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Selected Publication:

Setaffy, L.
MICROSATELLITE INSTABILITY IN COLORECTAL CANCER: CLINICOPATHOLOGICAL SIGNIFICANCE A histological, immunohistochemical and molecular approach
Humanmedizin; [ Diplomarbeit ] Graz Medical University; 2015. pp. [OPEN ACCESS]
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Authors Med Uni Graz:
Advisor:
Langner Cord
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Abstract:
Although often viewed as a single disease, colorectal cancer more accurately represents a constellation of heterogeneous subtypes that result from different combinations of genetic events and epigenetic alterations. Chromosomal instability (CIN), microsatellite instability (MSI) and CpG island methylator phenotype (CIMP)have been identified as the three major molecular characteristics which interact with other significant mutations, such as mutations in the KRAS and BRAF genes. Highlevel MSI (MSI-H) is of eminent clinical importance. It is the seminal molecular feature for the identification of individuals with Lynch syndrome, but it may also occur in sporadic cancers with CIMP phenotype, which arise from serrated precursor lesions. MSI-H status is a marker of favorable prognosis and may be used for outcome prediction, that is, molecular grading. Among others, mucinous and medullary histology, signet-ring cell differentiation, and marked anti-tumoral immune response are histological features suggesting MSI. Universal tumor testing is recommended and may be performed using immunohistochemistry (mismatch repair protein expression) or molecular analysis, as has recently been recommended by an international task force. In this review, I will refer in detail to the molecular pathogenesis of colorectal cancer, focusing on the diagnosis of MSI in both hereditary and sporadic tumors. Additionally, the analysis of the data of colorectal cancer patients who were operated within a three-year period aims to identify and summarize histopathological characteristics as well as the molecular background of colorectal cancer diagnoses. The prospective database of colorectal cancer patients was generated at the Institute of Pathology, Medical University Graz, in collaboration with the Department of Surgery (“Darmkrebszentrum”), Krankenhaus der Barmherzigen Brüder, St. Veit an der Glan. The results are in line with previous reports.

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