Genetics of the hamartomatous polyposis syndromes: a molecular review
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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- "The mutation of PTEN tumor suppressor gene that is present on one allele in every cell in a body cannot inhibit the endothelial tube formation induced by the vascular endothelial growth factor (VEGF) which results in the subsequent VEGF expression. The somatic PTEN mutations do not have an antiangiogenic effect, acting as a regulator of the cellular growth activated by tyrosine kinase.14,15 "
ABSTRACT: Cowden's disease, also known as a kind of phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome, is an uncommon autosomal dominant inherited complex disorder with various hamartomatous growths of multiple organs involving all three germ cell layers. It usually manifests with polyps throughout the gastrointestinal tract, ranging anywhere from 30% to 85%, and more common extra intestinal findings. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules and macrocephaly, and malignancies including breast, thyroid and endometrial carcinoma are the hallmark of the disease. Here we report on familial Cowden's diseases case of a 52-year-old male proband with mucocutaneous lesions and mutation on the PTEN gene obtained by extrapolating from gastrointestinal polyposis as a starter and his daughter who developed thyroid cancer.01/2013; 46(1):85-90. DOI:10.5946/ce.2013.46.1.85
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ABSTRACT: Colorectal cancer is one of most common digestive malignant tumours; both the incidence and mortality are on the top list. Studies show that nearly a third of the colorectal cancer was caused by hereditary colorectal tumours. Hereditary colorectal tumours mainly include two categories: hereditary nonpolyposis colorectal cancer and hereditary colorectal polyposis; and hereditary colorectal polyposis can also be divided into two types: adenomatous polyposis syndrome and hamartoma polyposis syndrome; including a serial of diseases, such as familial adenomatous polyposis, Peutz-Jeghers syndrome, familial juvenile polyposis coli, PTEN hamartoma tumor syndrome, hereditary mixed polyposis syndrome, et al. Hereditary colorectal tumours is one of the hotspot of clinical oncology for its special genetic basis and clinicopathologic features. In order to deepen people's understanding and improve clinicians' diagnostic ability of hereditary colorectal tumors, the research progress and agreement of hereditary colorectal tumors are
- Viszeralmedizin / Visceral Medicine 01/2011; 27(4). DOI:10.1159/000330684 · 0.10 Impact Factor