Probes: TP63 (3q28) | TBL1XR1/TP63 [inv(3)(q26q28)]
Disease(s): Anaplastic large cell lymphoma (ALCL), peripheral T-cell lymphoma (PTCL)
Note: Probes are not orderable separately; concurrent analysis is necessary due to proximity of breakpoints in the most common fusion rearrangement.
TP63 gene rearrangements encoding p63 fusion proteins define a subset of ALK-negative anaplastic large cell lymphoma (ALCL) cases and are associated with aggressive course and poor outcome compared to peripheral T-cell lymphoma (PTCL) cases without these rearrangements. This test includes targeted analysis for the TBL1XR1/TP63 fusion, which has also been reported in diffuse large B-cell lymphoma (DLBCL) and follicular lymphoma. Positive results will be reported for this fusion or TP63 gene rearrangement with another partner not identified by this assay.
- 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.
- Pedersen MB et al. DUSP22 and TP63 rearrangements predict outcome of ALK-negative anaplastic large cell lymphoma: a Danish cohort study. Blood. 2017;130:554-557.
- Parrilla Castellar ER et al. ALK-negative anaplastic large cell lymphoma is a genetically heterogeneous disease with widely disparate clinical outcomes. Blood. 2014;124:1473-80.
- Vasmatzis G et al. Genome-wide analysis reveals recurrent structural abnormalities of TP63 and other p53-related genes in peripheral T-cell lymphomas. Blood. 2012;120:2280-2289.
- Scott DW et al. TBL1XR1/TP63: a novel recurrent gene fusion in B-cell non-Hodgkin lymphomas. Blood. 2012;119 4949-4952.