TY - JOUR
T1 - Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease
AU - Bauman, Bradly M.
AU - Dorjbal, Batsukh
AU - Pittaluga, Stefania
AU - Zhang, Yu
AU - Niemela, Julie E.
AU - Stoddard, Jennifer L.
AU - Rosenzweig, Sergio D.
AU - Anderson, Ronald
AU - Guilcher, Gregory M.T.
AU - Auer, Iwona
AU - Perrier, Renee
AU - Campbell, Martin
AU - Bhandal, Samarjeet K.
AU - Alba, Camille
AU - Sukumar, Gauthaman
AU - Dalgard, Clifton L.
AU - Schelotto, Magdalena
AU - Wright, Nicola A.M.
AU - Su, Helen C.
AU - Snow, Andrew L.
N1 - Funding Information:
This work was supported by the National Institutes of Health (intramural award to H.C.S.) and the Jeffrey Modell Foundation ( Specific Defect Research Program award to A.L.S.).
Funding Information:
We thank the patients and their families for participating in this research and Helen Matthews for regulatory assistance. This work was supported by grants from the Jeffrey Modell Foundation Specific Defect Research Program (A.L.S.). Y.Z. and H.C.S. are supported by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases , National Institutes of Health . The opinions and assertions expressed herein are those of the authors and are not to be construed as reflecting the views of the Uniformed Services University of the Health Sciences or the United States Department of Defense .
Funding Information:
This work was supported by the National Institutes of Health (intramural award to H.C.S.) and the Jeffrey Modell Foundation (Specific Defect Research Program award to A.L.S.).We thank the patients and their families for participating in this research and Helen Matthews for regulatory assistance. This work was supported by grants from the Jeffrey Modell Foundation Specific Defect Research Program (A.L.S.). Y.Z. and H.C.S. are supported by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health. The opinions and assertions expressed herein are those of the authors and are not to be construed as reflecting the views of the Uniformed Services University of the Health Sciences or the United States Department of Defense.
Publisher Copyright:
© 2023
PY - 2023/10
Y1 - 2023/10
N2 - 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.
AB - 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.
KW - B cell lymphocytosis
KW - BENTA
KW - CARD11
KW - Lobular panniculitis
KW - SPTCL
UR - http://www.scopus.com/inward/record.url?scp=85167627955&partnerID=8YFLogxK
U2 - 10.1016/j.clim.2023.109732
DO - 10.1016/j.clim.2023.109732
M3 - Article
C2 - 37562721
AN - SCOPUS:85167627955
SN - 1521-6616
VL - 255
JO - Clinical Immunology
JF - Clinical Immunology
M1 - 109732
ER -