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Expression of EVI1 in myelodysplastic syndromes and other hematologic
malignancies without 3q26 translocations
M Russell, A List, P Greenberg, S Woodward, B Glinsmann, E Parganas, J Ihle and R Taetle
Department of Medicine, University of Arizona, Tucson.
The EVI1 gene encodes a zinc-finger, DNA-binding protein originally
described as the transforming gene associated with a common ecotropic viral
insertion site in myeloid leukemias. Previous studies demonstrated EVI1
expression in human leukemias in cases with 3q26 translocations, but not in
normal blood or bone marrow. These studies also suggested an association
between EVI1 expression and chromosome 7 deletion (del). Because of this
association, we examined expression of EVI1 using RNA polymerase chain
reaction (PCR) in patients with myelodysplastic syndromes (MDS) and acute
leukemia with and without 3q26 translocations. EVI1 RNA was expressed in
29% of 34 (95% confidence interval, 20% to 50%) patients with the MDS
subtypes refractory anemia (RA), refractory anemia with excess blasts
(RAEB), or refractory anemia with excess blasts in transformation (RAEB-T).
The vast majority of these cases occurred in patients with RAEB and RAEB-T.
EVI1 expression was not detected in patients with chronic myelomonocytic
leukemia (CMML), normal bone marrow or cord blood, or a variety of other
hematologic malignancies. EVI1 RNA was detected in three of 18 patients
with acute myelogenous leukemia (AML) and in two of four patients with
acute promyelocytic leukemia (APL). Karyotypes showed that only one AML
patient had karyotype 3q26 abnormalities, indicating that EVI1 expression
is associated with cases that do not have structural abnormalities
involving chromosome 3q26. These studies document for the first time the
abnormal expression of EVI1 RNA by patients with MDS, and suggest an
important role for EVI1 in the pathogenesis or progression of some myeloid
malignancies.
Volume 84,
Issue 4,
pp. 1243-1248,
08/15/1994
Copyright © 1994 by The American Society of Hematology

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