Identification of a Germline Pyrin Variant in a Metastatic Melanoma Patient With Multiple Spontaneous Regressions and Immune-related Adverse Events.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Oswalt, CJ; Al-Rohil, RN; Theivanthiran, B; Haykal, T; Salama, AKS; DeVito, NC; Holtzhausen, A; Ko, DC; Hanks, BA

Published Date

  • July 2022

Published In

Volume / Issue

  • 45 / 6

Start / End Page

  • 284 - 290

PubMed ID

  • 35621992

Pubmed Central ID

  • PMC9172893

Electronic International Standard Serial Number (EISSN)

  • 1537-4513

Digital Object Identifier (DOI)

  • 10.1097/CJI.0000000000000425


  • eng

Conference Location

  • United States