CytoCell EVI1 (MECOM) Breakapart

Probe specification

• EVI1, 3q26.2, Texas Red
• EVI1, 3q26.2, FITC Green
• EVI1, 3q26.2, PF-415 Blue

The EVI1 (MECOM) Breakapart FISH Probe Kit consists of a 158kb probe, labeled in Texas Red, telomeric to the D3S4415 marker and including the LRRC34 gene, a FITC green probe covering a 181kb region, including the entire EVI1 (MECOM) gene and flanking regions and a PF-415 blue probe, which covers a 563kb region centromeric to the EVI1 (MECOM) gene, including the D3S1614 marker.

Probe information

The MECOM (MDS1 and EVI1 complex locus) oncogene at 3q26.2 is often rearranged in hematological malignancies of myeloid origin. MECOM encodes a zinc finger protein that is inappropriately expressed in the leukemic cells of AML and MDS patients¹. This deregulated expression is often due to a chromosomal rearrangement involving 3q26.2, with the two most common aberrations being the t(3;3)(q21;q26.2) and inv(3)(q21q26.2)¹. The breakpoints for the translocations and inversions vary considerably. Inversion breakpoints are found centromeric to, and include the MECOM gene, covering about 600kb. The majority of breakpoints in 3q26.2 translocations are telomeric to the MECOM gene and cover a region including the telomeric end of the MDS1 gene and the MYNN gene². Chromosome rearrangements involving the 3q26.2 region are associated with myeloid malignancies, aberrant expression of MECOM gene and an unfavorable prognosis². AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) is a recognized disease entity according to the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia. This is a transformed or de novo AML with a very aggressive clinical course and aberrations that involve MECOM at 3q26.2 and RPN1 (ribophorin I) at 3q21³. MECOM has also been shown to be rearranged in therapy-related disease via the t(3;21)(q26.2;q22) translocation, resulting in a MECOM-RUNX1 fusion^3,4. MECOM rearrangements are very heterogeneous and may be difficult to detect by conventional cytogenetics, making FISH a useful tool for their detection.

Intended use

The EVI1 (MECOM) Breakapart FISH Probe Kit is a fluorescence in situ hybridization (FISH) Test used to detect rearrangement involving the EVI1 (MECOM) region on chromosome 3 at location 3q26.2, in fixed bone marrow specimens from patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). The test is indicated for characterization of patient specimens consistent with World Health Organization (WHO) guidelines for Classification of Tumours of Haematopoietic and Lymphoid Tissues (Revised 4th Edition) and in conjunction with other clinicopathological criteria. The assay results are intended to be interpreted by a qualified pathologist or cytogeneticist. The test is not intended for use as a stand-alone diagnostic, disease screening, or as a companion diagnostic.

Limitations of the procedure

For In Vitro Diagnostic Use. Rx only.

Reporting and interpretation of FISH results should be consistent with professional standards of practice and should take into consideration other clinical and diagnostic information. This kit is intended as an adjunct to other diagnostic laboratory tests and therapeutic action should not be initiated on the basis of the FISH result alone. Failure to adhere to the protocol may affect the performance and lead to false results.

Each lab is responsible for establishing their own cut-off values. Each laboratory should test sufficiently large number of samples to establish normal population distribution of the signal levels and to assign a cut-off value. The product is for professional use only and is intended to be interpreted by a qualified Pathologist or Cytogeneticist.

For sale in the US only. This product has not been licensed in accordance with Canadian law.