XL t(12;21) ETV6/RUNX1 DF consists of a green-labeled probe hybridizing to the ETV6 gene region at 12p13.2 and an orange-labeled probe hybridizing 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.

Acute lymphoblastic leukemia (ALL) is a rapidly progressing cancer type characterized by the malignant transformation of lymphoid progenitor cells. It is the most common childhood cancer type and the second most common leukemia in adults. Treatment of children usually results in good prognosis whereas the outcome for adults is less optimistic. Most patients show a transformation of precursors of the B-cell type, but also the T-cell phenotype is frequently observed. The most common aberration in pediatric B-cell ALL is t(12;21)(p13;q22) with an incidence of about 25%, compared to <5% in adults. The result of this reciprocal translocation is an ETV6/RUNX1 fusion gene. Scientific data suggest that ETV6/RUNX1 is already established prenatally, but additional chromosomal aberrations are necessary for the development of ALL postnatally. The ETV6/RUNX1 fusion gene is transcriptionally active and is dysregulating a cascade of downstream genes. One study has shown, that all positive t(12;21) cases harbored the ETV6/RUNX1 fusion gene but not the reciprocal gene. This suggests, that ETV6/RUNX1 is involved in the manifestation of ALL, but not RUNX1/ETV6.

Since t(12;21) is not detectable by conventional cytogenetic methods, FISH is one of the methods of choice.

Clinical Applications

• Acute Lymphoblastic Leukemia (ALL)

XL t(12;21) ETV6/RUNX1 DF hybridized to bone marrow cells. One normal interphase and one aberrant interphases are shown. The reciprocal translocation is splitting the orange and green signals, resulting in two fusion signals on the relevant chromosomes. One green loci is deleted. The relevant normal remaining loci is indicated by one orange signal.

• Romana et al (1995) Blood 85:3662-3670
• Al-Obaidi et al (2002) Leukemia 16:669-674
• Sun et al (2017) Oncotarget 8:35445-35459

• 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.