XL t(6;11) AFDN/KMT2A DF

Translocation/Dual Fusion Probe

Order Number
D-5132-100-OG
Package Size
100 µl (10 Tests)
Labels
  
Chromosomes
611
Regulatory Status
IVDD

IVDR Certification

MetaSystems Probes has already certified a large part of its portfolio, according to IVDR. For organizational reasons, we currently provide only the IVDD product.

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Product Description

XL t(6;11) AFDN/KMT2A DF

XL t(6;11) AFDN/KMT2A DF consists of an orange-labeled probe hybridizing to the AFDN gene region at 6q27 and a green-labeled probe hybridizing to the KMT2A gene region at 11q23.3.

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

Chromosomal rearrangements of the KMT2A (lysine methyltransferase 2A) gene, formerly MLL (mixed lineage leukemia), are associated with various hematological disorders. Most patients suffer from acute myeloid leukemia (AML) or acute lymphoblastic leukemia (ALL), while only a minority develops mixed lineage leukemia (MLL). Several chromosomal aberrations involving the KMT2A gene have been identified. However, the majority of leukemias result from translocations leading to KMT2A fusions. More than 90 KMT2A translocation partner genes fused to the 5´- KMT2A portion have been identified. The most common translocation partners in KMT2A associated leukemia are AFF1, MLLT3, MLLT1, MLLT10, ELL and AFDN, described here in the order of their frequency. The AFDN (afadin) gene, formerly known as MLLT4 and AF6, is located on chromosome 6 (6q27). KMT2A-AFDN fusions result from translocations of the type t(6;11)(q27;q23). The most frequent breakpoint in the KMT2A gene leading to this translocation is positioned in intron 9. The majority of ALL patients have breakpoints in exon 1 or 2 of the AFDN gene. Intriguingly, T-cell ALL patients show a significantly higher percentage of KMT2A-AFDN and KMT2A-MLLT1 fusions than other ALL subgroup patients. However, within the cohort of patients with KMT2A-AFDN rearrangements, unusual KMT2A breakpoints in intron 21 and 23 have been detected, in a minority of cases. One cellular consequence of the KMT2A-AFDN fusion is an increased and extended DOT1L mediated H3K79 methylation signature, which is also being observed in the presence of KMT2A-AFF1, AFF1-KMT2A, KMT2A-MLLT3, KMT2A-MLLT1, and KMT2A-MLLT10 fusions. Therefore, DOT1L inhibitors are promising candidates for clinical treatment which are currently being evaluated.

Clinical Applications

  • Acute Lymphoblastic Leukemia (ALL)
  • Acute Myelogenous Leukemia (AML)
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Images

XL t(6;11) AFDN/KMT2A DF

XL t(6;11) AFDN/KMT2A DF hybridized to bone marrow cells, two aberrant cells are shown. Translocations are typically observed as one orange and one green signal clearly separated and two orange-green colocalization/fusion signals.

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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.

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Literature

  • De Braekeleer et al (2011) Mol Oncol 5:555-563
  • Meyer et al (2013) Leukemia 27:2165-2176
  • Meyer et al (2017) Leukemia 32:273–284

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News

IVDR Certification

MetaSystems Probes has received IVDR certification for our initial 26 fluorescence in situ hybridization (FISH) probes from the notified body, BSI. Achieving this milestone was not without its challenges, and we are delighted to have accomplished IVDR certification for this probe set at an early stage.

IVDR Certification

New Probes Catalog is Online!

 

MetaSystems Probes is pleased to announce the new catalog including new and innovative products and supporting information. A PDF version of the new catalog is available for download here.

New Probes Catalog is Online!