The application of molecular biological techniques in malignant hematologic
diseases, particularly leukemias, has led to a rapid increase in knowledge
and a deeper insight into the pathobiology of these diseases. Leukemia is
a very heterogeneous disease on the molecular level. Clonal chromosomal abn
ormalities can be found in the vast majority of cases. A broader understand
ing of the underlying molecular changes has enabled the development of risk
-adapted therapy regimens with improved outcome. One example is the applica
tion of molecular genetic techniques for detecting small numbers of leukemi
a cells after therapy ("minimal residual disease"). This allows the early p
reclinical recognition and prevention of relapse. This study gives a short
overview of the current status of molecular genetics in human leukemias and
its implications for the therapy and prognosis of these diseases. The foll
owing topics are covered: generation of oncogenic fusion genes or dysregula
tion of protooncogenes by chromosomal translocations, detection of minimal
residual disease based on clonally rearranged immunoglobulin or T-cell rece
ptor genes or on leukemia-specific fusion genes, monitoring bone marrow chi
merism after allogeneic transplantation by molecular genetic techniques, an
d the role of oncogenic herpesviruses and retroviruses in human hematologic
malignancies.