relatives is vital for the health of the entire family. In this review, we discuss both common and uncommon childhood gastrointestinal polyposis syndromes in terms of clinical presentation, management, and surveillance. We also detail any additional malignancy risk and surveillance required in the pediatric age group (<21 years old). Through this review, we provide a framework for gastroenterologists to manage the multifaceted nature of pediatric polyposis syndromes.
Topics: Adenomatous Polyposis Coli; Adolescent; Child; Gastrointestinal Neoplasms; Genetic Counseling; Genetic Predisposition to Disease; Genetic Testing; Humans; Peutz-Jeghers Syndrome; Practice Guidelines as Topic
PubMed: 31211762
DOI: 10.1097/MPG.0000000000002421 -
Pediatric Surgery International Apr 2020Polyps in gastrointestinal tract are mostly benign and result from hamartomas or lymphoid hyperplasia of submucosa. They usually occur as isolated lesions in children... (Review)
Review
Polyps in gastrointestinal tract are mostly benign and result from hamartomas or lymphoid hyperplasia of submucosa. They usually occur as isolated lesions in children and are referred to as juvenile polyps. Multiple polyps with inherited origin are called polyposis and can be seen as a part of the syndrome. The polyps with adenomatous histopathology have malignant potential and necessitate genetic testing and colonoscopy to define the risk of cancer. Although simple endoscopic removal is adequate in the treatment of juvenile polyps, children with familial adenomatous polyposis (FAP) need total colectomy with ileorectal anastomosis (IRA) or ileal pouch-anal anastomosis (IPAA). The timing of prophylactic colectomy and the type of surgical treatment are controversial in children. The clinical features, the assessment of cancer risk, and the alternatives of the surgical treatment of polyps are reviewed in this paper.
Topics: Adenomatous Polyposis Coli; Child; Colectomy; Humans; Proctocolectomy, Restorative; Rectum
PubMed: 31965250
DOI: 10.1007/s00383-020-04621-3 -
Best Practice & Research. Clinical... 2022Juvenile polyposis syndrome (JPS) is a rare precancerous condition that confers an increased risk of developing gastrointestinal cancers. The inheritance pattern is... (Review)
Review
Juvenile polyposis syndrome (JPS) is a rare precancerous condition that confers an increased risk of developing gastrointestinal cancers. The inheritance pattern is autosomal dominant. JPS should be clinically suspected when the other hamartomatous polyposis syndromes are excluded (i.e., Peutz- Jeghers and Cowden), in presence of numerous juvenile polyps in the colorectum or in other GI locations. Among the syndromic features, JPS can present with concomitant extra-intestinal manifestations, above all cutaneous manifestations such as telangiectasia, pigmented nevi, and skeletal stigmata. Pathogenic germline variants of either BMPR1A or SMAD4 cause the syndrome. In JPS a cumulative risk of CRC of 39-68% has been estimated. The oncological risk justifies and imposes prevention strategies that aim at the cancer risk reduction through endoscopic screening, as recommended by international scientific societies. The aim of this review is to summarize clinical and genetic features of JPS and to elucidate the steps of the clinical management from diagnosis to surveillance.
Topics: Colorectal Neoplasms; Gastrointestinal Neoplasms; Humans; Intestinal Polyposis; Neoplastic Syndromes, Hereditary; Peutz-Jeghers Syndrome
PubMed: 35988962
DOI: 10.1016/j.bpg.2022.101799 -
Genes Dec 2022Cancer is one of the most common causes of death worldwide. A strong predisposition to cancer is generally only observed in colorectal cancer (5% of cases) and breast... (Review)
Review
Cancer is one of the most common causes of death worldwide. A strong predisposition to cancer is generally only observed in colorectal cancer (5% of cases) and breast cancer (2% of cases). Colorectal cancer is the most common cancer with a strong genetic predisposition, but it includes dozens of various syndromes. This group includes familial adenomatous polyposis, attenuated familial adenomatous polyposis, -associated polyposis, -associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, Lynch syndrome, and Muir-Torre syndrome. The common symptom of all these diseases is a very high risk of colorectal cancer, but depending on the condition, their course is different in terms of age and range of cancer occurrence. The rate of cancer development is determined by its conditioning genes, too. Hereditary predispositions to cancer of the intestine are a group of symptoms of heterogeneous diseases, and their proper diagnosis is crucial for the appropriate management of patients and their successful treatment. Mutations of specific genes cause strong colorectal cancer predispositions. Identifying mutations of predisposing genes will support proper diagnosis and application of appropriate screening programs to avoid malignant neoplasm.
Topics: Humans; Genetic Predisposition to Disease; Adenomatous Polyposis Coli; Neoplastic Syndromes, Hereditary; Colorectal Neoplasms; Colorectal Neoplasms, Hereditary Nonpolyposis
PubMed: 36553592
DOI: 10.3390/genes13122326 -
Surgical Oncology Clinics of North... Apr 2022Approximately 5% of all colorectal cancers develop within a hereditary colorectal cancer syndrome. Patients and families with these syndromes have an increased risk of... (Review)
Review
Approximately 5% of all colorectal cancers develop within a hereditary colorectal cancer syndrome. Patients and families with these syndromes have an increased risk of colorectal and extracolonic cancers that develop at an early age. Recognition and diagnosis of these conditions are crucial to management and risk reduction. Surgeons must be aware of the unique aspects of the timing and extent of surgery (both therapeutic and prophylactic) within these syndromes, particularly for the most common syndromes, Lynch syndrome and familial adenomatous polyposis.
Topics: Adenomatous Polyposis Coli; Colorectal Neoplasms; Colorectal Neoplasms, Hereditary Nonpolyposis; Humans; Neoplastic Syndromes, Hereditary
PubMed: 35351280
DOI: 10.1016/j.soc.2021.11.010 -
The Application of Clinical Genetics 2021Hereditary polyposis syndromes are characterized by a large number and/or histopathologically specific polyps in the gastrointestinal tract and a high risk of both... (Review)
Review
Hereditary polyposis syndromes are characterized by a large number and/or histopathologically specific polyps in the gastrointestinal tract and a high risk of both colorectal cancer and extracolonic cancer at an early age. While the genes responsible for some of the syndromes, eg, in familial adenomatous polyposis and in Peutz-Jeghers syndrome, have been known for decades, novel genetic causes have recently been detected that have shed light on the broader clinical spectrum of syndromes. Genetic diagnoses are important because they can facilitate a personalized surveillance program. Furthermore, at-risk members of the patient's family can be tested and enrolled in surveillance as needed. In some cases, prenatal diagnostics should be offered. In this paper, we describe the development in germline genetics of the hereditary polyposis syndromes over the last 10-12 years, their clinical characteristics, as well as how to implement genetic analyses in the diagnostic pipeline.
PubMed: 34866929
DOI: 10.2147/TACG.S295157 -
Gastrointestinal Endoscopy Clinics of... Jan 2022The goal of this review is to provide an overview of evaluating patients with adenomatous polyposis of the colon, including elements such as generating a differential... (Review)
Review
The goal of this review is to provide an overview of evaluating patients with adenomatous polyposis of the colon, including elements such as generating a differential diagnosis, referral considerations for genetic testing, genetic testing options, and expected outcomes from genetic testing in these individuals. In more recent years, adenomatous colonic polyposis has evolved beyond the more robustly characterized familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) now encompassing more newly described genes and associated syndromes. Technological innovation, from whole-exome sequencing to multigene panel testing, has dramatically increased the amount of genotypic and phenotypic data amassed in adenomatous polyposis cohorts, which has contributed greatly to informing diagnosis and clinical management of affected individuals and their families.
Topics: Adenomatous Polyposis Coli; Colonic Neoplasms; Diagnosis, Differential; Genetic Testing; Humans
PubMed: 34798989
DOI: 10.1016/j.giec.2021.08.003 -
Current Opinion in Gastroenterology Jan 2022The goal of this review is to help providers recognize, diagnose and manage gastrointestinal (GI) polyposis syndromes. (Review)
Review
PURPOSE OF REVIEW
The goal of this review is to help providers recognize, diagnose and manage gastrointestinal (GI) polyposis syndromes.
RECENT FINDINGS
Intestinal polyps include a number of histological sub-types such as adenomas, serrated, hamartomas among others. Over a quarter of individuals undergoing screening colonoscopy are expected to have colonic adenomas. Although it is not uncommon for adults to have a few GI polyps in their lifetime, some individuals are found to have multiple polyps of varying histology throughout the GI tract. In these individuals, depending on polyp histology, number, location and size as well as extra-intestinal features and/or family history, a polyposis syndrome should be considered with appropriate testing and management.
SUMMARY
Diagnosis and management of polyposis syndromes has evolved with advent of multigene panel testing and new data on optimal surveillance strategies. Evidence-based recommendations and current practice guidelines for polyposis syndromes are reviewed here. Areas of uncertainty and future research are also highlighted.
Topics: Adenoma; Adult; Colonic Polyps; Colonoscopy; Colorectal Neoplasms; Humans; Intestinal Polyps; Peutz-Jeghers Syndrome
PubMed: 34839308
DOI: 10.1097/MOG.0000000000000796 -
Internal Medicine (Tokyo, Japan) Sep 2023A 36-year-old man was diagnosed with multiple gastric polyps by esophagogastroduodenoscopy. Subsequent colonoscopy identified two tubular adenomas, and computed...
A 36-year-old man was diagnosed with multiple gastric polyps by esophagogastroduodenoscopy. Subsequent colonoscopy identified two tubular adenomas, and computed tomography revealed subcutaneous tumors. Based on these findings, we suspected that gastric polyposis was associated with the APC gene, either attenuated familial adenomatous polyposis (AFAP) or gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). A genetic analysis demonstrated that he had a frameshift variant at codon 1928 of APC, suggesting AFAP. In this era of less Helicobacter pylori infection and frequent use of proton pump inhibitors, diagnoses of AFAP and GAPPS should be considered in patients with prominent gastric fundic gland polyposis.
Topics: Male; Humans; Adult; Helicobacter Infections; Helicobacter pylori; Adenomatous Polyposis Coli; Stomach Neoplasms
PubMed: 36725040
DOI: 10.2169/internalmedicine.1101-22 -
Best Practice & Research. Clinical... 2022Juvenile polyposis represents an heterogeneous disease as different genetic dominant backgrounds have been evidenced leading to different clinical presentations. It is... (Review)
Review
Juvenile polyposis represents an heterogeneous disease as different genetic dominant backgrounds have been evidenced leading to different clinical presentations. It is associated in some patients with a different syndrome, Hereditary Hemorragic Telangiectasia, justifying a complementary and different management. Recent international recommendations help in managing this very rare disease, and this management should probably be restricted to expert centers able to take care of the multiple manifestations and risks of these patients and families. This paper will focus on the poorly known and evaluated aspects of juvenile polyposis, excluding the colonic involvement and epidemiology that are addressed in a different article of this issue.
Topics: Colon; Humans; Intestinal Polyposis; Neoplastic Syndromes, Hereditary; Smad4 Protein
PubMed: 35988968
DOI: 10.1016/j.bpg.2022.101802