Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Japan.
Department of Hematology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Japan.
Intern Med. 2023 Nov 1;62(21):3231-3235. doi: 10.2169/internalmedicine.1419-22. Epub 2023 Mar 15.
We herein report a case of subcutaneous panniculitis-like T-cell lymphoma (SPTCL) resembling adult-onset Still's disease (AOSD). A 40-year-old woman presented with a fever, erythema, and painful subcutaneous nodules on the trunk. Laboratory data and a bone marrow analysis showed hemophagocytic syndrome. Although AOSD was suspected, based on a histopathological evaluation of the erythema, she was diagnosed with SPTCL. She was refractory to combination chemotherapy but achieved durable remission with cyclosporine monotherapy. Genetic testing revealed a homozygous HAVCR2 c.245A>G variant (rs184868814) that had caused NLRP3 inflammasome activation. SPTCL and AOSD share a pathogenesis in terms of NLRP3 inflammasome activation, so the clinical phenotype of SPTCL reasonably mimics AOSD.
我们在此报告一例类似于成人Still 病（AOSD）的皮下脂膜炎样 T 细胞淋巴瘤（SPTCL）。一名 40 岁女性因发热、红斑和躯干疼痛性皮下结节就诊。实验室数据和骨髓分析显示噬血细胞综合征。尽管根据红斑的组织病理学评估怀疑为 AOSD，但她被诊断为 SPTCL。她对联合化疗无反应，但环孢素单药治疗后获得持久缓解。基因检测显示 HAVCR2 c.245A>G 变异（rs184868814）纯合子，导致 NLRP3 炎症小体激活。SPTCL 和 AOSD 在 NLRP3 炎症小体激活方面具有共同的发病机制，因此 SPTCL 的临床表型合理地模拟 AOSD。
