- Gene affected:
- Interferon regulatory factor 4 (also commonly known as MUM-1)
- Clinical significance
- IRF4 is overexpressed in a range of lymphoid malignancies in the absence of direct mutation. Specific genetic changes are also recognised:
- Chromosomal translocations involving IRF4 are infrequent, but when present bring the gene together with the immunoglobulin heavy or light chain promotors causing overexpression. This is particularly seen in myeloma with t(6;14)(p25;q32), and in a subtype of paediatric and young adult DLBL (described as a distinct subtype in WHO 2016).
- Direct mutations may cause IRF4 activation in ATLL, while a broad spectrum of changes are seen in other lymphoid disorders (and other cancers) whose effects variously include missense mutations, nonsense mutations, and silent mutations.
Function of gene
IRF4 is part of the interferon regulatory factor family of transcription factors that typically form part of the response to infection by virus. IRF4 is lymphocyte specific, and is important in the innate and adaptive immune systems where it controls B cell and T cell development
NGS panel gene coverage
The panel covers the full coding sequence. Chr 6p25.3
Occurrence and significance
High expression is very frequent in lymphoid disorders (particularly myeloma), and in many disorders IRF4 is essential to malignant function (IRF4 addiction). However, only a proportion have a mutation.
- GeneWiki link:
- 2. In ATLL
- 3. In myeloma