Identification of a Germline Pyrin Variant in a Metastatic Melanoma Patient With Multiple Spontaneous Regressions and Immune-related Adverse Events.
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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.
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Oswalt, Cameron J, Rami N Al-Rohil, Bala Theivanthiran, Tarek Haykal, April KS Salama, Nicholas C DeVito, Alisha Holtzhausen, Dennis C Ko, et al. (2022). Identification of a Germline Pyrin Variant in a Metastatic Melanoma Patient With Multiple Spontaneous Regressions and Immune-related Adverse Events. Journal of immunotherapy (Hagerstown, Md. : 1997), 45(6). pp. 284–290. 10.1097/cji.0000000000000425 Retrieved from https://hdl.handle.net/10161/26401.
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I am dermatopathologist with special interest in melanocytic pathology (including molecular alterations and tests that aid in predicting their biologic behavior), and soft tissue pathology
I am an Assistant Professor of Medical Oncology who primarily treats patients with colon cancer and gastroesophageal cancers. My laboratory and translational research is focused on tumor immune evasion and immunotherapy, particularly in the setting of metastasis. This work has led to a specific interest in tumor-mediated development of dendritic cell tolerance and suppressive myeloid populations. The ultimate goal of this research is to create biomarker-directed immunotherapies for advanced gastrointestinal cancers.
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