Role of microsatellite instability in the management of colorectal cancers.

Microsatellite instability is the consequence of a deficient mismatch repair system. It has a key role in the diagnostic strategy of Lynch syndrome, where tumours are all characterized by the presence of this phenotype. Microsatellite instability is therefore essential in the selection of colorectal cancer patients in whom a germline analysis of Mismatch Repair genes is possibly indicated.

Chemotherapy in the treatment of anal canal carcinoma.

Squamous cell carcinomas of the anal canal are generally diagnosed at a localized or locally advanced stage and only 5% are metastatic at the time of diagnosis. Advanced forms are therefore much rarer than localized forms and usually correspond to metachronous metastases of initially localized disease. Systemic chemotherapy is indicated for the treatment of both localized disease, in combination with radiotherapy, and metastatic disease.

[Appropiateness of colonoscopy in a gastrointestinal unit in 2001: a prospective study using criteria established by a European panel of experts].

Unlabelled: Criteria for appropriateness of colonoscopy have been elaborated by an European Panel (EPAGE).

Objectives: 1) To assess the feasibility of EPAGE criteria in clinical practice, 2) to assess colonoscopy appropriateness using EPAGE criteria, 3) to compare colonoscopy appropriateness and findings.

Patients And Methods: Four hundred and six consecutive examinations were included.

[Hereditary non polyposis colorectal cancer].

Hereditary non polyposis colorectal cancer (HNPCC) is characterized by an excess of early colorectal carcinomas, preferentially located on the ascending colon, associated with a variety of extracolonic cancers. The recent demonstration of germline mutations in DNA mismatch repair genes in HNPCC patients enhanced the interest due to the syndrome. Molecular genetic testing of HNPCC has become available, and should help physicians to recommend specific modalities for the surveillance and the management of patients with such a high cancer risk.

Extensive molecular screening for hereditary non-polyposis colorectal cancer.

The genetic abnormalities underlying hereditary non-polyposis colorectal cancer (HNPCC) are germline mutations in one of five DNA mismatch repair genes or in the TGFbetaRII gene. The aim of our study was to evaluate the significance of simple tests performed on tumours to select appropriate candidates for germline mutational analysis. We studied three groups of patients, HNPCC kindreds fulfilling the International Collaborative Group (ICG) criteria (n = 10), families in which at least one of the criteria was not satisfied (n = 7) and sporadic colorectal cancer (CRC) diagnosed before the age of 50 (n = 17).

[Muir-Torre syndrome and familial colorectal cancer: 2 families with molecular genetic analysis].

Introduction: The Muir-Torre Syndrome is a rare genodermatosis, defined by the occurrence of cutaneous tumors (such as sebaceous adenomas, epitheliomas, or carcinomas, and/or keratoacanthomas), and internal malignancies. Recently, molecular analysis in hereditary non polyposis colorectal cancer demonstrated a common genetic basis, linking these two disorders, with the observation of germline mutations in the hMSH2 gene (one of the DNA mismatch repair system genes) in both syndromes. Such molecular demonstration of a single nosological entity should be clinically used to improve the indications of molecular testings in oncogenetics, still restricted to highly stringent criteria for hereditary non polyposis colorectal cancer.

Delineation of the insulin-responsive sequence in the rat cytosolic aspartate aminotransferase gene: binding sites for hepatocyte nuclear factor-3 and nuclear factor I.

Expression of the rat cytosolic aspartate aminotransferase gene is stimulated by glucocorticoids and repressed by insulin in the liver. The regulation by insulin and part of the glucocorticoid effect are mediated by a distal region in the promoter. A 142 bp fragment (-1844 to -1702) confers hormonal sensitivity to the heterologous thymidine kinase promoter in transient-transfection assays in H4IIEC3 hepatoma cells.