Definition

The CD274 (PD-L1) and PDCD1LG2 (PD-L2) genes are located adjacent to each other on chromosome 9p24.1 and undergo changes in the form of polysomy, copy number gain or amplification in nearly all cases of classic Hodgkin lymphoma; amplification (about 36%) is associated with advanced-stage disease and shorter progression-free survival. This genetic change can be used to predict the likelihood of response to anti-PD-1 therapy.

Method

FISH analysis

Accepted sample types

Fresh tumor tissue, FFPE

Description

Response to drug therapy.

Inheritance

Somatic; an acquired copy number change specific to the tumor cells.

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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