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17-050 CBFB Breakapart

CBFB encodes the beta subunit of the CBFA/CBFB transcrip- myelomonocytic subtype with increased bone marrow
tion factor complex involved in myeloid differ entiation. eosinophils, termed AML FAB (French-American-British
Chromosomal abnormalities of inv(16)(pl3.lq22.l) and its classification) type M4Eo, and are found in 5-8% of
associated t(l6;16)(pl3.l;q22.l) translo cation detected in AMLs. This rearrangement may also occur in cases of
approximately 10% of AML (acute myeloblastic leukemia) treatment-related AML. lnversion inv(16)(pl3.llq22.l) or
patients it causes its fusion with the MYHll (smooth muscle translo cation t(l6;16)(pl3.ll;q22.l) produces CBFB-MYHll
myosin heavy chain) gene at l6pl3.l. Rearrangements of gene rearrangements and is classified as a favorable
the CBFB gene are frequently found in patients with the cytogenetic risk group in patients with AML.

BREAKAPART

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

16q22.1

DELETION

(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

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