Definition

The t(12;21)(p13;q22) translocation joins the ETV6 (TEL) gene with the RUNX1 (AML1) gene to form the ETV6-RUNX1 fusion gene. This is the most common structural chromosomal change in childhood B-cell precursor ALL (17 to 25%); 5-year event-free survival is 80 to 97%, making it one of the best-prognosis groups, although late relapses can occur.

Method

FISH analysis

Accepted sample types

Peripheral blood, bone marrow (heparin), lymphoid tissue

Description

Diagnosis and monitoring of pediatric B-ALL and AML.

Inheritance

The ETV6-RUNX1 fusion arises as an acquired/somatic event in leukemic cells (some studies have shown it can begin prenatally, but it remains somatic and is not inherited through the germline).

Related Tests

Inheritance Patterns

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

Go to term →

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

Go to term →

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.

Go to term →

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

A genetic test result falls into three main categories

Go to term →

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.

Go to term →