Anti-PD-1 elicits regression of undifferentiated pleomorphic sarcomas with UV-mutation signatures

Undifferentiated pleomorphic sarcoma (UPS), an aggressive soft-tissue sarcoma of adults, has been characterized by low tumor mutational burden (TMB) and high copy number alterations. Clinical trials of programmed death-1 (PD-1) blockade in UPS have reported widely varying efficacy. We describe two p...

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Main Authors: Drew M Pardoll, Evan Lipson, John-William Sidhom, Karim Boudadi, Robert Anders, Dung T Le, Luis A Diaz, Nicolas Llosa, Janis Taube, Lingling Chen, Teniola F Oke, Christian F Meyer, Laurene S Cheung, Thomas B Schaffer, Jillian T Ngo, John McMahon Gross, Holly Kemberling
Format: Article
Language:English
Published: BMJ Publishing Group 2021-06-01
Series:Journal for ImmunoTherapy of Cancer
Online Access:https://jitc.bmj.com/content/9/6/e002345.full
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author Drew M Pardoll
Evan Lipson
John-William Sidhom
Karim Boudadi
Robert Anders
Dung T Le
Luis A Diaz
Nicolas Llosa
Janis Taube
Lingling Chen
Teniola F Oke
Christian F Meyer
Laurene S Cheung
Thomas B Schaffer
Jillian T Ngo
John McMahon Gross
Holly Kemberling
author_facet Drew M Pardoll
Evan Lipson
John-William Sidhom
Karim Boudadi
Robert Anders
Dung T Le
Luis A Diaz
Nicolas Llosa
Janis Taube
Lingling Chen
Teniola F Oke
Christian F Meyer
Laurene S Cheung
Thomas B Schaffer
Jillian T Ngo
John McMahon Gross
Holly Kemberling
author_sort Drew M Pardoll
collection DOAJ
description Undifferentiated pleomorphic sarcoma (UPS), an aggressive soft-tissue sarcoma of adults, has been characterized by low tumor mutational burden (TMB) and high copy number alterations. Clinical trials of programmed death-1 (PD-1) blockade in UPS have reported widely varying efficacy. We describe two patients with recurrent scalp UPS that experienced clinical benefit from PD-1 blockade. These tumors had high TMB with a UV-induced mutational pattern. Analysis of additional head and neck UPS cases identified five out of seven tumors with high TMB and an ultraviolet (UV) mutational signature. Head and neck UPS tumors also had increased programmed death-ligand 1 (PD-L1) expression and CD8+ T cell infiltration as compared with UPS tumors arising from other sites. In summary, we found that UPS tumors of the head and neck, but not elsewhere, have a PD-L1+, T-cell-inflamed tumor microenvironment and high TMB, suggesting that these tumors represent a distinct genetic subgroup of UPS for which immune checkpoint inhibitor therapy might be effective.
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series Journal for ImmunoTherapy of Cancer
spelling doaj-art-49dd5e69ccc04ef2b5cc0e561cbddcbd2025-08-20T02:14:27ZengBMJ Publishing GroupJournal for ImmunoTherapy of Cancer2051-14262021-06-019610.1136/jitc-2021-002345Anti-PD-1 elicits regression of undifferentiated pleomorphic sarcomas with UV-mutation signaturesDrew M Pardoll0Evan Lipson1John-William Sidhom2Karim Boudadi3Robert Anders4Dung T Le5Luis A Diaz6Nicolas Llosa7Janis Taube8Lingling Chen9Teniola F Oke10Christian F Meyer11Laurene S Cheung12Thomas B Schaffer13Jillian T Ngo14John McMahon Gross15Holly Kemberling162 Department of Oncology, Johns Hopkins Medicine Sidney Kimmel Comprehensive Cancer Center, Baltimore, Maryland, USA2 Department of Oncology, Johns Hopkins Medicine Sidney Kimmel Comprehensive Cancer Center, Baltimore, Maryland, USA1 Johns Hopkins Bloomberg~Kimmel Institute for Cancer Immunotherapy, Baltimore, Maryland, USA2 Department of Oncology, Johns Hopkins Medicine Sidney Kimmel Comprehensive Cancer Center, Baltimore, Maryland, USA7Sidney Kimmel Cancer Center, Johns Hopkins University, Baltimore, MD, USA2 Department of Oncology, Johns Hopkins Medicine Sidney Kimmel Comprehensive Cancer Center, Baltimore, Maryland, USA5 Division of Solid Tumor Oncology, Memorial Sloan Kettering Cancer Center, New York, New York, USA6Johns Hopkins Medicine, Baltimore, MD, USA4 Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA1 Johns Hopkins Bloomberg~Kimmel Institute for Cancer Immunotherapy, Baltimore, Maryland, USA1 Johns Hopkins Bloomberg~Kimmel Institute for Cancer Immunotherapy, Baltimore, Maryland, USA2 Department of Oncology, Johns Hopkins Medicine Sidney Kimmel Comprehensive Cancer Center, Baltimore, Maryland, USA1 Johns Hopkins Bloomberg~Kimmel Institute for Cancer Immunotherapy, Baltimore, Maryland, USA3 NextCure Inc, Beltsville, Maryland, USA1 Johns Hopkins Bloomberg~Kimmel Institute for Cancer Immunotherapy, Baltimore, Maryland, USA4 Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA2 Department of Oncology, Johns Hopkins Medicine Sidney Kimmel Comprehensive Cancer Center, Baltimore, Maryland, USAUndifferentiated pleomorphic sarcoma (UPS), an aggressive soft-tissue sarcoma of adults, has been characterized by low tumor mutational burden (TMB) and high copy number alterations. Clinical trials of programmed death-1 (PD-1) blockade in UPS have reported widely varying efficacy. We describe two patients with recurrent scalp UPS that experienced clinical benefit from PD-1 blockade. These tumors had high TMB with a UV-induced mutational pattern. Analysis of additional head and neck UPS cases identified five out of seven tumors with high TMB and an ultraviolet (UV) mutational signature. Head and neck UPS tumors also had increased programmed death-ligand 1 (PD-L1) expression and CD8+ T cell infiltration as compared with UPS tumors arising from other sites. In summary, we found that UPS tumors of the head and neck, but not elsewhere, have a PD-L1+, T-cell-inflamed tumor microenvironment and high TMB, suggesting that these tumors represent a distinct genetic subgroup of UPS for which immune checkpoint inhibitor therapy might be effective.https://jitc.bmj.com/content/9/6/e002345.full
spellingShingle Drew M Pardoll
Evan Lipson
John-William Sidhom
Karim Boudadi
Robert Anders
Dung T Le
Luis A Diaz
Nicolas Llosa
Janis Taube
Lingling Chen
Teniola F Oke
Christian F Meyer
Laurene S Cheung
Thomas B Schaffer
Jillian T Ngo
John McMahon Gross
Holly Kemberling
Anti-PD-1 elicits regression of undifferentiated pleomorphic sarcomas with UV-mutation signatures
Journal for ImmunoTherapy of Cancer
title Anti-PD-1 elicits regression of undifferentiated pleomorphic sarcomas with UV-mutation signatures
title_full Anti-PD-1 elicits regression of undifferentiated pleomorphic sarcomas with UV-mutation signatures
title_fullStr Anti-PD-1 elicits regression of undifferentiated pleomorphic sarcomas with UV-mutation signatures
title_full_unstemmed Anti-PD-1 elicits regression of undifferentiated pleomorphic sarcomas with UV-mutation signatures
title_short Anti-PD-1 elicits regression of undifferentiated pleomorphic sarcomas with UV-mutation signatures
title_sort anti pd 1 elicits regression of undifferentiated pleomorphic sarcomas with uv mutation signatures
url https://jitc.bmj.com/content/9/6/e002345.full
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