About 100 guests from 36 countries met on the XVIII. MetaSystems Distributor Meeting (DM) in November to exchange experiences and to get to know new trends and developments at MetaSystems.
MetaSystems DM2019 Largest in History
XL KMT2A BA
Break Apart Probe
- Order Number
- D-5090-100-OG
- Package Size
- 100 µl (10 Tests)
- Chromosome
- 1111
- Regulatory Status
- IVDD
IVDR Certification
This probe is IVDR-certified in compliance with the Regulation (EU) 2017/746 on in vitro diagnostic medical devices (IVDR).
MetaSystems Probes has already certified a large part of its portfolio, according to IVDR. For organizational reasons, we currently provide only the IVDD product.
XL KMT2A BA consists of an orange-labeled probe hybridizing proximal to the KMT2A gene region at 11q23.3 extending into the gene up to intron 24 and a green-labeled probe hybridizing distal to the KMT2A gene region at 11q23.3 extending into the gene up to intron 20 and thus overlapping each other for 3.4kb (GRCh37/hg19).
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.
The KMT2A (fomerly MLL) gene, located on chromosome 11q23, is rearranged in about 10% of all acute leukemia patients. Most of them suffer from acute lymphoblastic leukemia (ALL) or acute myeloid leukemia (AML). Only a minority shows mixed lineage leukemia which has given the gene its original name ´MLL´. In infants, the incidence of KMT2A rearrangements in leukemia is 70-80%. KMT2A encodes a nuclear protein with methyltransferase activity and is part of multiprotein complexes involved in the regulation of target genes essential during early development and hematopoiesis. Today, more than 80 translocation partners of KMT2A have been identified. Translocations are resulting in in-frame fusions between the KMT2A part N-terminal to the break point cluster region and the respective fusion partners. The most common translocation partners in KMT2A associated leukemia are, in the order of their prevalence, AFF1, MLLT3, MLLT1, MLLT10, ELL and AFDN. Fusion genes may also be the result of an insertion of genetic material including portions of KMT2A into other chromosomal locations. Some examples of fusion genes reported as a result of this mechanism are KMT2A-AFF1, KMT2A-MLLT3 and KMT2A-MLLT10.
The proven MetaSystems XL MLL plus D-5060-100-OG is designed to detect breaks in the KMT2A gene region. Featuring a new gene covering design, XL KMT2A BA D-5090-100-OG allows the detection of cryptic insertion of portions of KMT2A into other chromosomes as an added benefit, provided that the inserted DNA fragment is in the size range detectable by fluorescence microscopy.
Clinical Applications
- Acute Lymphoblastic Leukemia (ALL)
- Acute Myelogenous Leukemia (AML)
XL KMT2A BA hybridized to bone marrow cells, one aberrant cell is shown. A cryptic insertion of KMT2A is observed generating a signal pattern of two orange-green colocalization/fusion signals and one additional orange signal.
Normal Cell:
Two green-orange (2GO) colocalization/fusion signals.
Aberrant Cell (typical results):
One green-orange colocalization/fusion signal (1GO), one separate green (1G) and orange (1O) signal each resulting from a chromosome break in the respective locus. Translocations with breakpoints within the KMT2A breakpoint cluster region result in a small orange split signal remaining with the separated green signal. The residual orange signal is significantly smaller than the separated orange signal and might even be invisible.
Aberrant Cell (typical results):
Two green-orange colocalization/fusion signals (2GO) and one separate usually small orange (1O) signal indicating an insertion of the respective genomic region to an unknown chromosome.
- Soler et al (2008) Cancer Genet Cytogenet 183:53-59
- Meyer et al (2013) Leukemia 27:2165-2176
- Winters and Bernt (2017) Front Pediatr 5:4.doi:10.3389/fped.2017.00004
Second MetaSystems User Day in Altlussheim, Germany
Neon, the outstanding MetaSystems case and image management system, offers many tools and helpful gadgets to streamline routine workflows, for example in cytogenetics labs. The second MetaSystems User Day, addressed to MetaSystems clients from Germany, Austria, and Switzerland, provided in different workshops knowledge helping to unleash the full power of the system.
OOO MetaSystems Russia on the International Scientific Congress 'Genetics of XXI Century'
The Congress 'Genetics of XXI Century' in Moscow, Russia (May 2019) has been one of the most important events for the professional international community of geneticists. Our partner company in Russia OOO MetaSystems considered it a good occasion to present the new camera CoolCube 4 connected to a state-of-the-art Neon system to the public.
