Hamartomatous polyposis syndromes

Abstract

The hamartomatous polyposis syndromes are a heterogeneous group of disorders that share an autosomal-dominant pattern of inheritance and are characterized by hamartomatous polyps of the gastrointestinal tract. These syndromes include juvenile polyposis syndrome, Peutz-Jeghers syndrome and the PTEN hamartoma tumor syndrome. The frequency and location of the polyps vary considerably among syndromes, as does the affected patient's predisposition to the development of gastrointestinal and other malignancies. Although the syndromes are uncommon, it is important for the clinician to recognize these disorders because they are associated with considerable morbidity and mortality, not only from malignancy but also from nonmalignant manifestations such as bleeding, intussusception, and bowel obstruction. Each hamartomatous polyposis syndrome has its own distinctive organ-specific manifestations and each requires a different surveillance strategy, which makes accurate diagnosis crucial for appropriate patient management. The availability of clinical genetic testing for these disorders means that appropriate recognition allows for timely referral for cancer genetic counseling, and often allows for predicative testing in at-risk family members. Promisingly, an understanding of the molecular pathogenesis of these disorders offers insights into the mechanisms underlying the development of sporadic malignancy, and enables rational selection of targeted therapies that warrant further investigation.

Inheritance of colorectal cancer

“…The hamartomatous polyposis conditions include Peutz-Jeghers, juvenile polyposis and Cowden's syndromes [24,25]. Each of these three is extremely rare, occurring in between one in 100,000 and one in 200,000 persons.…”

The nuclear affairs of PTEN

“…In this Commentary, we focus on nuclear localization of PTEN, and the importance of this in normal physiology and disease. Other nontraditional mechanisms of regulation are discussed or reviewed elsewhere (Pezzolesi et al, 2006;Teresi et al, 2007;Zbuk and Eng, 2007).…”

Unusual Presentation of Intussusception of the Small Bowel with Peutz Jeghers Syndrome: Report of a Case

“…The cause of PJS appears to be a germline mutation of the STK11/LKB1 (serine/threonine kinase 11) tumour suppressor gene in most of the cases (70-80%) [2,3]. Its incidence has been estimated to be one in 120000 births [4].…”