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The translocation (6;9) (p23;q34) shows consistent rearrangement of two
genes and defines a myeloproliferative disorder with specific clinical
features
D Soekarman, M von Lindern, S Daenen, B de Jong, C Fonatsch, B Heinze, C Bartram, A Hagemeijer and G Grosveld
Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The
Netherlands.
Translocation (6;9)(p23;q34) is a cytogenetic aberration that can be found
in specific subtypes of both acute myeloid leukemia (AML) and
myelodysplastic syndrome (MDS). This translocation is associated with an
unfavourable prognosis. Recently, the genes involved in the t(6;9) were
isolated and characterized. Breakpoints in both the dek gene on chromosome
6 and the can gene on chromosome 9 appear to occur in defined regions,
which allows us to diagnose this type of leukemia at the molecular level.
Moreover, because of the translocation a chimeric dek-can mRNA is formed
which, as we show here, is an additional target for diagnosis via
cDNA-preparation and the polymerase chain reaction (PCR). We studied 17
patients whose blood cells and/or bone marrow cells showed a t(6;9) with
karyotypic analysis. Fourteen patients suffered from AML, one patient had a
refractory anemia with excess of blasts in transformation (RAEBt), one
patient had an acute myelofibrosis (AMF), and one patient a chronic myeloid
leukemia (CML). In nine cases studies at the DNA and RNA levels were
possible while in seven cases only the DNA could be analyzed. In one case
only RNA was available. Conventional Southern blot analysis showed the
presence of rearrangements of both the dek gene and the can gene. In both
genes, breakpoints cluster in one intron in the patients investigated. The
presence of a consistent chimeric dek-can product after cDNA preparation
followed by the PCR was demonstrated. We conclude from our data that the
t(6;9) is found in myeloproliferative disorders with typical clinical
characteristics. This translocation results in highly consistent
abnormalities at the molecular level.
Volume 79,
Issue 11,
pp. 2990-2997,
06/01/1992
Copyright © 1992 by The American Society of Hematology
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