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primeFISH Products Hematology

HEMATOLOGY
PANEL

17-050 CBFB Breakapart

CBFB encodes the beta subunit of the CBFA/CBFB myelomonocytic subtype with increased bone marrow
transcription factor complex involved in myeloid eosinophils, termed AML FAB (French-American-British
differentiation. Chromosomal abnormalities of inv(16) classification) type M4Eo, and are found in 5-8% of
(p13;1q22.1) and its associated t(16;16)(p13.1q22.1) AMLs. This rearrangement may also occur in cases of
translocation detected in approximately 10% of AML treatment-related AML. lnversion inv(16)(p13.11q22.1)
(acute myeloblastic leukemia) patients it causes its fusion or translocation t(16;16)(p13;11q22.1) produces CBFB-
with the MYH11 (smooth muscle myosin heavy chain) MYH11 gene rearrangements and is classified as a
gene at 16p13.1. Rearrangements of the CBFB gene are favorable cytogenetic risk group in patients with AML.
frequently found in patients with the

BREAKAPART

SHGC-83995 RH26936 BV444955 RH70275
5' 3' 5' 3' 3' 5'
Cent Tel
NAE1 CBFB LRRC29
338 kb 319 kb NORMAL

16q22.1

RE-ARRANGEMENT

(Not to scale)

References
Li MM, et al. (2013) Curr Genet Med Rep 1: 99-112.
Krauter J, et al. (2001) Genes Chromosomes and Cancer 30: 342-8. www.diagen.com.tr
Mascarello JT, Hirsch B, Kearney HM, et al. Section E9 of the American College of Medical Genetics tech-
nical standards and guidelines: fluorescence in situ hybridization. Genet Med. 2011;13(7):667-675.
Litzow MR. Haematologica. 2020;105(6):1475-77

PRODUCT CATALOGUE 15