Identification of a Germline Pyrin Variant in a Metastatic Melanoma Patient With Multiple Spontaneous Regressions and Immune-related Adverse Events. Issue 6 (30th July 2022)

• Record Type: Journal Article
• Authors: Oswalt, Cameron J.; Al-Rohil, Rami N.; Theivanthiran, Bala; Haykal, Tarek; Salama, April K.S.; DeVito, Nicholas C.; Holtzhausen, Alisha; Ko, Dennis C.; Hanks, Brent A.
• Is Part Of: Journal of immunotherapy. Volume 45:Issue 6(2022)
• Page Start: 284
• Page End: 290
• Publication Date: 2022-07-30
• Subjects: melanoma -- immune-related adverse events -- pyrin -- inflammasome -- spontaneous regression -- checkpoint inhibitor immunotherapy -- familial Mediterranean fever; Immunotherapy -- Periodicals; Immunotherapy -- Periodicals; Neoplasms -- therapy -- Periodicals; Electronic journals; Electronic journals; 615.37
• DOI: 10.1097/CJI.0000000000000425
• Languages: English
• ISSNs: 1524-9557

Abstract

Abstract : 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.