Genetics of the hamartomatous polyposis syndromes: a molecular review.

GI Division, Shanghai Institute of Digestive Disease, Shanghai Jiao-Tong University School of Medicine-Renji Hospital, Shanghai, People's Republic of China.
International Journal of Colorectal Disease (Impact Factor: 2.24). 05/2009; 24(8):865-74. DOI: 10.1007/s00384-009-0714-2
Source: PubMed

ABSTRACT Hamartomatous polyposis syndromes are a heterogeneous group of disorders that are inherited in an autosomal dominant fashion. These syndromes only represent a small number of the inherited gastrointestinal cancer predisposition syndromes. However, many of these syndromes carry a substantial risk for developing colorectal cancer, as well as extra-colonic malignancy.
We searched for articles on inherited hamartomatous polyposis syndromes, including familial juvenile polyposis syndrome, Peutz-Jeghers syndrome, PTEN hamartoma tumor syndrome, multiple endocrine neoplasia syndrome 2B, hereditary mixed polyposis syndrome, Cronkhite-Canada syndrome, basal cell nevus syndrome, and neurofibromatosis 1, in PubMed, Embase, and Elsevier ScienceDirect. In this review, we briefly discuss the diagnosis and clinical features of these disorders and the molecular alterations responsible for these syndromes.
Given the clinical similarities of these hamartomatous syndromes and the autosomal dominant pattern of inheritance, it is sometimes difficult to differentiate hamartomatous polyps, especially with atypical presentation. The molecular analysis and diagnosis make it possible to identify the subtype of these syndromes. In addition, these tests raise an intriguing possibility that surveillance and early medical intervention will allow for the identification of at-risk patients and the reduction of morbidity and mortality.

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    ABSTRACT: Cronkhite–Canada syndrome is a rare gastro-entero-colopathy of uncertain aetiology first described almost 60 years ago. It is characterised by diffuse gastrointestinal polyposis sparing only the oesophagus, ectodermal abnormalities and an unpredictable but often fatal clinical course. The disease may demonstrate extremely diverse clinical and endoscopic features, which often leads to a delay in diagnosis. A high index of suspicion and recognition of the characteristic histological findings frequently facilitate a correct diagnosis, but the distribution of the gastrointestinal pathology and its microscopic features may be atypical. The pathologist thus requires a thorough knowledge of both the typical and many atypical faces of this disease, for which various documented therapies often still prove ineffective. Close correlation with clinical findings, including any pertinent ectodermal abnormalities, and careful examination of biopsies derived from polypoid and endoscopically spared mucosa will ensure a timely and correct diagnosis in patients with this enigmatic syndrome.
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    ABSTRACT: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by typical pigmented perioral macules, pigmented spots in the oral mucosa and digits along with hamartomatous polyps in the gastrointestinal tract. The pigmented macules usually appear during infancy or early childhood and have a tendency to increase in size during adolescence. The characteristic clinical course includes recurrent episodes of polyp-induced bowel obstruction, abdominal pain and gastrointestinal bleeding. In addition to polyposis, the risk of gastrointestinal and extragastrointestinal malignancies is significantly higher in patients with PJS. We report two unique cases of Peutz-Jeghers syndrome in sibling with intestinal polyposis and mucocutaneous pigmentation with a definite family history. An overview on differential diagnosis and therapeutic aspects of the disease has been discussed.
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