The hamartomatous polyposis syndromes are a heterogeneous group of disorders that share an autosomaldominant pattern of inheritance and are. In children, multiple juvenile polyps should raise the possibility of juvenile polyposis syndrome jps. Pathology perspective of colonic polyposis syndromes bc cancer. The cards were retrieved, and patients with juvenile polyps but no hospita1 number were excluded. They are composed of normal cellular elements but have a markedly distorted architecture. Most benign polyps are classified as one of two types. Autosomal dominant disorder with mucocutaneous pigmentation and multiple gi hamartomatous polyps, most common in small intestine due to mutation in stkii lkbi tumor suppressor gene related to tgf. Hamartomatous polyps of the colon archives of pathology. Hamartomatous polyposis syndromes hereditary cancer in. Colorectal polyps and polyposis syndromes gastroenterology. Polyps greater than one centimeter in diameter are associated with a greater risk of cancer. In adults, hamartomatous polyps of the digestive tract are rare as compared to adenomatous or hyperplastic polyps.
Another feature is the excess of edematous lamina propria infiltrated by plasma cells, lymphocytes, eosinophils, mast cells, macrophages, and variable. Juvenile polyps and polyps associated with peutzjeghers syndrome will be addressed in this section. Colonic polyps may be neoplastic eg, adenomas or nonneoplastic eg, inflammatory polyps. As the chance of malignant degeneration of colonic polyps has also been recognized in all hamartomatous polyposis syndromes, screening colonoscopy should be advised for all patients. The risk of malignant change developing in the hamartomatous polyps in peutz. However an association with tumours of the upper gastro.
The prevalence of polyps in the general population is unknown as polyps may be asymptomatic. Gastric polyps are discovered in 6% of upper endoscopies most performed for unrelated reasons presentation. Multiple hamartomatous polyps should alert the pathologist and the clinician of the possibility of a hereditary polypcancer syndrome. There are two obscure hamartomatous polyp syndromes. Genetic alterations and epithelial dysplasia in juvenile polyposis syndrome and sporadic juvenile polyps. Fibrous dysplasia usually manifests as solitary, slowgrowing hamartomatous lesions. Pdf hamartomatous polyposis syndromes researchgate. The pathologic identification of a peutzjeghers polyp is. The classic arborizing histology pattern, seen in the intestinal pjs polyps. In children, multiple juvenile polyps should raise the. May 09, 2007 histopathology colon hyperplastic polyp. Hamartomas are tumourlike malformations, consisting of disorganized normal tissues, typical of the site of tumour manifestation. A polyp of the colon refers to a protuberance into the lumen above the surrounding colonic mucosa. Autosomal dominant disorder 1 per 200,000 with variable penetrance, usually diagnosed at age 20 30 hamartomatous polyps in small bowel 100%, stomach and colon 25% polyps may occur without other features of syndrome, may be associated with enteritis cystica profunda, may cause intussusception and bleeding.
There is an overlap in the morphologic features of various hamartomatous polyps, and molecular genetic testing is essential to establish the definitive diagnosis in the proper clinical context. Repeated fracture of the femur results in the characteristic shepherdscrook deformity at the upper end of the bone. In conclusion, we were able to define the characteristic hamartomatous polyp for each hamartomatous polyposis syndrome. Th e occurrence cancer risk in the jps when the mutation is known in the. Printable gastrointestinal tract juvenile polyp surgical. Since 1958, the histopathology department has re corded al1 polyps diagnosed as juvenile on a card system. A solitary peutzjegherstype hamartomatous polyp of the rectum. Hamartomatous tumors in the gastrointestinal tract fulltext. This is a pdf file of an unedited manuscript that has. Hamartomatous definition of hamartomatous by medical. Polyps in jps can degenerate and the approximate risk of developing crc varies between 38 to 50%, in case of multiple polyps, especially in adults 3,5,11,14. Colon polyps are usually asymptomatic but may ulcerate and bleed, cause tenesmus if in the rectum, and, when very large, produce intestinal obstruction. On histopathology, gastric, duodenal and colonic biopsies revealed hamartomatous polyps showing villi flattening and cystic dilatation of.
Hamartomatous polyps a clinical and molecular genetic. Peutzjeghers syndrome often abbreviated pjs is an autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa. An analysis based on 21 patients with solitary and multiple polyps. Autopsy studies suggest that about 3060% of adults have colonic polyps. Colorectal cancer risk in hamartomatous polyposis syndromes. The hamartomatous polyposis syndromes are a heterogeneous group of disorders that share an autosomaldominant pattern of inheritance and are characterized by hamartomatous polyps of the gastrointestinal tract. Though most of the gastric hamartomatous polyps are benign, certain. Histologically, hyperplastic polyps are characterized by marked elongation of the pits with branching, resulting in a corkscrew appearance or in cystic dilatation of foveolae.
Mar 29, 2020 the malignant potential of hamartomatous polyps is not known and is an important and unresolved issue. Untreated colorectal polyps can develop into colorectal cancer colorectal polyps are often classified by their behaviour i. Current recommendations for screening and surveillance according to recent publications 17, 40, 48, 50, 51 are resumed in table 4. The hamartomatous polyposis syndromes are a heterogeneous group of disorders that share an autosomaldominant pattern of inheritance and are characterized by hamartomatous polyps of the. In addition to cysts, polyps contained deformed oxyntic glands and areas where the formation of secondary irregular glands occurred from cysts and from the existing glands. Ganglioneuromatous, stromal, and lipomatous owen t. Histopathology of serrated adenoma, its variants, and differentiation from conventional adenomatous and hyperplastic polyps.
A benign tumor composed of an abnormal mixture of normal tissue elements that develop and grow at the same rate as adjacent tissue, resulting from faulty. A colorectal polyp is a polyp fleshy growth occurring on the lining of the colon or rectum. They are normally made up of a mixture of tissues, containing mucusfilled glands. Colorectal polyps and carcinoma these presentations are to help you identify, and to test yourself on identifying, basic histopathological features. When to suspect and how to diagnose syndromic polyps and. Jul 15, 2014 hamartomatous polyps are most often diagnosed by endoscopy and symptoms include rectal bleeding, pain, anaemia, prolapsing polyp, diarrhoea andor melena. Hamartomatous polyps a clinical and molecular genetic study. Colorectal polyps are frequently encountered in daily pathology practice.
Oct 09, 2019 fibrous dysplasia usually manifests as solitary, slowgrowing hamartomatous lesions. When pathologists encounter multiple hamartomatous polyps and all have the same histology, it is important to raise the possibility of a hamartomatous polyposis syndrome. Frequently encountered in pathology practice, gastric polyps are defined as luminal projections above the plane of the adjacent mucosa. Gastric polyps are discovered routinely in approximately 14% of gastric endoscopies. Aiming at the prevention of gastrointestinal cancer is a major reason for using endoscopic examination methods. Nguyen, md keywords gastric polyps, stomach polyps, management dr islam and dr patel are gastroenterology fellows at the mayo clinic in scott. The overgrowth of fibrous bone leaves areas of bony weakness, which results in deformity through repetitive minor fractures. They do not contain the additional factual information that you need to learn about these topics, or necessarily all.
Apr 19, 20 peutzjeghers syndrome is an autosomal dominant condition characterized by gastrointestinal hamartomatous polyps. Hamartomatous polyposis including jps is responsible approximately for 1% of all crc 5. They may be sporadic solitary peutzjeghers polyp or solitary juvenile polyp or reveal genetic predisposition like peutzjeghers syndrome, juvenile polyposis or cowden disease. Update on colorectal polyps and polyposis syndromes. As such, the pathologist plays an instrumental role in the care of patients with colon. Hamartomatous polyps of gastrointestinal tract occur sporadically as well as components of genetic or acquired syndromes. Chan, md, phd and parviz haghighi, md from the department of pathology, university of californiasan diego and va medical center, san diego, calif. Adenomatous polyps adenomas of the colon and rectum are benign noncancerous growths, but may be precursor lesions to colorectal cancer. Histological diagnosis of hamartomatous polyps is relatively easy, but it is more difficult to specify the particular type of polyp. Hamartomatous definition of hamartomatous by the free.
When occurring in the syndromic setting, some of them are associated with germline mutations in tumor suppressor genes or oncogenes and carry increased risk of. Histologic examination of the polyps revealed a hamartomatous collection of nerve ganglion and stromal cells in the lamina propria that ensheathed the overlying glands and formed a nodular configuration figure 2, a and b. Histopathologically, this polyp had an arborizing muscular network originating from the muscularis mucosa, and was covered by well organized mucosa with. These can be nonneoplastic, neoplastic or hamartomatous and syndromic. Gastric hamartomatous polyp without polyposis coli. Adenomatous and carcinomatous changes in hamartomatous. Each syndrome exhibits characteristic polyp histology, gastrointestinal polyp distribution. The classification of gastric polyps has important clinical implications and provides targeted clues towards discovering abnormalities in the remaining gastric mucosa or even elsewhere in. In this paper a series of 52 cases of this type of polyp are presented. Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome jps, peutzjeghers syndrome pjs, hereditary mixed polyposis syndrome hmps and pten hamartoma tumour syndrome phts. Diagnosis is based on personal and family history and on clinical data including physical signs in particular dermatological, endoscopic. The glands were elongated, but they did not possess crowded cells with hyperchromatic nuclei typically seen in conventional tubular adenomas. When occurring in the syndromic setting, some of them are associated with germline mutations in tumor suppressor genes or oncogenes and carry increased risk of malignancies.
Diarrhoea, hyperpigmentation and hamartomatous polyposis. Familial manifestation of hamartomatous polyps can be noted in juvenile. All polyps were sessile, sharply demarcated, hemispheric protrusions, measuring up to 10 mm in diameter but most were less than 5 mm. Jeghers syndrome with pseudoinvasion of hamartomatous. The pathologic identification of a peutzjeghers polyp is integral to the. Wu tt, rezai b, rashid a, luce mc, cayouette mc, kim c, sani n, mishra l, moskaluk ca, yardley jh, hamilton sr. These include certain polyps associated with specific genetic familial polyposis syndromes and gastric inverted hamartomatous polyps. Jan 23, 2014 colorectal polyps may be classified by their macroscopic appearance as sessile flat, arising directly from the mucosal layer or pedunculated extending from the mucosa through a fibrovascular stalk. Peutzjeghers syndrome is an autosomal dominant condition characterized by gastrointestinal hamartomatous polyps. Hamartomatous synonyms, hamartomatous pronunciation, hamartomatous translation, english dictionary definition of hamartomatous.
Solitary hamartomatous polyps in the gastrointestinal tract is generally not. They do not contain the additional factual information that you need to learn about these topics, or necessarily all the images from resource sessions. Jan, 2014 colorectal polyps are frequently encountered in daily pathology practice. The malignant potential of hamartomatous polyps is not known and is an important and unresolved issue. There were multiple sessile polyps from caecum to rectum on colonoscopy, largest measuring around 1 x 1 cm in the caecum figure 2. Polyps are most common in the colon but can be found throughout the gi tract and at extraintestinal sites. From the department of pathology, division of surgical pathology. Contribution of the clinical and histopathological features. Hps in the gi tract can be subdivided into different histopathological cat egories based on their histopathological appearance. The number of polyps was fewer than 5 in most patients. Hamartomatous polyposis syndromes are a diverse group of inherited conditions grouped together because they exhibit hamartomatous rather than epithelial polyp histology. Colorectal polyps may be classified by their macroscopic appearance as sessile flat, arising directly from the mucosal layer or pedunculated extending from the mucosa through a fibrovascular stalk. Hereditary hamartomatous gastrointestinal polyposis syndrome.
Mucocutaneous melanosis and gastrointestinal hamartomatous polyps. Hamartomatous polyps are a good example of such lesions. These syndromes include juvenile polyposis syndrome, peutzajeghers syndrome and the pten hamartoma tumor syndrome. Intestinal ganglioneuromas comprise benign, hamartomatous polyps characterized by an overgrowth of nerve ganglion cells, nerve fibers. These polyps were formed of fundic glandular cysts in otherwise normal gastric mucosa. Hamartomatous definition of hamartomatous by medical dictionary. Colon polyps histopathology 1 hamartomatous polyp they are growths, like tumours found in organs as a result of faulty development. Nonsyndromic hamartomatous polyps were similar to juvps polyps. These polyps arise from an over proliferation of subepithelial cells native to the tissue of origin, and can contain cellular components from any of the three germinal layers forming the intestines. Asymptomatic larger polyps may present with bleeding, anemia, abdominal pain or gastric outlet obstruction gastric polyps comprise of neoplastic and non. There are various subtypes of gastric polyps with different malignant potentials. Hamartomatous mucosal polyps with characteristic central core of branching smooth muscle associated with a mucosa native to site of origin smaller polyps or those from the stomach and colon, may lack the prominent arborizing smooth muscle mod pathol 20. They appear sporadically or as part of hereditary hamartomatous polyposis syndromes hps, characterized by multiple hamartomatous polyps in the gastrointestinal gi tract and exhibit distinct.
Intestinal ganglioneuromas comprise benign, hamar tomatous polyps characterized by an overgrowth of nerve ganglion cells, nerve fibers, and supporting cells. Fundic gland polyps fgps constitute 1651% of begps may be observed in 0. Colorectal polyps may also be histologically classified as neoplastic or as nonneoplastic hyperplastic, hamartomatous, or inflammatory. Hamartomatous polyps account for a small percentage of all colon polyps. Hamartomatous tumors in the gastrointestinal tract semantic. Gastric hamartomatous polyps were found in 25 patients over a period of 4 12 years, for an incidence of 11% in all endoscopically biopsied polyps. As such, the pathologist plays an instrumental role in the care of patients with colon polyps. For jps and cowden syndrome there has been documentation of patients who have both adenomatous and hamartomatous polyps, and malignant transformation might be occurring within adenomatous polyps in this situation. 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. The hamartomatous polyps vary in size and may have a characteristic histological structure, which makes it possible to distinguish between the peutzjeghers polyp and the juvenile polyp. Pdf gastric polyps are frequently encountered on endoscopic examinations. Hamartomatous polyps are most often diagnosed by endoscopy and symptoms include rectal bleeding, pain, anaemia, prolapsing polyp, diarrhoea andor melena. Apr 04, 2020 the hamartomatous polyposis syndromes are a heterogeneous group of disorders that share an autosomaldominant pattern of inheritance and are characterized by hamartomatous polyps of the gastrointestinal tract. Mar 16, 2020 hamartomatous polyps of gastrointestinal tract occur sporadically as well as components of genetic or acquired syndromes.
1067 347 634 268 865 809 365 263 1474 1097 1417 1087 6 87 1433 828 274 499 695 1455 1107 1610 1346 510 492 261 122 828 383 679