XL t(12;21)

Translocation/Dual Fusion Probe

Order Number
D-5069-100-OG
Package Size
100 µl
Labels
  
Chromosomes
1221

Description

XL t(12;21)

This product has been replaced by XL t(12;21) ETV6/RUNX1 DF. Order Number D-5115-100-OG

Clinical Details

A number of recurrent chromosomal abnormalities have been shown to have prognostic significance in acute lymphoblastic leukemia, especially in B-precursor ALL. Some chromosomal abnormalities, such as high hyperdiploidy and the ETV6-RUNX1 fusion, are associated with more favorable outcomes, while others, including the t(9;22), rearrangements of the KMT2A gene (chromosome 11q23), and intrachromosomal amplification of the AML1 gene (iAMP21), are associated with a worse prognosis.

The most common translocation is the t(12;21)(p13;q22), which is recognized in up to 25 % of B-precursor ALL. This translocation fuses ETV6 with the RUNX1 gene. The resulting fusion transcript is a transcription factor and functions as a corepressor at RUNX1 target genes. The ETV6/RUNX1 translocation generally implies a good prognosis.

Clinical Applications

  • Acute Lymphoblastic Leukemia (ALL)

Images

XL t(12;21)

XL t(12;21) hybridized to lymphocytes. Two normal interphases are shown.

Expected Patterns

Expected Pattern 1

Normal Cell: Two green (2G) and two orange signals (2O).

Expected Pattern 2

Aberrant Cell (typical results):
One green (1G), one orange (1O), and two green-orange fusion signals (2GO).

Expected Pattern 3

Aberrant Cell (typical results): One orange (1O), and two green-orange fusion (2GO) (adjacent green and orange) signals. In t(12;21) cases the normal ETV6 at 12p13 is often deleted.

Literature

  • Romana et al (1995) Blood 85:3662-3670
  • Sato et al (1997) Blood 90:4886-4893

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