XL t(10;11) MLLT10/KMT2A DF

Translocation/Dual Fusion Probe

Order Number
D-5134-100-OG
Package Size
100 µl (10 Tests)
Labels
  
Chromosomes
1011
Regulatory Status
IVDD

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For organizational reasons, we currently provide only the IVDD product.

Product Description

XL t(10;11) MLLT10/KMT2A DF

XL t(10;11) MLLT10/KMT2A DF consists of an orange-labeled probe hybridizing to the MLLT10 gene region at 10p12.3 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. MLLT10 (MLLT10 Histone Lysine Methyltransferase DOT1L Cofactor), previously known as AF10, is one of the most frequent fusion partners of KMT2A across all acute leukemia cases. KMT2A-MLLT10 fusions result from multiple breakpoints in both gene loci. The subsequent chromosomal rearrangements include reciprocal translocations, insertions, inversions, deletions and duplications. MLLT10 is a cofactor of the histone H3K79 methyltransferase DOT1L and mediates the interaction of AFF1, MLLT1 and MLLT3 with DOT1L. The consequence of the presence of KMT2A-AFF1, AFF1-KMT2A, KMT2A-MLLT3, KMT2A-MLLT1, and KMT2A-MLLT10 fusions is an increased and extended H3K79 methylation signature that is a requirement for the maintenance of RNA transcription. 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(10;11) MLLT10/KMT2A DF

XL t(10;11) MLLT10/KMT2A DF hybridized to bone marrow cells, two aberrant cells are shown. An insertion of portions of the green signal into the orange signal has occured generating a pattern of 2 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):
Two green (2G), one orange (1O), and one green-orange colocalization/fusion signal (1GO).

Expected Pattern 3

Aberrant Cell (typical results):
Two green (2G), two orange (2O), and one green-orange colocalization/fusion signal (1GO).

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Literature

  • De Braekeleer et al (2011) Mol Oncol 5:555-563
  • Meyer et al (2013) Leukemia 27:2165- 2176
  • Peterson et al (2019) Genes Chromosomes Cancer 58:567-577

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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!