XL RUNX1 consists of an orange-labeled probe hybridizing proximal to the RUNX1 gene region at 21q22.1 and a green-labeled probe hybridizing distal to the RUNX1 gene region at 21q22.1.

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.

Several recurrent balanced translocations and inversions, and their variants, are recognized in the WHO category acute myeloid leukemia (AML) with recurrent genetic abnormalities. Furthermore, several cytogenetic abnormalities are considered sufficient to establish the WHO diagnosis of AML with myelodysplasia-related features if 20% or more blood or marrow blasts are present.

The RUNX1 gene, located on chromosome 21q22.1, is crucial for the establishment of definite hematopoiesis and the generation of hematopoietic stem cells in the embryo. The most common translocations involving RUNX1 are the t(8;21) RUNX1T1/RUNX1 in AML and t(12;21) ETV6/RUNX1 in acute lymphoblastic leukemia (ALL), both associated with a more favorable diagnosis. More than 40 different translocation partners have currently been identified making the RUNX1 break apart probe a valuable tool in molecular cytogenetics.

Clinical Applications

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

XL RUNX1 was hybridized to lymphocytes. One normal interphase and metaphase are shown.

• Martinez-Ramirez et al (2001) Haematologica 86:1245-1253
• Zhang et al (2002) PNAS 99:3070-3075
• Harrison et al (2014) Leukemia 28:1015-1021

• Utility and performance of bacterial artificial chromosomes-on-beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples.
• A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.
• Distinct roles of ATM and ATR in the regulation of ARP8 phosphorylation to prevent chromosome translocations.
• Heterogeneous MYCN amplification in neuroblastoma: a SIOP Europe Neuroblastoma Study.
• Immense random colocalization, revealed by automated high content image cytometry, seriously questions FISH as gold standard for detecting EML4-ALK fusion.
• Fluorescence in situ hybridisation assays designed for del(7q) detection uncover more complex rearrangements in myeloid leukaemia cell lines
• Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation.
• A rare case of t(11;22) in a mantle cell lymphoma like B-cell neoplasiaresulting in a fusion of IGL and CCND1: case report.
• Genomic DNA-chip hybridization in t(11;14)-positive mantle cell lymphomas shows a high frequency of aberrations and allows a refined characterization of consensus regions.