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Hereditary gastrointestinal polyposis: Diagnosis, genetic test and risk assessment

Open Journal of Genetics 2013年第2期3卷 50-58页

作者： Marina De Rosa francesca duraturo Raffaella Liccardo Paola Izzo Dipartimento di Medicina Molecolare e Biotecnologie Mediche and CEINGE Biotecnologie Avanzate Università di Napoli Federico II Naples Italy

Colorectal cancer (CRC) is the second cause of cancer deaths, with over 1 million new cases estimated every year. Familial adenomatous polyposis, MUTYH-associated polyposis and hamartomatous polyposis are inherited syndromes that account for 2%-5% of all colon cancer. The mutated genes responsible for the vast majority of these disorders, are now known (MLH1, MSH2, MSH6, PMS2, APC, MYH, LKB1, SMAD4, BMPR1A, and PTEN) and specific mutations have been identified. Molecular caracterization of inherited CRCs allows pre-symptomatic diagnosis identifying at-risk individuals and improving cancer surveillance. Adenomatous polyposis includes familial adenomatous polyposis (FAP), attenuated FAP (AFAP), and MUTYH-associated polyposis (MAP). Hamartomatous polyposis comprises Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome (JPS) and “PTEN hamartoma tumour syndrome” (PHTS). MAP is an autosomal recessive condition, while all other disorders are inherited in an autosomal dominant manner. Differential dyagnosis could be very difficult between syndromes because of their phenotypic variability. Attenuated FAP, MAP and Lynch syndrome could be all associated with fewer numbers of adenomas (3-10 polyps), nevertheless, each syndrome has distinct cancer risks, characteristic clinical features, and separate genetic etiologies. Thus, differential diagnosis is essential for correct management of the specific disease. In our laboratory we set up a methodology for genetic tests of the colorectal polyposis syndrome. In these reviews we summarize the literature data and our experience about diagnosis, genetic tests and cancer risk assesment associated with colorectal polyposis. According to literature data, in our experience, there is a portion of analyzing patients that remain without identified mutation, after molecular screening of the specific gene involved in the pathogenesis of the disease. Since the sensibility of used techniques, such as DHPLC, MLPA and sequencing, is now very h

关键词： Familial Adenomatous Polyposis (FAP) MUTYH-Associated Polyposis (MAP) Peutz-Jeghers Syndrome (PJS) PTEN Hamartoma Tumour Syndrome (PHTS)

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Synergistic effect of interleukin-10-receptor variants in a case of early-onset ulcerative colitis

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World Journal of Gastroenterology 2013年第46期19卷 8659-8670页

作者： Martina Galatola Erasmo Miele Caterina Strisciuglio Lorella Paparo Daniela Rega Paolo Delrio francesca duraturo Massimo Martinelli Giovanni Battista Rossi Annamaria Staiano Paola Izzo Marina De Rosa Department of Molecular Medicine and Medical Biotechnology and CEINGE Biotecnologie Avanzate University of Naples"FedericoⅡ" Department of Translational Medical Sciences Section of PediatricsUniversity of Naples"FedericoⅡ" Colorectal Surgical Oncology-Abdominal Oncology Department Istituto Nazionale per lo studio e la cura dei tumori"Fondazione Giovanni Pascale"IRCCS-80131 NaplesItaly Endoscopy Unit Istituto Nazionale per lo studio e la cura dei tumori"Fondazione Giovanni Pascale"IRCCS-80131 NaplesItaly

AIM:To investigated the molecular cause of very early-onset ulcerative colitis(UC)in an 18-mo-old affected ***:We analysed the interleukin-10(IL10)receptor genes at the DNA and RNA level in the proband and his *** catenin and tumor necrosis factor-α(TNFα)receptors were analysed in the proteins extracted from peripheral blood cells of the proband,his relatives and familial adenomatous polyposis(FAP)and PTEN hamartoma tumor syndrome(PHTS)*** were also collected from the proband’s inflamed colorectal mucosa and compared to healthy and tumour mucosa collected from a FAP patient and patients affected by sporadic colorectal cancer(CRC).Finally,we examined mesalazine and azathioprine effects on primary fibroblasts stabilised from UC and FAP ***:Our patient was a compound heterozygote for the IL10RB E47K polymorphism,inherited from his father,and for a novel point mutation within the IL10RA promoter(the-413G->T),inherited from his *** catenin and tumour necrosis factorαreceptors-Ⅰ(TNFRI)protein were both over-expressed in peripheral blood cells of the proband’s relatives more than the ***,TNFRII was over-expressed only in the ***,both TNFα-receptors were shown to be under-expressed in the inflamed colon mucosa and colorectal cancer tissue compared to healthy colon *** with this observation,mesalazine and azathioprine induced,in primary fibroblasts,IL10RB and TNFRII over-expression and TNFRI and TNFα*** suggest thatβ-catenin and TNFRI protein expression in peripheral blood cells could represent molecular markers of sub-clinical disease in apparently healthy relatives of patients with early-onset ***:A synergistic effect of several variant alleles of the IL10 receptor genes,inherited in a Mende-lian manner,is involved in UC onset in this young child.

关键词： Inflammatory bowel disease Ulcerative colitis Interleukin 10 receptors Tumour necrosis fac-tor α receptors Beta catenin

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