Definition

The immunoglobulin heavy chain (IGH) locus is located at 14q32; in translocations that form the most common group of cytogenetic changes in B-cell lymphomas, the strong transcriptional regulatory elements of IGH drive uncontrolled expression of an oncogene on the partner chromosome. Main partners: CCND1 (t(11;14), mantle cell lymphoma, in about 95% of cases), BCL2 (t(14;18), in 85 to 90% of follicular lymphoma), and MYC (Burkitt lymphoma). The IGH break-apart FISH probe is used to screen for all 14q32 rearrangements without identifying the partner.

Method

FISH analysis

Accepted Sample Types

Bone marrow, Blood (heparin), Lymphoid tissue

Description

CLL, MM, and NHL diagnosis and monitoring.

Inheritance

Somatic; acquired in B-lymphocytes as a result of errors in the V(D)J/class-switch recombination machinery during B-cell maturation.

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Inheritance Patterns

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Carrier (Heterozygous / Homozygous)

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VUS (Variant of Uncertain Significance)

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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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