XL CBFB/MYH11 plus

Translocation/Dual Fusion Probe

Order Number
D-5126-100-OG
Package Size
100 µl (10 Tests)
Labels
  
Chromosome
16

Description

XL CBFB/MYH11 plus

XL CBFB/MYH11 plus consists of a green-labeled probe hybridizing to the MYH11 gene region at 16p13.1 and an orange-labeled probe hybridizing to the CBFB gene region at 16q22.

Probe maps are created in accordance with the intended purpose of the product. Solid colored bars do not necessarily indicate that the probe fully covers the indicated genomic region. Therefore, caution is advised when interpreting results generated through off-label use. Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale. Further information is available on request.

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Clinical Details

Acute myeloid leukemia (AML) with inv(16)(p13.1;q22) and t(16;16)(p13.1;q22) is listed in the World Health Organization (WHO) classification of tumors of the haematopoietic and lymphoid tissues. These recurrent rearrangements are present in about 10% of young AML patients. In cases with inv(16)/t(16;16), the core binding factor b (CBFB) gene on 16q22 is fused with the smooth muscle myosin heavy chain gene (MYH11) on 16p13.1. Patients carrying inv(16)/t(16;16) usually have a good prognosis. Cryptic insertions with no indication in cytogenetic analyses have been published. In these cases, a partial insertion of MYH11 into CBFB or a partial insertion of CBFB into the MYH11 gene was observed.
FISH probes with a break apart design might overlook this cryptic rearrangement because no separation of flanking regions of CBFB occurs, whereas translocation/dual fusion FISH probes are indicating this kind of cryptic rearrangement. FISH is a complementary method for the detection of inv(16)/t(16;16) increasing the sensitivity in combination with conventional cytogenetics. Furthermore, FISH is a valuable tool for cases without assessable metaphases.

Clinical Applications

  • Acute Myelogenous Leukemia (AML)
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Images

XL CBFB/MYH11 plus

XL CBFB/MYH11 plus hybridized to bone marrow cells. One aberrant interphases is shown. A partial insertion of MYH11 into CBFB results in two green, one orange and one green/orange colocalization/fusion signal.

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Expected Patterns

Expected Pattern 1

Normal Cell:
Two green (2G) and two orange (2O) signals.

Expected Pattern 2

Aberrant Cell (typical results):
One green (1G), one orange (1O), and two green-orange colocalization/fusion signals (2GO) resulting from a reciprocal translocation between the respective loci.

Expected Pattern 3

Aberrant Cell (typical results):
Two green (2G), one orange (1O), and one green-orange colocalization/fusion signal (1GO) resulting from an insertion of parts of the green labeled chromosomal region into the orange labeled region.

Expected Pattern 4

Aberrant Cell (typical results):
One green (1G), two orange (2O), and one green-orange colocalization/fusion signal (1GO) resulting from an insertion of parts of the orange labeled chromosomal region into the green labeled region.

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Literature

  • Fröhling et al (2005) Heamatologica 90:194-199
  • Van Obbergh et al (2014) Cancer Genetics 207:231-232
  • Zhang et al (2017) Adv in Mod Onc Res 3:12-14

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