Definition

inv(16)(p13.1q22), or less commonly t(16;16), joins the CBFB gene with the MYH11 gene to form the CBFB-MYH11 fusion gene. This is the second major "core-binding factor" AML subtype and is generally associated with abnormal eosinophils in the bone marrow; it generally carries a good prognosis, although additional mutations (e.g. KIT, in 9 to 53% of cases) can change the prognosis.

Method

FISH analysis

Accepted sample types

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

Description

Diagnosis and monitoring of AML.

Inheritance

The CBFB-MYH11 fusion is a subsequently acquired/somatic change in the leukemic clone; it is not hereditary.

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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