Vysis ETV6 Break Apart FISH Probe Kit

Product Description

The LSI ETV6 fluorescence in situ hybridization (FISH) probe set is intended to detect rearrangements of the ETV6 gene locus in the chromosome 12p13 region.

Rearrangements of the short arm of chromosome 12 are frequently recurring abnormalities found in a variety of hematologic malignancies of both myelocytic and lymphoid origin. They include balanced and unbalanced translocations which prevalently involve band 12p13. The ETV6 (TEL) gene is the most common target found to be rearranged with more than 40 chromosome bands. ETV6-RUNX1 (AML1) gene fusion resulting from a t(12;21) has been characterized as the most common genetic lesion in pediatric acute lymphoblastic leukemia (ALL) and is associated with a favorable outcome.^1,2

The Vysis LSI ETV6 Dual Color Break Apart Rearrangement Probe has successfully been used in disease and therapy monitoring of different poor prognosis AML cases.^3,4

The Vysis LSI ETV6 (TEL) (12p13) Dual Color Break Apart Rearrangement Probe is a mixture of two probes. The 632 kb SpectrumGreen probe begins about 6 kb proximal to the ETV6 (TEL) gene and extends to toward the centromere. The SpectrumOrange probe begins within ETV6 intron 2 and extends toward the 12p telomere for approximately 490 kb. There is a gap between the two probes of about 140 kb.

Results of Hybridization

Hybridization of this probe to interphase nuclei of normal cells is expected to produce two pair of overlapping, or nearly overlapping, orange and green (yellow fusion) signals. The anticipated signal pattern in abnormal cells having a chromosomal breakpoint within the gap between the two probe targets on one chromosome 12 is one orange, one green, and one fusion signal. Other patterns may be observed if additional genetic alterations are present.
	Normal cell hybridization using the LSI ETV6 (TEL) (12p13) Dual Color, Break Apart Rearrangement Probe.
	Abnormal cell hybridization using the LSI ETV6 (TEL) (12p13) Dual Color, Break Apart Rearrangement Probe.

Probe Map

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Ideogram

References

1. Wloddarska I, La Starza R, Baens M, et al. Fluorescence In Situ Hybridization Characterization of New Translocations Involving TEL (ETV6) in a Wide Spectrum of Hematologic Malignancies. Blood 1998;91(4):1399-1406.
2. Odero MD, Carlson K, Lahortiga I, et al. Molecular cytogenetic characterization of breakpoints in 19 patients with hematologic malignancies and 12p unbalanced translocations. Cancer Genetic and Cytogenetics 2003;142:115-119.
3. Manola KN, Georgakakos VN, Margaritis D, et al. Disruption of the ETV6 gene as a consequence of a rare translocation /12;12)(p13;q13) in treatment-induced acute myeloid leukemia after breast cancer. Cancer Genetics and Cytogenetics 2008;180:37-42.
4. Hauer J, Tosi S, Schuster FR, et al. Graft versus leukemia effect after haploidentical HSCT in a MLL-negative infant AML with HLXB9/ETV6 rearrangement. Pediatric Blood & Cancer 2008;50:921-923.
5. Wiktor AE, Van Dyke DL, Stupca PJ, et al. Preclinical validation of fluorescence in situ hybridization assays for clinical practice. Genetics in Medicine 2006;8:16-23.