Definition

This translocation places the CCND1 (cyclin D1) gene at 11q13 next to the strong IGH enhancer region at 14q32, leading to pathological overexpression of cyclin D1. It is the molecular diagnostic hallmark of mantle cell lymphoma and is also one of the most common IGH translocations in multiple myeloma (15 to 20%). In myeloma, patients carrying this translocation have high BCL2 protein levels, which have been associated with response to venetoclax therapy.

Method

FISH analysis

Accepted sample types

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

Description

Diagnosis and monitoring of CLL, MM and NHL.

Inheritance

Somatic; it arises in tumor cells as a result of an error in V(D)J or class-switch recombination during B-lymphocyte maturation, and is not hereditary.

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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