Definition

The EWSR1 gene is located at 22q12 and is rearranged as a common partner gene in a wide variety of sarcomas. In Ewing sarcoma it typically forms a fusion with FLI1 or ERG, and in desmoplastic small round cell tumor with WT1; it is also seen in other tumors such as myxoid liposarcoma and clear cell sarcoma.

Method

FISH analysis

Accepted sample types

Fresh tumor tissue, FFPE paraffin block

Description

Prognosis.

Inheritance

This is a somatic chromosomal rearrangement; it is a tumor-specific acquired change and is not inherited. Its presence alone is not diagnostic; identification of the fusion partner is required for definitive subtype classification.

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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