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.
XL SPI1 BA
Break Apart Probe
- Order Number
- D-5145-100-OG
- Package Size
- 100 µl (10 Tests)
- Chromosome
- 1111
- 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.
Discover all IVDR-certified productsXL SPI1 BA is designed as a break apart probe. The orange labeled probe hybridizes proximal to the breakpoint in the SPI1 gene region at 11p11.2, the green labeled probe hybridizes distal to the breakpoint.
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 SPI1 (SFFV provirus integration site-1) gene encodes the ETS-family transcription factor PU.1, which mediates gene expression during normal development of hematopoietic stem cells. SPI1 gene fusions were detected in 7 of 181 (3.9%) pediatric T-cell acute lymphoblastic leukemia (T-ALL) cases, analyzed and described by Seki et al. Genetic consequences of chromosomal rearrangements involving SPI1 are gene fusions containing 3' exons of SPI1 and 5' portions of TCF7, STMN1 and BCL11B. The cterminal DNA binding domain (ETS domain) of the PU.1 protein is present in all known fusions, irrespective of the fusion partner. Fusion-positive samples show strongly increased SPI1 expression levels, as the rearranged portion of SPI1 is placed under the control of heterologous promoters of the above-mentioned genes. As SPI1 is normally expressed as an early phase gene in T-cell development, expression of wildtype SPI1 or SPI1 fusion genes at later stages results in higher cell proliferation and differentiation/ maturation blockade during T-cell development. Fusion-positive cases show significantly shorter overall survival and are incurable when treated with standard chemotherapy.
SPI1 has recently been found to interact with the PML-RARα complex. Additionally, SPI1 itself is transcriptionally regulated by the PML-RARα fusion protein.
Clinical Applications
- Acute Lymphoblastic Leukemia (ALL)
Normal Cell:
Two green-orange colocalization/fusion signals (2GO).
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 relevant locus.
- Martens and Stunnenberg (2010) FEBS Letters 584:2662-2669
- Seki et al (2017) Nat Genetics 49:1274- 1281
- Takei and Kobayashi (2019) Int J Hematol 109:28–34
Certificate of Analysis (CoA)
or go to CoA DatabaseSecond 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.