Hamartomatous Polyposis Syndromes

Abstract

SynopsisSince the histological description of the hamartomatous polyp in 1957 by Horrilleno et al., several different syndromes have been described with the propensity to develop these polyps in the upper and lower GI tracts. These include Juvenile Polyposis, Peutz-Jeghers syndrome, hereditary mixed polyposis syndrome, and the PTEN hamartoma tumor syndromes (Cowden and Bannayan-RileyRuvalcaba syndromes), which are autosomal-dominantly inherited, and Cronkhite-Canada syndrome, which is acquired. The clinical aspects, the molecular pathogenesis, the organ systems affected, the risks of cancer, and the management of these hamartomatous polyposis syndromes will be reviewed in this paper. Although the incidence of these syndromes is low, it is important for clinicians to recognize these disorders in order to prevent morbidity and mortality in these patients, and to perform presymptomatic testing in patients at risk.

The long and winding road to rational treatment of cancer associated with LKB1/AMPK/TSC/mTORC1 signaling

“…These hereditay disorders are characterized by the development of hamartomas in multiple tissues (Table 1). Hamartomatous polyps have a relatively benign appearance, but with a markedly disturbed architecture of cells present in the area in which they normally occur, that is, mesenchymal, stromal, endodermal, and ectodermal (Calva and Howe, 2008). Hamartomatous polyps are clearly distinct from the more common adenomatous polyps, which are premalignant lesions characterized by a dysplastic epithelium ('adenoma-to-carcinoma sequence').…”

“…In contrast, the overlying epithelium in hamartomatous polyps is usually well differentiated but can be hyperplastic, and therefore, the malignant potential of hamartomas is still controversial. Despite the fact that these hamartomas follow a relatively benign course, they can cause, for example, bowel obstruction, seizures or hemorrhage, which may lead to severe complications and even death (Calva and Howe, 2008). In addition to the development …”

Juvenile polyposis syndrome with extraintestinal anomalies: report of a rare case with review of literature

“…Juvenile polyps do not have smooth muscle component which distinguishes them from Peutz-Jeghers polyps. 8 Polyps larger than 3 cm are usually pedunculated, with mild to moderate epithelial dysplasia and have higher risk of developing adenomatous change and adenocarcinoma. 9 Patients with JPS have a higher risk of developing colorectal cancer with an incidence of 20.7% with mean age of 34 years and a cumulative cancer risk of 68% by 60 years of age.…”

“…Patients with numerous colonic polyps having anaemia from excessive bleeding or failure to thrive benefit from proctocolectomy with ileorectal or ileo-anal anastomosis. 8 Fewer patients with JPS suffer from extraintestinal congenital abnormalities like macroencephaly, hypertelorism, Meckel's diverticulum, malrotation of small bowel, mesenteric lymphangioma, undescended testes and acute porphyria. 1,3 There is a long list of anomalies such as renal agenesis, bifid uterus, atrial septal defects, arteriovenous malformations of lung, pulmonary stenosis, tetralogy of Fallot, coarctation of aorta, patent ductus arteriosus, aortic stenosis, osteoma, pectus excavatum, hereditary telangiectasia, congenital lymphedema, thyroglossal duct cyst, and amyotonia congenita.…”

Evaluation of Our Pediatric Cases with Peutz-Jeghers Syndrome; Experience of Ondokuz Mayıs University

“…Her ne ka dar bu ya kın ma la rın baş la ma ya şı ço cuk luk dö ne min den iti ba ren ol sa da, has ta la rın ta nı al ma yaş or ta la mala rı 20'li yaş lar ola rak bil di ril mek te dir. 7 Bu ma ka le de, te da viy le dü zel me yen/tek rar layan de mir ek sik li ği ane mi si ve/ve ya ka rın ağ rı sı yakın ma la rı ön plan da olan, üç fark lı ai le den beş ço cu ğun ta nı sı nın, ai le öy kü sü ve fi zik in ce le me bul gu la rı ile na sıl ko nul du ğu na dik ka ti çek mek iste dik.…”