Identification of a Germline Pyrin Variant in a Metastatic Melanoma Patient With Multiple Spontaneous Regressions and Immune-related Adverse Events.
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.
Type
Journal articleSubject
HumansMelanoma
Neoplasms, Second Primary
Immunotherapy
Pyrin
Antineoplastic Agents, Immunological
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https://hdl.handle.net/10161/26401Published Version (Please cite this version)
10.1097/cji.0000000000000425Publication Info
Oswalt, Cameron J; Al-Rohil, Rami N; Theivanthiran, Bala; Haykal, Tarek; Salama, April
KS; DeVito, Nicholas C; ... Hanks, Brent A (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.This is constructed from limited available data and may be imprecise. To cite this
article, please review & use the official citation provided by the journal.
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Show full item recordScholars@Duke
Rami Nayef Al-Rohil
Associate Professor of Pathology
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
Nicholas Christian DeVito
Assistant Professor of Medicine
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 gast
Brent A. Hanks
Associate Professor of Medicine
We are interested in understanding the mechanisms that cancers have evolved to suppress
the generation of tumor antigen-specific immune responses and how this knowledge can
be exploited for the development of novel and more effective cancer immunotherapy
strategies. This work involves the utilization of both autochthonous transgenic tumor
model systems as well as clinical specimens to develop novel strategies to enhance
the efficacy of immunotherapies while also developing predictive biomarkers
Dennis Ko
Associate Professor in Molecular Genetics and Microbiology
Using Pathogens to Decipher Genetic Variation Connecting Cell Biology and Disease
SusceptibilityDespite improvements in public health, advancements in vaccines, and
the development of many classes of antibiotics, infectious disease is still responsible
for over a quarter of all deaths worldwide. However, even for the most devastating
of pandemics, individuals demonstrate a large variability in the severity of infection.
The long-term goal of the lab is to understand the ge
April Kelly Scott Salama
Associate Professor of Medicine
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