Definition

This translocation places the anti-apoptotic BCL2 gene at 18q21 under the influence of the IGH promoter, leading to persistent overexpression of the BCL2 protein. It is the molecular diagnostic hallmark detected in approximately 85 to 90% of nodal follicular lymphoma cases. An important caveat: this translocation is not specific to follicular lymphoma, it is found in 20 to 30% of de novo diffuse large B-cell lymphomas, and can also be detected at low levels in the blood/bone marrow of healthy individuals without lymphoma.

Method

FISH analysis

Accepted sample types

Peripheral blood, bone marrow (heparin), lymphoid tissue

Description

Diagnosis and monitoring of NHL.

Inheritance

Somatic; an error arising during V(D)J recombination in germinal center B 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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