Definition

The t(8;21)(q22;q22) translocation joins the RUNX1 (AML1) gene with the RUNX1T1 (ETO) gene to form the RUNX1-RUNX1T1 fusion gene. This is one of two subtypes of "core-binding factor" AML and disrupts the transcription factor complex involved in normal hematopoiesis; it has a favorable prognosis with cytarabine-based treatment (3-year overall survival 80.6%) but carries a 40 to 50% relapse risk.

Method

FISH analysis

Accepted sample types

Peripheral blood, bone marrow (heparin), blood (heparin)

Description

Diagnosis and monitoring of AML.

Inheritance

The RUNX1-RUNX1T1 fusion arises as an acquired/somatic change in leukemic cells; it is not inherited.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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