JAK2, PD-L1, and PD-L2 (9p24.1) amplification in metastatic mucosal and cutaneous melanomas with durable response to immunotherapy Journal Article

   

Authors:	Gupta, S.; Vanderbilt, C. M.; Cotzia, P.; Arias Stella, J. A. 3rd; Chang, J. C.; Chen, Y.; Tang, L. H.; DeLair, D. F.; Yao, J.; Ladanyi, M.; Ross, D. S.
Article Title:	JAK2, PD-L1, and PD-L2 (9p24.1) amplification in metastatic mucosal and cutaneous melanomas with durable response to immunotherapy
Abstract:	As immune checkpoint inhibitors are rapidly developing into the standard of care for patients with advanced melanoma, the value of diagnostic metrics to predict response to immunotherapy is steadily increasing. Next-generation sequencing–based parameters include tumor mutation burden (TMB) and genomic amplification of PD-L1/PD-L2/JAK2 at 9p24.1. At present, there are limited studies documenting response to checkpoint blockade in 9p24.1-amplified solid tumors. Herein, we have compared a cutaneous melanoma with a mucosal melanoma, both with 9p24.1 amplifications and durable response to immunotherapy. Although the cutaneous melanoma had a high TMB, the mucosal melanoma had a lower TMB compared with the mean TMB for all melanomas within the institutional clinical sequencing cohort. In summary, PD-L1/PD-L2/JAK2 amplification was associated with durable response to therapy for both cases, and this genomic signature is a potential valuable metric in predicting response to immunotherapy. © 2018 Elsevier Inc.
Keywords:	immunohistochemistry; clinical article; human tissue; protein expression; aged; janus kinase 2; case report; bone metastasis; cancer radiotherapy; follow up; lymph node metastasis; ultraviolet radiation; cancer immunotherapy; melanoma; gene amplification; chromosome 9p; radiation exposure; liver metastasis; lung metastasis; immunotherapy; liver biopsy; cutaneous melanoma; programmed death 1 ligand 1; metastatic melanoma; pd-l1; jak2; mucosal melanoma; very elderly; human; male; female; article; pembrolizumab; programmed death 1 ligand 2; 9p24.1 amplification; pd-l2
Journal Title:	Human Pathology
Volume:	88
ISSN:	0046-8177
Publisher:	Elsevier Inc.
Date Published:	2019-06-01
Start Page:	87
End Page:	91
Language:	English
DOI:	10.1016/j.humpath.2018.08.032
PUBMED:	30236595
PROVIDER:	scopus
PMCID:	PMC6474830
DOI/URL:	https://www.scopus.com/inward/record.uri?eid=2-s2.0-85063933438&doi=10.1016%2fj.humpath.2018.08.032&partnerID=40&md5=f1291e1984026a0c47b5f563216630b6
Notes:	Article -- Source: Scopus

https://synapse.mskcc.org/synapse/works/has_related_data_chk/147611