Definition

The t(11;18)(q21;q21) translocation fuses the BIRC3 (API2) gene with MALT1, forming a fusion protein that permanently activates the NF-kB pathway; it is the most common specific chromosomal anomaly, seen in about 25% of MALT lymphomas. In positive patients, progression-free survival is markedly shortened (26% versus 57% at 10 years), and it is strongly associated with resistance to H. pylori eradication therapy in gastric MALT lymphoma.

Method

FISH analysis

Accepted Sample Types

Bone marrow, Blood (heparin), Lymphoid tissue

Description

MALT lymphoma and NHL diagnosis and monitoring.

Inheritance

Somatic; a translocation acquired during lymphoma development, not 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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