2013
DOI: 10.1186/1897-4287-11-4
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Hamartomatous polyposis syndromes

Abstract: Hamartomas are tumour-like malformations, consisting of disorganized normal tissues, typical of the site of tumour manifestation. Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome (JPS), Peutz-Jeghers’ syndrome (PJS), hereditary mixed polyposis syndrome (HMPS) and PTEN hamartoma tumour syndrome (PHTS). All the aforementioned syndromes are inherited in an autosomal dominant manner and form a rather heterogenous group both in respect to the number and localization of poly… Show more

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Cited by 21 publications
(36 citation statements)
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“…2,5 After 28 years, the clinical presentation of the syndrome was described by Jeghers. 1,3 This is a rare autosomal dominant disease with high penetrance. 2 The defect identified in patients with PJS is a mutation in the gene LKB1/STK11, encoding a serine-threonine kinase and located in the region 13 3 of the short arm of chromosome 19.…”
Section: Discussionmentioning
confidence: 99%
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“…2,5 After 28 years, the clinical presentation of the syndrome was described by Jeghers. 1,3 This is a rare autosomal dominant disease with high penetrance. 2 The defect identified in patients with PJS is a mutation in the gene LKB1/STK11, encoding a serine-threonine kinase and located in the region 13 3 of the short arm of chromosome 19.…”
Section: Discussionmentioning
confidence: 99%
“…2 The defect identified in patients with PJS is a mutation in the gene LKB1/STK11, encoding a serine-threonine kinase and located in the region 13 3 of the short arm of chromosome 19. 3 This gene regulates apoptosis, thus the loss of its function is related to an unregulated cell proliferation. 6,7 It is believed that a great genetic heterogeneity occurs among patients with PJS.…”
Section: Discussionmentioning
confidence: 99%
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“…JPs are usually detected incidentally as a result of colonoscopy for gastrointestinal tract complaints. Following the identification of JPs on endoscopic examination, lesions are resected endoscopically, and a definitive diagnosis is usually confirmed by pathological examination (9,10).…”
Section: Introductionmentioning
confidence: 99%
“…Hamartomatous polyps are benign tumoral lesions that are characterized by disorganized o v e r g r o w t h o f n o r m a l t i s s u e s 1,2 . T h e hamartomatous polyposis syndromes are a heterogeneous group of disorders including juvenile polyposis syndrome, PTEN hamartoma tumor syndromes; Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and Proteus syndrome, Peutz-Jeghers syndrome, multiple endocrine neoplasia syndrome 2B, hereditary mixed polyposis syndrome, Cronkhite-Canada syndrome, basal cell nevus syndrome and neurofibromatosis type I 2,3 .…”
mentioning
confidence: 99%