{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T10:30:53Z","timestamp":1787740253578,"version":"build-2784847793"},"reference-count":48,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2021,9,26]],"date-time":"2021-09-26T00:00:00Z","timestamp":1632614400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>We performed a retrospective analysis of angiosarcoma (AS) genomic biomarkers and their associations with the site of origin in a cohort of 143 cases. Primary sites were head and neck (31%), breast (22%), extremity (11%), viscera (20%), skin at other locations (8%), and unknown (9%). All cases had Next Generation Sequencing (NGS) data with a 592 gene panel, and 53 cases had Whole Exome Sequencing (WES) data, which we used to study the microenvironment phenotype. The immunotherapy (IO) response biomarkers Tumor Mutation Burden (TMB), Microsatellite Instability (MSI), and PD-L1 status were the most frequently encountered alteration, present in 36.4% of the cohort and 65% of head and neck AS (H\/N-AS) (p &lt; 0.0001). In H\/N-AS, TMB-High was seen in 63.4% of cases (p &lt; 0.0001) and PDL-1 positivity in 33% of cases. The most common genetic alterations were TP53 (29%), MYC amplification (23%), ARID1A (17%), POT1 (16%), and ATRX (13%). H\/N-AS cases had predominantly mutations in TP53 (50.0%, p = 0.0004), POT1 (40.5%, p &lt; 0.0001), and ARID1A (33.3%, p = 0.5875). In breast AS, leading alterations were MYC amplification (63.3%, p &lt; 0.0001), HRAS (16.1%, p = 0.0377), and PIK3CA (16.1%, p = 0.2352). At other sites, conclusions are difficult to generate due to the small number of cases. A microenvironment with a high immune signature, previously associated with IO response, was evenly distributed in 13% of the cases at different primary sites. Our findings can facilitate the design and optimization of therapeutic strategies for AS.<\/jats:p>","DOI":"10.3390\/cancers13194816","type":"journal-article","created":{"date-parts":[[2021,9,27]],"date-time":"2021-09-27T01:59:47Z","timestamp":1632707987000},"page":"4816","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":54,"title":["Genomic Landscape of Angiosarcoma: A Targeted and Immunotherapy Biomarker Analysis"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9903-0864","authenticated-orcid":false,"given":"Andrea","family":"Espejo Freire","sequence":"first","affiliation":[{"name":"Department of Medicine, Hematology & Oncology, Sylvester Comprehensive Cancer Center, Jackson Memorial Hospital, Miller School of Medicine, University of Miami, Miami, FL 33136, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Elliott","sequence":"additional","affiliation":[{"name":"Department of Clinical and Translational Research, Caris Life Sciences, Phoenix, AZ 85040, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Rosenberg","sequence":"additional","affiliation":[{"name":"Department of Pathology, Sylvester Comprehensive Cancer Center, Jackson Memorial Hospital, Miller School of Medicine, University of Miami, Miami, FL 33136, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9681-0515","authenticated-orcid":false,"given":"Philippos","family":"Costa","sequence":"additional","affiliation":[{"name":"Department of Medicine, Hematology & Oncology, Sylvester Comprehensive Cancer Center, Jackson Memorial Hospital, Miller School of Medicine, University of Miami, Miami, FL 33136, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priscila","family":"Barreto-Coelho","sequence":"additional","affiliation":[{"name":"Department of Medicine, Hematology & Oncology, Sylvester Comprehensive Cancer Center, Jackson Memorial Hospital, Miller School of Medicine, University of Miami, Miami, FL 33136, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0983-8016","authenticated-orcid":false,"given":"Emily","family":"Jonczak","sequence":"additional","affiliation":[{"name":"Department of Medicine, Hematology & Oncology, Sylvester Comprehensive Cancer Center, Jackson Memorial Hospital, Miller School of Medicine, University of Miami, Miami, FL 33136, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gina","family":"D\u2019Amato","sequence":"additional","affiliation":[{"name":"Department of Medicine, Hematology & Oncology, Sylvester Comprehensive Cancer Center, Jackson Memorial Hospital, Miller School of Medicine, University of Miami, Miami, FL 33136, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ty","family":"Subhawong","sequence":"additional","affiliation":[{"name":"Department of Radiology, Sylvester Comprehensive Cancer Center, Jackson Memorial Hospital, Miller School of Medicine, University of Miami, Miami, FL 33136, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6576-3971","authenticated-orcid":false,"given":"Junaid","family":"Arshad","sequence":"additional","affiliation":[{"name":"Department of Medicine, Medical Oncology, The University of Arizona College of Medicine, University of Arizona Cancer Center, Tucson, AZ 85724, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julio","family":"Diaz-Perez","sequence":"additional","affiliation":[{"name":"Department of Pathology, Sylvester Comprehensive Cancer Center, Jackson Memorial Hospital, Miller School of Medicine, University of Miami, Miami, FL 33136, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Korn","sequence":"additional","affiliation":[{"name":"Department of Medical Affairs, Caris Life Sciences, Phoenix, AZ 85040, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6419-2513","authenticated-orcid":false,"given":"Matthew","family":"Oberley","sequence":"additional","affiliation":[{"name":"Department of Pathology and Genetics, Caris Life Sciences, Phoenix, AZ 85040, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Magee","sequence":"additional","affiliation":[{"name":"Department of Cognitive Computing, Caris Life Sciences, Phoenix, AZ 85040, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Don","family":"Dizon","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology and Gynecologic Medical Oncology, Lifespan Cancer Institute, Rode Island Hospital, Providence, RI 02903, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6158-890X","authenticated-orcid":false,"given":"Margaret","family":"von Mehren","sequence":"additional","affiliation":[{"name":"Department of Hematology & Oncology, Fox Chase Cancer Center, Temple Health, Philadelphia, PA 19111, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3095-5073","authenticated-orcid":false,"given":"Moh\u2019d","family":"Khushman","sequence":"additional","affiliation":[{"name":"O\u2019Neal Comprehensive Cancer Center, Department of Medicine, Hematology & Oncology, The University of Alabama at Birmingham, Birmingham, AL 35233, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atif","family":"Hussein","sequence":"additional","affiliation":[{"name":"Department of Hematology & Oncology, Memorial Health Care System, Memorial Cancer Institute, Hollywood, FL 33021, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsten","family":"Leu","sequence":"additional","affiliation":[{"name":"Medical Oncology, Nebraska Cancer Specialists, Omaha, NE 68114, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6169-5238","authenticated-orcid":false,"given":"Jonathan","family":"Trent","sequence":"additional","affiliation":[{"name":"Department of Medicine, Hematology & Oncology, Sylvester Comprehensive Cancer Center, Jackson Memorial Hospital, Miller School of Medicine, University of Miami, Miami, FL 33136, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,9,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Ducimeti\u00e8re, F., Lurkin, A., Ranch\u00e8re-Vince, D., Decouvelaere, A.-V., Peoc\u2019H, M., Istier, L., Chalabreysse, P., Muller, C., Alberti, L., and Bringuier, P.-P. 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