Identification of a Germline Pyrin Variant in a Metastatic Melanoma Patient With Multiple Spontaneous Regressions and Immune-related Adverse Events.
Identification of a Germline Pyrin Variant in a Metastatic Melanoma Patient With Multiple Spontaneous Regressions and Immune-related Adverse Events.
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一例转移性黑色素瘤患者多次自发消退和免疫相关不良事件的胚系吡喃变异体的鉴定。
DOI：
10.1097/cji.0000000000000425
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发表时间：
2022-07-01
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肿瘤免疫监测的机制及其与检查点抑制免疫疗法相关的免疫相关不良事件(IrAEs)的关系仍不清楚。我们描述了一例转移性黑色素瘤患者，在抗程序性细胞死亡蛋白1抗体免疫治疗过程中，表现出多次自发性疾病消退，随后出现几个irAEs。下一代全外显子组测序研究显示，该患者存在一种以前被描述为与家族性地中海热的非典型表现有关的比林炎症体变异。这项工作强调了炎性小体在调节肿瘤免疫监视和irAEs发病机制中的潜在作用。
The mechanisms underlying tumor immunosurveillance and their association with the immune-related adverse events (irAEs) associated with checkpoint inhibitor immunotherapies remain poorly understood. We describe a metastatic melanoma patient exhibiting multiple episodes of spontaneous disease regression followed by the development of several irAEs during the course of anti–programmed cell death protein 1 antibody immunotherapy. Whole-exome next-generation sequencing studies revealed this patient to harbor a pyrin inflammasome variant previously described to be associated with an atypical presentation of familial Mediterranean fever. This work highlights a potential role for inflammasomes in the regulation of tumor immunosurveillance and the pathogenesis of irAEs.