BACKGROUND. Most cancer detection tests currently performed are based
on either antibody assays to a marker protein with altered expression
in cancer patients or on imaging studies to identify characteristic le
sions. Generally, for a positive result, these detection assays requir
e that a tumor have a significant volume of cancer cells. Advances in
diagnostic techniques and technology may allow for cancer detection at
earlier stages, when the tumor burden is smaller and potentially more
curable. The molecular techniques of polymerase chain reaction (PCR)
and reverse transcriptase PCR (RT-PCR) are highly sensitive methods fo
r detecting a small number of cancer cells. Over the past few years, n
umerous clinical studies have used PCR techniques to detect physical a
lterations of genes, such as mutations, deletions, translocations and
amplification, the presence of oncogenic viruses, and the expression o
f genes specific to tissue, cancer, and metastasis. The current status
of PCR as a method for detecting marker genes in the management of so
lid tumors is reviewed. METHODS. A review of the literature on the cli
nical utility of PCR and RT-PCR in the detection of solid tumor microm
etastasis was conducted. RESULTS. Amplification by PCR is a highly sen
sitive method to determine gene expression. A single cell expressing a
tumor marker among 10-100 million lymphocytes can be detected by the
PCR assay. This approach has been used to detect tumor cells in approx
imately 18 different solid tumor types, with melanoma and carcinoma of
the breast and prostate the most widely investigated to date. PCR-bas
ed assays have been used to detect cancer cells in biopsies of solid t
issue, lymph nodes, bone marrow, peripheral blood, and other body flui
ds. Several studies have reported a high specificity and sensitivity o
f tumor marker detection and a high correlation between PCR results an
d the presence of metastatic disease. However, in a few studies, PCR a
ssays have not consistently demonstrated a higher sensitivity and spec
ificity of detection than traditional modalities for many types of can
cer. There has been a wide range in sensitivity and specificity among
the studies, which may be partly attributed to the lack of uniformity
among the PCR protocols used in different studies. CONCLUSIONS. PCR ca
n detect tumor marker-expressing cells that are otherwise undetectable
by other means in patients with localized or metastatic cancer. Repor
ts from various study groups have lacked uniformity in their protocols
, and this has prevented adequate comparison. The clinical utility of
this assay as a tool for the prognosis and management of cancer patien
ts remains and area of active investigation. PCR is a powerful tool in
the study of the biology of cancer metastasis and will likely serve a
s a useful adjunct to clinical decision-making in the future. (C) 1998
American Cancer Society.