1
The Cell: Basic Structure and Function
determinants of a distinct biological phenotype. The biologi-
cal and chemical principles that control the activities of genes
within cells have been explored and have revealed why and
when certain cells adopt distinct functions. Since the expres-
sion of certain sets of genes also determines the shape of
cells, functional irregularities and errors are frequently indi-
cated by altered morphology. In particular early changes asso-
ciated with neoplastic transformation of cells are indicated
by initially discrete and later substantial and prominent mor-
phological alterations of cells. Early detection of cancer and
many other diagnostic applications in medicine are based on
these fundamental concepts and have built the cornerstones
of pathology and cytopathology.
As achievements in understanding genes and their func-
tions in cellular biology and pathology have progressed,
distinct markers or proteins encoded by defined genes that
indicate specific alterations have been identified. In recent
years this concept has been of particular importance for the
area of oncology, where the (over)expression of certain pro-
teins has been found to be associated with the initial events
that finally result in cellular transformation and outgrowth of
cancer cells. Neoplastic transformation of cells has been real-
ized to be a malfunction of genes that control growth and dif-
ferentiation. Basic principles of this malfunction have been
elucidated. Desegregation of chromosomes during cell divi-
sion, lack of genome surveillance during the replication of
the genetic code, and activation of viral (e.g. papillomavirus)
oncogenes in cells have been identified as causes of neoplastic
transformation. Based on these fundamental concepts, func-
tional genomics and proteomics have revealed the expression
of distinct patterns of proteins in specific disease conditions.
Such proteins are now usually referred to as biomarkers. The
detection and evaluation of biomarkers is becoming a more
and more important part of pathology and cytopathology as
it makes it possible to track down morphological alterations
of cells to the functional level of genes. The contribution of
certain carcinogenic human papillomavirus types to carcino-
genesis particularly of cells at the uterine transformation zone
is a good example for this paradigm and exemplifies the diag-
nostic potential that these new concepts hold for the future.
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