Scholars@Duke publication: 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.

Publication , Journal Article

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

Published in: J Immunother

July 2022

Published version (DOI) Open Access Copy (Duke) Link to item

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.

Duke Scholars

Author Cameron James Oswalt Medicine, Medical Oncology

Author Rami Nayef Al-Rohil Pathology

Author April Kelly Scott Salama Medicine, Medical Oncology

Author Nicholas Christian DeVito Medicine, Medical Oncology

Author Dennis Ko Molecular Genetics and Microbiology

Author Brent A. Hanks Medicine, Medical Oncology

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Published In

J Immunother

DOI

10.1097/CJI.0000000000000425

EISSN

1537-4513

Publication Date

July 2022

Volume

Issue

Start / End Page

284 / 290

Location

United States

Related Subject Headings

Pyrin
Neoplasms, Second Primary
Melanoma
Immunotherapy
Immunology
Humans
Antineoplastic Agents, Immunological
3211 Oncology and carcinogenesis
3204 Immunology
1107 Immunology

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APA

Chicago

ICMJE

MLA

NLM

Oswalt, C. J., Al-Rohil, R. N., Theivanthiran, B., Haykal, T., Salama, A. K. S., DeVito, N. C., … Hanks, B. A. (2022). Identification of a Germline Pyrin Variant in a Metastatic Melanoma Patient With Multiple Spontaneous Regressions and Immune-related Adverse Events. J Immunother, 45(6), 284–290. https://doi.org/10.1097/CJI.0000000000000425

Oswalt, Cameron J., Rami N. Al-Rohil, Bala Theivanthiran, Tarek Haykal, April K. S. Salama, Nicholas C. DeVito, Alisha Holtzhausen, Dennis C. Ko, and Brent A. Hanks. “Identification of a Germline Pyrin Variant in a Metastatic Melanoma Patient With Multiple Spontaneous Regressions and Immune-related Adverse Events.” J Immunother 45, no. 6 (July 2022): 284–90. https://doi.org/10.1097/CJI.0000000000000425.

Oswalt CJ, Al-Rohil RN, Theivanthiran B, Haykal T, Salama AKS, DeVito NC, et al. Identification of a Germline Pyrin Variant in a Metastatic Melanoma Patient With Multiple Spontaneous Regressions and Immune-related Adverse Events. J Immunother. 2022 Jul;45(6):284–90.

Oswalt, Cameron J., et al. “Identification of a Germline Pyrin Variant in a Metastatic Melanoma Patient With Multiple Spontaneous Regressions and Immune-related Adverse Events.” J Immunother, vol. 45, no. 6, July 2022, pp. 284–90. Pubmed, doi:10.1097/CJI.0000000000000425.

Oswalt CJ, Al-Rohil RN, Theivanthiran B, Haykal T, Salama AKS, DeVito NC, Holtzhausen A, Ko DC, Hanks BA. Identification of a Germline Pyrin Variant in a Metastatic Melanoma Patient With Multiple Spontaneous Regressions and Immune-related Adverse Events. J Immunother. 2022 Jul;45(6):284–290.