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Diagnosis:
Acute Myeloid Leukemia (AML) FAB-M2
ISCN: 46,XY,t(8;21)(q22;q22)
Cytogenetics: The 8;21 translocation
occurs in 5-10% of all AML cases. It occurs predominantly in AML-M2, but
also less commonly in AML-M0, AML-M1, and AML-M4. The 8;21 translocation
is present as the sole chromosomal abnormality in approximately 15% of
AML-M2s, and along with other chromosomal abnormalities in approximately
40% of AML-M2s. Some common secondary chromosomal abnormalities include
-X, -Y, +8, and del(9q).
Molecular: Thegene at 8q22 is called AML1 (CBFA2 or PEBP2aB or RUNX1)
and codes for the DNA-binding subunit of AML1/CBFB transcription complex.
The gene at 21q22 is called ETO (MTG8) and codes for a protein that has
homology to the Drosophila protein Nervy. The 8;21 translocation creates
a AML1-ETO fusion protein.
Web Links: Atlas
of Genetics and Cytogenetics in Oncology and Haematology
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