FISH for-3q26(EVI1 gene)

FISH for 3q26 (EVI1 Gene) – Test Overview

Test Name: FISH for 3q26 (EVI1 Gene) Rearrangement
Sample Type: Bone Marrow Aspirate / Peripheral Blood
Method: Fluorescence In Situ Hybridization (FISH)

About the Test

The EVI1 (Ecotropic Viral Integration Site 1) gene, located at chromosome 3q26.2, is an important oncogene involved in the development of several myeloid malignancies. Rearrangements involving the 3q26 region lead to abnormal EVI1 activation and are associated with aggressive disease behavior and poor prognosis.

Clinical Significance

This test helps detect:

• inv(3)(q21q26.2)
• t(3;3)(q21;q26.2)
• Other rearrangements involving the EVI1/MECOM locus
• EVI1-associated abnormalities in:
  • Acute Myeloid Leukemia (AML)
  • Myelodysplastic Syndrome (MDS)
  • Myeloproliferative Neoplasms (MPN)
  • Blast-phase Chronic Myeloid Leukemia (CML)

Why is the Test Ordered?

• Diagnosis and classification of myeloid malignancies
• Detection of cryptic 3q26 rearrangements not evident on routine karyotyping
• Prognostic risk assessment
• Treatment planning and disease monitoring

Interpretation

• Positive Result: Indicates a rearrangement involving the EVI1/MECOM region, often associated with adverse-risk disease and poorer clinical outcomes.
• Negative Result: No detectable EVI1 rearrangement within the assay's resolution limits.

Key Benefits

• High sensitivity and specificity
• Detects cryptic chromosomal abnormalities
• Rapid adjunct to conventional cytogenetics
• Supports diagnosis, prognosis, and therapeutic decision-making

Recommended for: Patients with suspected or confirmed AML, MDS, MPN, or other myeloid neoplasms where 3q26 abnormalities are clinically relevant.