The principle goals of polyposis management are first to manage and treat the presenting patient and then to identify atrisk patients, through screening and predictive genetic testing, endoscopic surveillance to allow therapy and guide surgical prophylaxis. Familial adenomatous polyposis fap is an inherited disorder characterized by cancer of the large intestine colon and rectum. There is abundant clinical and pathological evidence, which suggests that colorectal cancer develops in a sequential manner through a series of events that can be followed during the progression of the disease from early adenoma through to metastatic disease. Download gardners syndrome familial adenomatous polyposis. Familial adenomatous polyposis fap and other polyposis. Familial adenomatous polyposis fap is the most common and best characterized of the polyposis syndromes. These usually begin appearing before age 20, but the term juvenile refers to the type of polyp i. Other adenomatous polyposis syndromes st marks hospital. Genetic testing is now available for all of the gi polyposis syndromes and can be readily accessed through. A variety of clinical features manifest, including prolapse of a polyp or entire rectum, gastrointestinal bleeding, anaemia, and intussusception.
Pdf hamartomatous polyposis syndromes researchgate. Practical management of polyposis syndromes frontline. Hereditary bowel tumours are usually part of a distinct syndrome which require management of both intestinal and extraintestinal disease. Oldfields syndrome apc colonic polyposis in association with sebaceous cysts turcots syndrome apc malignant tumors of the central nervous system in association with polyposis of the colon syndromes with preexisting hamartomatous polyps peutzjeghers syndrome lkb1stk11 abnormal pigmentation on the lips and buccal mucosa. As the name suggests, a variety of polyps may occur. The clinical importance of the syndromes relates to their inheritance as well as to their benign and malignant manifestations. The genetic basis of colonic adenomatous polyposis syndromes. The polyposis syndromes have been categorized according to polyp histology and clinical phenotype. Early diagnosis is important as affected patients and atrisk family members should be offered surveillance from an early age.
Familial adenomatous polyposis genetic and rare diseases. Your family history and diagnostic tests for genetic mutations are valuable tools that your healthcare team can use to assess your personal risk for developing a particular type of cancer. Familial adenomatous polyposis genetics home reference nih. Peutzjeghers syndrome is also called intestinal polyposis cutaneous pigmentation syndrome. Familial adenomatous polyposis an overview sciencedirect. The clinical manifestations and diagnosis of other hamartomatous polyposis syndromes eg, peutzjeghers syndrome, cowden syndrome, and bannayanrileyruvalcaba syndrome and adenomatous polyposis syndromes eg, familial adenomatous polyposis and mutyhassociated polyposis are discussed in detail, separately. Turcot syndrome genetic and rare diseases information. Miriam juarez, eva hernandezillan, oscar murcia, maria rodriguezsoler. Although there are other rare syndromes associated with colorectal cancer risk, in the interests of clarity this guideline is restricted to discussion of hereditary non polyposis colorectal cancer hnpcc, familial adenomatous polyposis fap, juvenile polyposis jp, and peutzjeghers syndrome. Peutzjegherssyndrome pjs, hereditary mixed polyposis syndrome hmps and pten hamartoma tumour. Familial adenomatous polyposis is an inherited condition caused by a mutation on chromosome 5. Genetic testing for lynch syndromecolorectal cancer and polyposis syndromes payment policy page 2 ii. Early detection and accurate classification of these syndromes are essential, in order to initiate a surveillance program for the early detection of cancer. Genetic testing is now available for all of the gi polyposis syndromes.
Nevertheless, gastric polyps, particularly when profuse, should prompt further clinical and endoscopic investigation, as it may lead to the diagnosis of a polyposis syndrome. It may be associated with familial adenomatous polyposis fap or lynch syndrome also known as hereditary non. Identification and characterization of these syndromes requires a multidisciplinary effort involving oncologists, surgeons, genetic counselors, and pathologists. This information provides pathologists guidance for further patient workup, genetic testing, and cancer surveillance. American society for gastrointestinal endoscopy guideline on. Colonic polyposis syndromes testing algorithm adenomatous polyps patients clinical andor family history is suggestive of a speci. Serrated polyps are a type of growth that stick out from the surface of the colon or rectum. Several polyposis syndromes have been described, each having its own genetic basis and characteristic polyp distribution, clinical presentation, and malignancy risk. Intestinal polyposis syndromes diagnosisandcw258932020 adobe acrobat reader dc download adobe acrobat reader dc ebook pdf. The polyposis syndromes are disorders in which more than 100 gastrointestinal polyps are present throughout the gi tract. Overlap of juvenile polyposis syndrome and cowden syndrome. Polyposis syndromes can also be classified into those with predominantly adenomatous polyps and those with hamartomatous polyps. Management of individuals with polyposis syndromes and atrisk family members within organized registries reduces mortality.
Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q. Update on colorectal polyps and polyposis syndromes. Gastric polyps show significant morphologic overlap, and some polyps defy classification altogether. Gastrointestinal polyposis syndromes current molecular medicine, 2007, vol. However, adenomatous polyposis may also be due to recessive mutyh associated polyposis map or an increasing number of other conditions, such as polymerase proofreadingassociated polyposis. Hereditary mixed polyposis syndrome hmps is a hereditary condition that is associated with an increased risk of developing polyps in the digestive tract, most commonly in the colon andor rectum. Genetic testing and management of hereditary gastrointestinal.
Hyperplastic polyposis syndrome and risk of colorectal. Other syndromes such as gorlin syndrome and multiple endocrine neoplasia syndrome 2b. Individuals with juvenile polyposis may have hundreds of polyps, and pathologic determination of polyp type is necessary to confirm the diagnosis before genetic testing is offered. Disclosure honorarium ad hoc consulting for invitae. Familial adenomatous polyposis fap is an inherited condition that causes cancer of the large intestine colon and rectum.
Syndromic gastric polyposis and hereditary gastric cancers. Mar 16, 2017 herein an update on the genetic basis of fap and other adenomatous polyposis syndromes map, nap and ppap is discussed. Juvenile polyposis syndrome is an autosomal dominant genetic condition characterized by the appearance of multiple juvenile polyps in the gastrointestinal tract. As such, the pathologist plays an instrumental role in the care of patients with colon polyps. Miriam juarez, eva hernandezillan, oscar murcia, maria rodriguez soler. Hereditary mixed polyposis syndrome hmps is a syndrome in which patients present with multiple colorectal polyps of different histopathological types adenomatous, hyperplastic and hamartomatous, with an autosomal dominant pattern of inheritance, but not fulfilling diagnostic criteria for any of the other polyposis syndromes. Indications for surgery for serrated polyposis syndrome sps include an inability to control the growth of serrated polyps, or the development of. Read about serrated polyposis syndrome sps, formerly hyperplastic polyposis syndrome, in which serrated polyps are found in the colon andor rectum, learn more about sps and it symptoms, diagnosis, causes and management. The accurate diagnosis of these polyps forms a key component of clinical care, both in determining the malignant potential and thus the followup interval for colonoscopy as well as raising suspicion for polyposis syndromes. Uncovering the genetic background of these four cancer traits provides the possibility for genetic testing of the family members of an affected patient. Polymerase proofreading associated polyposis ppap the. Jul 16, 2019 adenomatous polyposis syndromes familial adenomatous polyposis, due to mutation in the apc gene, was the first adenomatous polyposis syndrome described.
Hyperplastic polyposis syndrome is a widely accepted, but poorly understood, risk factor for colorectal cancer. Juvenile polyposis syndrome is a rare autosomal dominant disorder in children characterized by multiple polyps in the gastrointestinal tract. Jan, 2014 colorectal polyps are frequently encountered in daily pathology practice. In anatomy, a polyp is an abnormal growth of tissue projecting from a mucous membrane. Turcot syndrome is a condition characterized by multiple adenomatous colon polyps, an increased risk of colorectal cancer, and an increased risk of brain cancer. Gastrointestinal polyposis syndromes aretz institute of human genetics bonn gastrointestinal polyposis syndromes lugano, 26. It also gives an update on other adenomatous polyposis syndromes. Download fulltext pdf familial adenomatous polyposis and other polyposis syndromes article pdf available in journal of medical genetics 3212 december 1995 with 15 reads. Pdf familial adenomatous polyposis and other polyposis. Gastric polyps and polyposis syndromes sciencedirect. He was initially diagnosed with juvenile polyposis syndrome jps at age four after presenting with hematochezia due to multiple colonic juvenile polyps. Intestinalpolyposissyndromesdiagnosisandcw258932020.
Learn more about the syndromes associated with hereditary cancer with the myriad myrisk test. The main focus will be on familial adenomatous polyposis as it serves as a model disease and is the most extensively studied of all of the polyposis syndromes. This is when a person forms numerous polyps within the colon and elsewhere within the gi tract. Familial adenomatous polyposis fapattenuated fap afap background and molecular genetics. Colonic polyps and polyposis syndromes in pediatric patients. These polyps can predispose patients to complications ranging from bleeding to bowel obstruction to neoplastic transformation. The diagnosis is based on what the doctor sees during a colonoscopy an endoscopic evaluation of the colon and rectum.
Read online gardners syndrome familial adenomatous polyposis. Mutyh polyposis myh polyposis hamartomatous polyposis syndromes peutzjeghers syndrome juvenile polyposis pten hamartoma tumor syndromes cowdens disease bannayanruvalcabariley syndrome rare hamartomatous polyposis syndromes hereditary mixed polyposis syndrome intestinal ganglioneuromatosis and neurofibromatosis devon family syndrome basal. The diagnosis is confirmed by a pathologist who looks at the polyps under a microscope. Colonic phenotypes may differ in fap, afap, and map, and therefore genetic testing and counseling are warranted. Sps is a rare condition that is characterized by serrated polyps in the colon andor rectum. Colorectal polyps and polyposis syndromes pubmed central pmc. Familial adenomatous polyposis, mutyhassociated polyposis, serrated polyposis syndrome, peutzjeghers syndrome, juvenile polyposis syndrome and ptenhamartomatous syndromes. If it is attached to the surface by a narrow elongated stalk, it is said to be pedunculated. Juvenile polyposis syndrome jps is an autosomal dominant condition characterized by multiple hamartomatous polyps throughout the gastrointestinal tract. This article is from orphanet journal of rare diseases, volume 9. Jul 15, 2014 hamartomatous polyposis syndromes hps are rare genetic syndromes characterized by the development of hamartomatous polyps in the gastrointestinal tract and an increased risk of cancer. It is an inherited or sporadic condition characterized by.
Polyps are small growths that develop on the inner lining of the gut. Polyps are abnormal growths arising from a mucous membrane. Classified on the basis of the histological type of polyp and the clinical presentation most are associated with increased risk of colon cancer 3. There are several different types, and some can develop into cancer. Request pdf hereditary or sporadic polyposis syndromes polyposis syndromes are encountered in endoscopy practice, and are considered rare entities, accounting for. Multiple genes can be associated with a single cancer.
A polyp is a growth of normal tissue that forms a lump. This condition if left unmanaged promptly leads to fatal complications including the. Hereditary adenomatous polyposis syndromes encompass groups of individuals at high risk for crc and extracolonic malignancies. Lynch syndrome mlh1, msh2, msh6, and pms2 genes familial adenomatous polyposis syndrome apc gene muthymyhassociated polyposis syndrome patients clinical andor family. There are multiple hereditary and nonhereditary polyposis syndromes that were originally categorized as adenomatous or.
Hereditary colonic polyposis syndromes kory jasperson, ms, cgc huntsman cancer institute park city pathology course 2015. Intestinal polyps polyposis syndromes familial adenomatous polyposis hamartomatous polyposis syndromes. The pathology of hereditary polyposis syndromes novelli. Abstract hamartomatous polyposis syndromes hps are genetic syndromes, which include peutzjeghers syndrome, juvenile polyposis syndrome, pten hamartoma tumour syndrome cowden syndrom, bannayanrileyruvalcaba and proteus syndrome as well as hereditary mixed polyposis syndrome. Individuals with jps are at increased risk for colorectal and gastric cancer 1,2. Intestinal polyps and polyposis syndromes springerlink. Guidance on gastrointestinal surveillance for hereditary. With acrobat reader dc you can do more than just open and view pdf files its easy to add annotations to documents using a complete set of commenting tools take your pdf tools to go work on documents anywhere using the acrobat. Juvenile polyposis syndrome in a young girl from northern. Approximately 2% of all colon cancer is thought to be caused by an adenomatous polyposis condition. Hamartomatous polyposis syndromes hps are genetic syndromes, which include peutzjeghers syndrome, juvenile polyposis syndrome, pten hamartoma tumour syndrome cowden syndrom, bannayanrileyruvalcaba and proteus syndrome as well as hereditary mixed polyposis syndrome.
The genetic causes of two hereditary colorectal cancer syndromes, familial adenomatous polyposis fap and hereditary nonpolyposis colorectal cancer hnpcc have been identified. Polyposis syndromes recognized tobelong to general disorder of fapinclude gardners syndrome. Genetic analysis has demonstrated phenotypic overlap between some of these syndromes, such that their nosology is rapidly becoming based on genetics with clinicopathological features playing a. All books are in clear copy here, and all files are secure so dont worry about it. Meticulous colonoscopy technique, with dye spray, polyp count and biopsy is important in clinical diagnosis. People with the classic type of fap usually develop hundreds to thousands of noncancerous benign polyps growths in the colon as early as their teenage years. From this table there are two genetic entities familial adenomatous polyposis coli and hereditary non polyposis colorectal cancer which predispose persons to an extremely high risk of developing crc at a young age.
Colorectal cancer sporadic 70% familial 25% lynch 24% fapmap polyposis syndromes hps are rare genetic syndromes characterized by the development of hamartomatous polyps in the gastrointestinal tract and an increased risk of cancer. Familial adenomatous polyposis fap and its variant phenotypic syndromes, attenuated fap afap, gardners syndrome, and turcots. Familial adenomatous polyposis fap is the most common polyposis syndrome and is associated with approximately 0. Gastrointestinal inherited polyposis syndromes modern. Fap is an autosomal dominant syndrome in which gastric polyps, particularly fundic gland polyps fgp are reported with an increased frequency. Although rare, some of the less commonly reported syndromes including polyposis syndrome, also confer a markedly increased risk for development of gastric cancer. Summary of polyposis syndromes affecting the gastric mucosa. In afap, there is proximal colon predominance with a later onset than fap. Hereditary gastrointestinal polyposis syndromes account for approximately 1% of all cases of colorectal cancer and are associated with a broad spectrum of extracolonic tumors. They may also occur elsewhere in the body where there are.
Gastrointestinal inherited polyposis syndromes modern pathology. Polyposis syndromes are a group of inherited conditions which cause people to develop numerous bowel polyps, as well as other features. Polyposis syndromes yamada s textbook of gastroenterology. Foreach of these syndromes, we outline diagnostic criteria and indications. They appear sporadically or as part of hereditary hamartomatous polyposis syndromes hps, characterized by. Juvenile polyposis is a rare autosomal dominant condition defined by five or more histologically discrete juvenile polyps see fig.
Polyposis syndromes textbook of gastroenterology wiley. Gardner syndrome gscharacterized by colonic adenomatous polyposis osteomas. Soft tissue tumours like epidermoid cysts,fibromas, desmoid tumors. Differential diagnoses include other disorders causing multiple polyps peutz. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous benign growths polyps in the colon as early as their teenage years. Diagnostic modalities and treatment options for neoplastic polypsas well as the most prevalent polyposis syndromes. Herein an update on the genetic basis of fap and other adenomatous polyposis syndromes map, nap and ppap is discussed.
Polyps are commonly found in the colon, stomach, nose, ear, sinuses, urinary bladder, and uterus. Presence of synchronous or metachronous crc or other lynch syndrome related cancer, regardless of age. The three autosomal dominant inherited polyposis syndromes, familial adenomatous polyposis, juvenile polyposis, and peutzjeghers polyposis predispose to colorectal cancer as does hereditary non polyposis colorectal cancer syndrome. Serrated polyposis syndrome sps was formerly called hyperplastic polyposis syndrome. Familial adenomatous polyposis and associated polyps familial adenomatous polyposis fap is an autosomal dominant disease caused by mutations in the adenomatous polyposis coli. Pdf colorectal polyps and polyposis syndromes researchgate. These syndromes include, in particular, the following inherited polyposes syndromes. Children with polyposis syndromes such as peutzjeghers syndrome, juvenile polyposis syndrome, and familial adenomatous polyposis are at risk of developing polyps in the small bowel. Hereditary or sporadic polyposis syndromes request pdf. Genetic testing for lynch syndromecolorectal cancer and. Jun 25, 20 polyposis syndromes recognized tobelong to general disorder of fapinclude gardners syndrome. Definition gi polyposis refers to the presence of numerous polypoid lesions throughout the gi tract. Managing patients with adenomatous polyposis syndromes. Hereditary gastrointestinal polyposis syndromes account for approximately 1% of all cases of colorectal cancer and are associated.
The presence of a systemic process that promotes the development of multiple gastrointestinal polyps is termed polyposis. Introduction to polyposis syndromes st marks hospital. Unless the colon is removed, these polyps will become malignant cancerous. It is possible to change the outcome for patients who have adenomatous polyposis syndromes. Furthermore, some syndromes can overlap which can additionally complicate diagnosis. Nov 26, 2014 familial adenomatous polyposis fap is an inherited condition that causes cancer of the large intestine colon and rectum. Current status of familial gastrointestinal polyposis syndromes. Firstdegree relative with a lynch syndrome related cancer, with one of the cancers being diagnosed before the age of 50. These include the very rare polymerase proofreading associated polyposis ppap syndromes and patients who grow adenomatous polyps but where we cannot find a genetic cause. Adenomatous and serrated polyposis syndromes diagnostic.
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