Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease

Bradly M. Bauman; Batsukh Dorjbal; Stefania Pittaluga; Yu Zhang; Julie E. Niemela; Jennifer L. Stoddard; Sergio D. Rosenzweig; Ronald Anderson; Gregory M.T. Guilcher; Iwona Auer; Renee Perrier; Martin Campbell; Samarjeet K. Bhandal; Camille Alba; Gauthaman Sukumar; Clifton L. Dalgard; Magdalena Schelotto; Nicola A.M. Wright; Helen C. Su; Andrew L. Snow

doi:10.1016/j.clim.2023.109732

Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease

Bradly M. Bauman, Batsukh Dorjbal, Stefania Pittaluga, Yu Zhang, Julie E. Niemela, Jennifer L. Stoddard, Sergio D. Rosenzweig, Ronald Anderson, Gregory M.T. Guilcher, Iwona Auer, Renee Perrier, Martin Campbell, Samarjeet K. Bhandal, Camille Alba, Gauthaman Sukumar, Clifton L. Dalgard, Magdalena Schelotto, Nicola A.M. Wright, Helen C. Su, Andrew L. Snow^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

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.

Original language	English
Article number	109732
Journal	Clinical Immunology
Volume	255
DOIs	https://doi.org/10.1016/j.clim.2023.109732
State	Published - Oct 2023
Externally published	Yes

Keywords

B cell lymphocytosis
BENTA
CARD11
Lobular panniculitis
SPTCL

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10.1016/j.clim.2023.109732

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Bauman, B. M., Dorjbal, B., Pittaluga, S., Zhang, Y., Niemela, J. E., Stoddard, J. L., Rosenzweig, S. D., Anderson, R., Guilcher, G. M. T., Auer, I., Perrier, R., Campbell, M., Bhandal, S. K., Alba, C., Sukumar, G., Dalgard, C. L., Schelotto, M., Wright, N. A. M., Su, H. C., & Snow, A. L. (2023). Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease. Clinical Immunology, 255, Article 109732. https://doi.org/10.1016/j.clim.2023.109732

@article{8a2b4c2acfbd440e9f9b8ad45005b8a0,

title = "Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease",

abstract = "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.",

keywords = "B cell lymphocytosis, BENTA, CARD11, Lobular panniculitis, SPTCL",

author = "Bauman, {Bradly M.} and Batsukh Dorjbal and Stefania Pittaluga and Yu Zhang and Niemela, {Julie E.} and Stoddard, {Jennifer L.} and Rosenzweig, {Sergio D.} and Ronald Anderson and Guilcher, {Gregory M.T.} and Iwona Auer and Renee Perrier and Martin Campbell and Bhandal, {Samarjeet K.} and Camille Alba and Gauthaman Sukumar and Dalgard, {Clifton L.} and Magdalena Schelotto and Wright, {Nicola A.M.} and Su, {Helen C.} and Snow, {Andrew L.}",

note = "Publisher Copyright: {\textcopyright} 2023",

year = "2023",

month = oct,

doi = "10.1016/j.clim.2023.109732",

language = "English",

volume = "255",

journal = "Clinical Immunology",

issn = "1521-6616",

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Bauman, BM, Dorjbal, B, Pittaluga, S, Zhang, Y, Niemela, JE, Stoddard, JL, Rosenzweig, SD, Anderson, R, Guilcher, GMT, Auer, I, Perrier, R, Campbell, M, Bhandal, SK, Alba, C, Sukumar, G, Dalgard, CL, Schelotto, M, Wright, NAM, Su, HC & Snow, AL 2023, 'Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease', Clinical Immunology, vol. 255, 109732. https://doi.org/10.1016/j.clim.2023.109732

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.

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

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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 -

Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease

Abstract

Keywords

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