Definition

The MYCN oncogene is located at 2p24.3 and is amplified in approximately 20 to 30% of neuroblastomas (up to 40% in high-risk tumors); it is usually seen together with other changes such as 1p deletion and 17q gain. It is considered the strongest prognostic genetic marker in neuroblastoma; the difference in 3-year survival between amplified and non-amplified patients is marked (e.g. 8.3% versus 43.8%).

Method

FISH analysis

Accepted sample types

Peripheral blood, bone marrow (heparin), fresh tumor tissue, FFPE

Description

Prognosis.

Inheritance

A somatic event 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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