Clinical immunology (Orlando, Fla.) · 2023
Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease.
Клинический случайСтатьяResearch Support, N.I.H., IntramuralПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Bauman Bradly M, Dorjbal Batsukh, Pittaluga Stefania, Zhang Yu, Niemela Julie E, Stoddard Jennifer L, Rosenzweig Sergio D, Anderson Ronald, Guilcher Gregory M T, Auer Iwona, Perrier Renee, Campbell Martin, Bhandal Samarjeet K, Alba Camille, Sukumar Gauthaman, Dalgard Clifton L, Schelotto Magdalena, Wright Nicola A M, Su Helen C, Snow Andrew L
Аннотация
Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare primary cutaneous non-Hodgkin lymphoma involving CD8+ T cells, the genetic underpinnings of which remain incompletely understood. Here we report two unrelated patients with B cell Expansion with NF-κB and T cell Anergy (BENTA) disease and a novel presentation of SPTCL. Patient 1 presented early in life with recurrent infections and B cell lymphocytosis, linked to a novel gain-of-function (GOF) CARD11 mutation (p.Lys238del). He developed SPTCL-like lesions and membranoproliferative glomerulonephritis by age 2, treated successfully with cyclosporine. Patient 2 presented at 13 months with splenomegaly, lymphadenopathy, and SPTCL with evidence of hemophagocytic lymphohistiocytosis. Genetic analysis revealed two in cis germline GOF CARD11 variants (p.Glu121Asp/p.Gly126Ser). Autologous bone marrow transplant resulted in SPTCL remission despite persistent B cell lymphocytosis. These cases illuminate an unusual pathological manifestation for BENTA disease, suggesting that CARD11 GOF mutations can manifest in cutaneous CD4+and CD8+ T cell malignancies.