The emerging relevance of colorectal cancer (CRC) in the last few years is well
known. In Spain, this is the most prevalent malignancy and the second cause of can-
cer-related mortality. Focusing on both genders, over 25,000 new cases are diagnosed
in Spain, and around 13,000 individuals die from this condition every year (1). Thus,
more than ever, this unquestionable significance makes our deeper understanding
mandatory, which has evolved on an ongoing basis ever since Fearon and Vogelstein
defined their colorectal carcinogenesis model back in 1990 (2). Today, the hypothesis
that most CRCs emerge from adenomas via the suppressor –also referred to as chro-
mosome instability (CI)– route, which is initiated by a mutation in gene APC –this is
the classical description of colorectal carcinogenesis corresponding to the adenoma-
carcinoma sequence (2)–, is only met by 60% of cases (3), and two additional alter-
native, non –excluding routes, are now considered– the microsatellite instability (MSI)
pathway, associated with Lynch syndrome and a small proportion of sporadic cases,
and the methylator phenotype pathway, most recently identified and referred to as
CIMP (CpG Island Methylator Phenotype) in the English-language literature. Advances
occurred in the understanding of the molecular basis of CRC are doubtless the strongest
drive towards a more rational, specific management for this condition via the identi-
fication of new, more specific therapy targets, as well as markers to describe the various
behaviors of the disease.
Epigenetics is a term used to describe the mechanisms than may modify at various
levels the expression of specific genes without altering the corresponding DNA
sequence, including DNA methylation, chromatin remodeling, and other processes
mediated by non-coding RNA molecules (4). From a general perspective, a tumor
would originate from multiple, cumulative changes in the genome of its cells, both
epigenetic and DNA sequence changes. These sequence changes include deletions
in chromosome regions with gene loss that may be associated with negative cell-
cycle regulation (tumor suppressor genes), mutations that may activate or inactivate
a number of proteins, gene amplifications entailing an overexpression of specific
genes, and even loss or gain of entire chromosomes.
As mentioned above, colorectal carcinogenesis pathways are sometimes mutually
excluding, as is the case with MSI and CI, whereas on other occasions there may
be some overlap, as occurs with CIMP. CRC is being increasingly classified into
various phenotypes according to its molecular profiles (5). Thus, its classification
from a molecular viewpoint is based on the predominant cell event (CI, MSI, CIMP)
or, equivalently, according to the event-initiating factor (suppressor pathway for
CI; mutation pathway for MSI; methylator pathway for CIMP).
CIMP relates to changes at the epigenetic level, more specifically at the DNA
methylation level. CpG islands are DNA regions that conform around 40% of gene
Methylation in colorectal cancer
61130-0108/2012/104/3/107-110
REVISTA ESPAÑOLA DE ENFERMEDADES DIGESTIVAS
Copyright © 2012 ARÁN EDICIONES, S. L.
REV ESP ENFERM DIG (Madrid)
Vol. 104, N.° 3, pp. 107-110, 2012
E d i t o r i a l