XL t(12;21) ETV6/RUNX1 DF

Translocation/Dual Fusion Probe

Order Number
D-5115-100-OG
Package Size
100 µl
Labels
  
Chromosomes
1221

Description

XL t(12;21) ETV6/RUNX1 DF

XL t(12;21) ETV6/RUNX1 DF is designed as a dual fusion probe. The orange labeled probe spans the breakpoint at 21q22 (RUNX1), the green labeled probe spans the breakpoint at 12p13 (ETV6).

Clinical Details

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 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% against <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)

Images

XL t(12;21) ETV6/RUNX1 DF

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.

Expected Patterns

Expected Pattern 1

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

Expected Pattern 2

Aberrant Cell (typical results):
One green (1G), one orange (1O), and two green-orange colocalization/fusion signals (2GO) resulting from a reciprocal translocation between the relevant loci.

Expected Pattern 3

Aberrant Cell (typical results):
No green (no G), one orange (1O), and two green-orange colocalization/fusion signals (2GO) resulting from a reciprocal translocation between the respective loci and a deletion of the locus covered by the green probe. In t(12;21) cases the normal ETV6 at 12p13 is often deleted.

Literature

  • 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

Downloads

Order Now or Request Assistance

Contact Us »

Contact MetaSystems directly or find your local MetaSystems partner.