To diagnose patients with acute myeloid leukemia (AML) in an optimal
manner, the combined application of conventional and modern cytogenetics
with state-of-the-art molecular
diagnostics is a requirement. Although at present, the WHO accurately
classifies an array of human AML patients based on karyotyping combined
with molecular diagnostic procedures, insight into the molecular defects
of human AML is still increasing. As a result of that, the classifi cation
of AML will be approved in the upcoming years. The focus of this thesis
was to increase our understanding of specific subtypes of human leukemia.
We focused on AMLs with chromosome 3q rearrangements, in particular on
patients with an inv(3)(q21q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1
(shortly: (inv(3)/t(3;3)), frequently associated
with aberrant expression of EVI1, a gene that resides on 3q26.2. Secondly,
we wished to elucidate why certain human AMLs showed high EVI1 expression
without having chromosome
3q26 abnormalities. We investigated the importance high EVI1 levels in
those leukemias and studied the potential to include EVI1 expression
analysis in the diagnosis of AML. The data obtained from the last three
chapters increase our understanding of the molecular and biological effects of EVI1 when aberrantly expressed in AML.http://repub.eur.nl/res/pub/20719/100922_Lugthart%2C%20Sanne.pdf
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