Definition

This translocation affects two genes at once: the FGFR3 gene is relocated to 14q32 and becomes overexpressed under the influence of the IGH enhancer, while the MMSET/NSD2 gene remaining at 4p16 also becomes overexpressed. It is seen in 11 to 15% of newly diagnosed myeloma patients, making it the second most common IGH translocation, and is considered high-risk disease across all risk classification systems.

Method

FISH analysis

Accepted sample types

Peripheral blood, bone marrow (heparin), blood (heparin)

Description

Diagnosis and monitoring of MM.

Inheritance

Somatic; MMSET/NSD2 overexpression is considered more critical to pathogenesis than FGFR3, and the location of the breakpoint can lead to differences in survival.

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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