{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T16:04:40Z","timestamp":1790611480954,"version":"4.1.0"},"reference-count":0,"publisher":"Bioscientifica","issue":"10","content-domain":{"domain":["erc.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,10,1]]},"abstract":"<jats:p>\n                    Despite recent advances in elucidating molecular pathways underlying adrenocortical carcinoma (ACC), this orphan malignancy is associated with poor survival. Identification of targetable genomic alterations is critical to improve outcomes. The objective of this study was to characterize the genomic profile of a large cohort of patient ACC samples to identify actionable genomic alterations. Three hundred sixty-four individual patient ACC tumors were analyzed. The median age of the cohort was 52 years and 60.9% (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009222) were female. ACC samples had common alterations in epigenetic pathways with 38% of tumors carrying alterations in genes involved in histone modification, 21% in telomere lengthening, and 21% in SWI\/SNF complex. Tumor suppressor genes and WNT signaling pathway were each mutated in 51% of tumors. Fifty (13.7%) ACC tumors had a genomic alteration in genes involved in the DNA mismatch repair (MMR) pathway with many tumors also displaying an unusually high number of mutations and a corresponding MMR mutation signature. In addition, genomic alterations in several genes not previously associated with ACC were observed, including\n                    <jats:italic>IL7R, LRP1B, FRS2<\/jats:italic>\n                    mutated in 6, 8 and 4% of tumors, respectively. In total, 58.5% of ACC (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009213) had at least one potentially actionable genomic alteration in 46 different genes. As more than half of ACC have one or more potentially actionable genomic alterations, this highlights the value of targeted sequencing for this orphan cancer with a poor prognosis. In addition, significant incidence of MMR gene alterations suggests that immunotherapy is a promising therapeutic for a considerable subset of ACC patients.\n                  <\/jats:p>","DOI":"10.1530\/erc-21-0040","type":"journal-article","created":{"date-parts":[[2021,8,19]],"date-time":"2021-08-19T09:03:00Z","timestamp":1629363780000},"page":"671-681","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-8","source":"Crossref","is-referenced-by-count":30,"title":["Targeted genomic analysis of 364 adrenocortical carcinomas"],"prefix":"10.1530","volume":"28","author":[{"given":"Nikita","family":"Pozdeyev","sequence":"first","affiliation":[{"name":"1Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA"},{"name":"2Division of Biomedical Informatics & Personalized Medicine, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Fishbein","sequence":"additional","affiliation":[{"name":"1Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA"},{"name":"2Division of Biomedical Informatics & Personalized Medicine, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurie M","family":"Gay","sequence":"additional","affiliation":[{"name":"3Foundation Medicine Inc., Cambridge, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ethan S","family":"Sokol","sequence":"additional","affiliation":[{"name":"3Foundation Medicine Inc., Cambridge, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan","family":"Hartmaier","sequence":"additional","affiliation":[{"name":"3Foundation Medicine Inc., Cambridge, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey S","family":"Ross","sequence":"additional","affiliation":[{"name":"3Foundation Medicine Inc., Cambridge, Massachusetts, USA"},{"name":"4Departments of Pathology and Urology, Upstate Medical University, Syracuse, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sourat","family":"Darabi","sequence":"additional","affiliation":[{"name":"5Hoag Family Center Institute, Newport Beach, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J","family":"Demeure","sequence":"additional","affiliation":[{"name":"5Hoag Family Center Institute, Newport Beach, California, USA"},{"name":"6Translational Genomics Research Institute, Phoenix, Arizona, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adwitiya","family":"Kar","sequence":"additional","affiliation":[{"name":"1Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsey J","family":"Foust","sequence":"additional","affiliation":[{"name":"1Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrina","family":"Koc","sequence":"additional","affiliation":[{"name":"1Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel W","family":"Bowles","sequence":"additional","affiliation":[{"name":"7Division of Medical Oncology, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus, Aurora, Colorado, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Leong","sequence":"additional","affiliation":[{"name":"7Division of Medical Oncology, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus, Aurora, Colorado, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret E","family":"Wierman","sequence":"additional","affiliation":[{"name":"1Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA"},{"name":"8Research Service Veterans Affairs Medical Center, Aurora, Colorado, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Kiseljak-Vassiliades","sequence":"additional","affiliation":[{"name":"1Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA"},{"name":"8Research Service Veterans Affairs Medical Center, Aurora, Colorado, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","container-title":["Endocrine-Related Cancer"],"original-title":[],"link":[{"URL":"https:\/\/erc.bioscientifica.com\/view\/journals\/erc\/28\/10\/ERC-21-0040.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/erc.bioscientifica.com\/downloadpdf\/journals\/erc\/28\/10\/ERC-21-0040.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:55:58Z","timestamp":1784555758000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/erc\/article\/28\/10\/671-681\/25506"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,1]]},"references-count":0,"journal-issue":{"issue":"10"},"URL":"https:\/\/doi.org\/10.1530\/erc-21-0040","relation":{},"ISSN":["1351-0088","1479-6821"],"issn-type":[{"value":"1351-0088","type":"print"},{"value":"1479-6821","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,1]]}}}