Definition

EML4-ALK is an oncogenic gene product formed by the fusion of the EML4 gene with the anaplastic lymphoma kinase (ALK) gene. It occurs in approximately 3 to 5% of non-small cell lung cancer (NSCLC) and is often detected in younger, non-smoking patients. The fusion protein produces a permanently activated tyrosine kinase, and ALK inhibitors (such as crizotinib, alectinib, lorlatinib) are FDA-approved treatment options.

Method

FISH analysis

Accepted sample types

Fresh tumor tissue, FFPE paraffin block

Description

Response to drug treatment.

Inheritance

The EML4-ALK fusion is an acquired (somatic) chromosomal rearrangement in tumor tissue; it 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

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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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