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

Published by Elsevier Inc.

Bibliographische Detailangaben
Veröffentlicht in:	Clinical immunology (Orlando, Fla.). - 1999. - 255(2023) vom: 01. Okt., Seite 109732
1. Verfasser:	Bauman, Bradly M (VerfasserIn)
Weitere Verfasser:	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
Format:	Online-Aufsatz
Sprache:	English
Veröffentlicht:	2023
Zugriff auf das übergeordnete Werk:	Clinical immunology (Orlando, Fla.)
Schlagworte:	Case Reports Journal Article Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't B cell lymphocytosis BENTA CARD11 Lobular panniculitis SPTCL

Beschreibung
Zusammenfassung:	Published by Elsevier Inc. 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
Beschreibung:	Date Completed 09.10.2023 Date Revised 16.10.2023 published: Print-Electronic Citation Status MEDLINE
ISSN:	1521-7035
DOI:	10.1016/j.clim.2023.109732