Definition

Biallelic (double allele) mutations in the CEBPA gene are found in 2 to 15% of de novo AML patients and are defined as a separate disease entity in the WHO classification. Unlike single-allele mutations, biallelic mutations (especially those in the bZIP region) are significantly associated with better event-free and overall survival.

Gene/Region Examined

CEBPA Exon 1

Method

DNA analysis

Accepted Sample Types

Fresh tumor tissue, FFPE

Inheritance

Mostly somatic, but in rare familial AML syndromes a germline mutation may be found in one allele of CEBPA; in these cases a somatic mutation is later added to the second allele, making it biallelic.

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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