Recurrent SWI/SNF Deficiency Defines a Subset of Peripheral T-cell Lymphoma With Distinct Clinicopathologic Features - PubMed
4 hours ago
- #Pediatric oncology
- #Peripheral T-cell lymphoma
- #SWI/SNF deficiency
- Recurrent SWI/SNF deficiency, particularly SMARCB1/INI1 loss, defines a distinct subset of pediatric and young adult peripheral T-cell lymphoma, not otherwise specified (PTCL, NOS).
- SWI/SNF-deficient cases exhibit distinct clinicopathologic features, including intermediate-to-large cell morphology, high mitotic/apoptotic activity, Reed-Sternberg-like cells, necrosis, fibrosis, and frequent CD4+/CD8- TCRab PTCL-GATA3 phenotype with loss of pan-T-cell antigens.
- SWI/SNF-intact cases are more often CD8+/CD4- TCRgd PTCL-TBX21 phenotype and harbor different genetic alterations (e.g., TET2, PTEN, EZH2, TP53).
- Clinical outcomes show a trend toward longer median overall and event-free survival in SWI/SNF-deficient groups compared to SWI/SNF-intact groups, though not statistically significant, with lower disease/treatment-related death in the deficient group.