CBFB gene break apart is a characteristic chromosomal abnormality of AML, accounting for 5%-10% of total AML patients and 23% of M4 patients It is usually found in the AML-M4E0 subtype, but less in M2, M5 and M4 (no eosinophilic granulocytosis). It is now considered that CBFB gene break apart is a characteristic genetic alteration of M4E0.
PROBE DESCRIPTION
CBFB gene 5’end region uses an orange-red fluorescein, the CBFB gene 3’end uses a green fluorescein, and the translocation of 16q22 region is detected with MLL gene break probe. All CBFB gene rearrangements can be detected and avoiding separate detection due to missed diagnosis caused by gene fusion.
CLINICAL SIGNIFICANCE
Most AML patients with CBFB gene break apart are sensitive to chemotherapy and have a good prognosis.
References
Krauter J, et al. (2001) Genes Chromosomes and Cancer 30: 342-8.
Li MM, et al. (2013) Curr Genet Med Rep 1: 99-112.