{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["George S"],"funding":["Ludwig Center at Harvard","BroadIgnite","Howard Hughes Medical Institute","Alexandra J. Miliotis Pediatric Oncology Research Fund","Catherine England Leiomyosarcoma Research Fund","Howard Hughes Medical Institute Medical Research Fellowship","NCI NIH HHS","Erica Kaitz LMS RESEARCH NOW Fund","NIH","BroadNext10"],"pagination":["197-204"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5408320"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["46(2)"],"pubmed_abstract":["Response to immune checkpoint blockade in mesenchymal tumors is poorly characterized, but immunogenomic dissection of these cancers could inform immunotherapy mediators. We identified a treatment-naive patient who has metastatic uterine leiomyosarcoma and has experienced complete tumor remission for >2 years on anti-PD-1 (pembrolizumab) monotherapy. We analyzed the primary tumor, the sole treatment-resistant metastasis, and germline tissue to explore mechanisms of immunotherapy sensitivity and resistance. Both tumors stained diffusely for PD-L2 and showed sparse PD-L1 staining. PD-1<sup>+</sup> cell infiltration significantly decreased in the resistant tumor (p = 0.039). Genomically, the treatment-resistant tumor uniquely harbored biallelic PTEN loss and had reduced expression of two neoan"],"journal":["Immunity"],"pubmed_title":["Loss of PTEN Is Associated with Resistance to Anti-PD-1 Checkpoint Blockade Therapy in Metastatic Uterine Leiomyosarcoma."],"pmcid":["PMC5408320"],"funding_grant_id":["R01 CA155010","P50CA101942","K08CA188615","P50 CA101942","R01 CA140594","K08 CA188615","R50 CA211482"],"pubmed_authors":["Ott PA","Wong KK","Demetri GD","Lipschitz M","Amin-Mansour A","Hammerman P","Freeman GJ","Miao D","Raut CP","Adeegbe D","Shukla S","Wu CJ","Van Allen EM","George S","Carter SL","Rodig SJ"],"additional_accession":[]},"is_claimable":false,"name":"Loss of PTEN Is Associated with Resistance to Anti-PD-1 Checkpoint Blockade Therapy in Metastatic Uterine Leiomyosarcoma.","description":"Response to immune checkpoint blockade in mesenchymal tumors is poorly characterized, but immunogenomic dissection of these cancers could inform immunotherapy mediators. We identified a treatment-naive patient who has metastatic uterine leiomyosarcoma and has experienced complete tumor remission for >2 years on anti-PD-1 (pembrolizumab) monotherapy. We analyzed the primary tumor, the sole treatment-resistant metastasis, and germline tissue to explore mechanisms of immunotherapy sensitivity and resistance. Both tumors stained diffusely for PD-L2 and showed sparse PD-L1 staining. PD-1<sup>+</sup> cell infiltration significantly decreased in the resistant tumor (p = 0.039). Genomically, the treatment-resistant tumor uniquely harbored biallelic PTEN loss and had reduced expression of two neoan","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Feb","modification":"2026-05-30T08:34:59.453Z","creation":"2019-03-26T23:03:13Z"},"accession":"S-EPMC5408320","cross_references":{"pubmed":["28228279"],"doi":["10.1016/j.immuni.2017.02.001"]}}