XL t(11;19) KMT2A/ELL DF

Translocation/Dual Fusion Probe

Order Number
D-5135-100-OG
Package Size
100 µl (10 Tests)
Labels
  
Chromosomes
1119
Regulatory Status
IVDD

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Product Description

XL t(11;19) KMT2A/ELL DF

XL t(11;19) KMT2A/ELL DF consists of a green-labeled probe hybridizing to the KMT2A gene region at 11q23.3 and an orange-labeled probe hybridizing to the ELL gene region at 19p13.1.

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. Fusions between KMT2A and ELL (elongation factor for RNA polymerase II), caused by translocations of the type t(11;19)(q23;p13.1), belong to the most common KMT2A fusion genes in AML. Approximately 11% of AML patients carrying KMT2A rearrangements are characterized by the KMT2A-ELL fusion gene. The breakpoints within the KMT2A gene resulting in KMT2A-ELL fusions are found in intron 9 in the case of patients younger than one year and in intron 11 in the case of patients older than one year. This breakpoint distribution is unique among all KMT2A fusions. The outcome of patients with breakpoints in KMT2A intron 11 is worse compared to patients with upstream breakpoints. ELL is a component of the super elongation complex (SEC). Chimeric KMT2A-ELL fusion proteins have the ability to recruit SEC resulting in aberrant gene expression.

Clinical Applications

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

XL t(11;19) KMT2A/ELL DF

XL t(11;19) KMT2A/ELL 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 result):
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 (2017) Leukemia 32:273–284
  • Chan and Chen (2019) Front Cell Dev:doi:10.3389/fcell.2019.00081

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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

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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!