Affiliations: Department of General and Transplant Surgery,
Innsbruck Medical University, A-6020 Innsbruck, Austria | Tyrolean Cancer Research Institute, Innrain 66, A-6020
Innsbruck, Austria
Note: [] Corresponding author: Hannes M. Müller, MD, Department of
General and Transplant Surgery, Innsbruck Medical University, A-6020 Innsbruck,
Austria. Tel.: +43 512 504 22555; Fax: +43 512 504 28519; E-mail:
hannes.mueller@uibk.ac.at
Abstract: Colorectal cancer (CRC) is a common malignancy. It arises from
benign neoplasms and evolves into adenocarcinomas through a stepwise
histological progression sequence, proceeding from either adenomas or
hyperplastic polyps/serrated adenomas. Genetic alterations have been associated
with specific steps in this adenoma-carcinoma sequence and are believed to
drive the histological progression of CRC. Recently, epigenetic alterations
(especially DNA methylation) have been shown to occur in colon polyps and CRC.
The aberrant methylation of genes appears to act together with genetic
alterations to drive the initiation and progression of colon polyps to CRC.
DNA methylation changes have been recognized as one of the most
common molecular alterations in human tumors, including CRC. Because of the
ubiquity of DNA methylation changes and the ability to detect methylated DNA in
several body fluids (blood, stool), this specifically altered DNA may serve, on
the one hand, as a possible new screening marker for CRC and, on the other
hand, as a tool for therapy monitoring in patients having had neoplastic
disease of the colorectum. As many CRC patients present with advanced disease, early detection
seems to be one of the most important approaches to reduce mortality.
Therefore, an effective screening test would have substantial clinical
benefits. Furthermore, early detection of progression of disease in patients
having had CRC permits immediate commencement of specific treatment regimens
(e.g. curative resection of liver and lung metastases) and probably longer
survival and better quality of life.
Keywords: Colorectal cancer, DNA methylation, stool, screening, therapy monitoring, review
