Pericentric inversion of chromosome 16, between loci p13q22, is a clear indication of acute myelomonocytic leukemia (AMML). The inversion leads to formation of the hybrid gene CBFB/PEBP2B-MHY11, the function of which is analogous to that of oncogenes and is directly related to the pathology of this disorder.
This test is useful for patients with hemopoietic disorders for the diagnosis and/or confirmation of chronic and acute leukemia, for evaluation of remission or relapse or even after bone marrow transplantation for evaluation of recurrence of the disorder.
The translocation is detected through FISH, using specific custom-labeled DNA probes, from at least 100 bone marrow cell nuclei.
This test may also be applied in combination with:
- Karyotype analysis of bone marrow cells, combined with molecular detection of multiple chromosomal rearrangements
- Multicolor karyotype (M-FISH)