Probes: DUPS22-IRF4 gene region at 6p25.3
Disease(s): Anaplastic Large Cell Lymphoma (ALCL), large B-cell lymphoma
Gene rearrangements involving the DUSP22-IRF4 gene region have been reported in CD30-positive, ALK-negative anaplastic large cell lymphoma and are associated with a favorable clinical outcome. Rearrangement has been reported in a subset of patients with lymphomatoid papulosis (LyP). Testing may identify large B-cell lymphoma with IRF4 gene rearrangement, also with favorable outcome.
DUPS22 and IRF4 are adjacent genes at 6p25.3; this test does not identify the gene rearrangement partner. MUM1 is the protein expressed by the IRF4 gene. FISH for IRF4 rearrangements has greater specificity for cutaneous ALCL than MUM1 IHC.
1. Pedersen MB, Hamilton Dutoit SJ, Bendix K, et al. DUSP22 and TP63 rearrangements predict outcome of ALK-negative anaplastic large cell lymphoma: a Danish cohort study. Blood. 2017; 130:554-557.
2. Parrilla Castellar ER, Jaffe ES, Said JS, et al. ALK-negative anaplastic large cell lymphoma is a genetically heterogeneous disease with widely disparate clinical outcomes. Blood. 2014; 124:1473-1480.
3. Wada DA, Law ME, Hsi ED, et al. Specificity of IRF4 translocations for primary cutaneous anaplastic large cell lymphoma: a multicenter study of 204 skin biopsies. Mod Pathol. 2011; 24:596-605.
- Bone Marrow Aspirate: N/A
- Peripheral Blood: N/A
- Fresh, Unfixed Tissue: N/A
- Fluids: N/A
- Paraffin Block: H&E slide (required) plus paraffin block. Circle H&E for tech-only.
- Cut Slides: H&E slide (required) plus 2 unstained slides cut at 4 microns. Circle H&E for tech-only.
Refrigerate specimen. Do not freeze. Use cold pack for transport, making sure cold pack is not in direct contact with specimen.