Genetic Test Determines Acute Myeloid Leukemia Prognosis

A new in vitro diagnostic test helps establish the prognosis of patients with acute myeloid leukemia (AML), one of the most common types of leukemia in older adults.

The Vysis EGR1 Probe Kit detects the chromosomal deletion of the LSI EGR1 probe target in bone marrow, usually associated with an unfavorable prognosis for AML patients. The kit is based on fluorescence in situ hybridization (FISH), and it can identify whether too many, or too few, copies of a particular gene are present in the body's cells, or whether certain genes have rearrangements that play an active role in disease progression. The chromosomal deletion of the EGR1 probe target occurs on chromosome 5q and is approximately 209 kb in length, located at 5q31, and contains the complete EGR1 gene.

The probe kit is intended for use in bone marrow specimens and is for use together with cytogenetics, other biomarkers, morphology, and other clinical information. If a specimen has a low level abnormal FISH pattern, use of the appropriate single-pass filter to confirm the pattern is recommended, and metaphase analysis may be helpful in characterization if other abnormal signal patterns may occur. The Vysis EGR1 FISH Probe Kit is a product of Abbott (Abbott park, IL, USA), and has been approved by the US Food and Drug Administration (FDA).

“Abbott's Vysis EGR1 FISH Probe Kit can identify which AML patients have the chromosomal abnormality upon diagnosis and provides physicians with another clinically validated tool to assess a patient's overall prognosis,” said Stafford O'Kelly, head of Abbott's molecular diagnostics business.

AML is a cancer of the myeloid line of blood cells, characterized by the rapid growth of abnormal white blood cells (WBCs) that accumulate in the bone marrow and interfere with the production of normal blood cells. AML is the most common acute leukemia affecting adults, and its incidence increases with age. Although AML is a relatively rare disease, accounting for approximately 1.2% of cancer deaths in the United States, its incidence is expected to increase as the population ages.

The symptoms of AML are caused by replacement of normal bone marrow with leukemic cells, which causes a drop in red blood cells, platelets, and normal WBCs. These symptoms include fatigue, shortness of breath, easy bruising and bleeding, and increased risk of infection. Several risk factors and chromosomal abnormalities have been identified, but the specific cause is not clear. As an acute leukemia, AML progresses rapidly and is typically fatal within weeks or months if left untreated.

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