{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:30:20Z","timestamp":1787009420645,"version":"build-2736575974"},"reference-count":46,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2023,3,19]],"date-time":"2023-03-19T00:00:00Z","timestamp":1679184000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Applied Cancer Research"},{"name":"Foundation for Clinical"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,4,14]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>DICER1 alterations are associated with intracranial tumors in the pediatric population, including pineoblastoma, pituitary blastoma, and the recently described \u201cprimary DICER1-associated CNS sarcoma\u201d (DCS). DCS is an extremely aggressive tumor with a distinct methylation signature and a high frequency of co-occurring mutations. However, little is known about its treatment approach and the genomic changes occurring after exposure to chemoradiotherapy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We collected clinical, histological, and molecular data from eight young adults with DCS. Genomic analysis was performed by Next-generation Sequencing (NGS). Subsequently, an additional germline variants analysis was completed. In addition, an NGS analysis on post-progression tumor tissue or liquid biopsy was performed when available. Multiple clinicopathological characteristics, treatment variables, and survival outcomes were assessed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Median age was 20 years. Most lesions were supratentorial. Histology was classified as fusiform cell sarcomas (50%), undifferentiated (unclassified) sarcoma (37.5%), and chondrosarcoma (12.5%). Germline pathogenic DICER1 variants were present in two patients, 75% of cases had more than one somatic alteration in DICER1, and the most frequent commutation was TP53. Seven patients were treated with surgery, Ifosfamide, Cisplatin, and Etoposide (ICE) chemotherapy and radiotherapy. The objective response was 75%, and the median time to progression (TTP) was 14.5 months. At progression, the most common mutations were in KRAS and NF1. Overall survival was 30.8 months.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>DCS is an aggressive tumor with limited therapeutic options that requires a comprehensive diagnostic approach, including molecular characterization. Most cases had mutations in TP53, NF1, and PTEN, and most alterations at progression were related to MAPK, RAS and PI3K signaling pathways.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/nop\/npad014","type":"journal-article","created":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T05:47:09Z","timestamp":1678340829000},"page":"381-390","source":"Crossref","is-referenced-by-count":16,"title":["DICER1-associated central nervous system sarcoma: A comprehensive clinical and genomic characterization of case series of young adult patients"],"prefix":"10.1093","volume":"10","author":[{"given":"Andr\u00e9s F","family":"Cardona","sequence":"first","affiliation":[{"name":"Direction of Research, Science and Education, Luis Carlos Sarmiento Angulo Cancer Treatment and Research Center (CTIC) , Bogot\u00e1 , Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1236-8120","authenticated-orcid":false,"given":"Diego Fernando","family":"Chamorro Ortiz","sequence":"additional","affiliation":[{"name":"Foundation for Clinical and Applied Cancer Research, FICMAC , Bogot\u00e1 , Colombia"},{"name":"Molecular Oncology and Biology Systems Research Group (Fox-G), Universidad el Bosque , Bogot\u00e1 , Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Ru\u00edz-Pati\u00f1o","sequence":"additional","affiliation":[{"name":"Foundation for Clinical and Applied Cancer Research, FICMAC , Bogot\u00e1 , Colombia"},{"name":"Molecular Oncology and Biology Systems Research Group (Fox-G), Universidad el Bosque , Bogot\u00e1 , Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Gomez","sequence":"additional","affiliation":[{"name":"Neurosurgery Department, Fundaci\u00f3n Santa Fe de Bogot\u00e1 , Bogot\u00e1 , 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Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Sotelo","sequence":"additional","affiliation":[{"name":"Foundation for Clinical and Applied Cancer Research, FICMAC , Bogot\u00e1 , Colombia"},{"name":"Molecular Oncology and Biology Systems Research Group (Fox-G), Universidad el Bosque , Bogot\u00e1 , Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darwin A","family":"Moreno-P\u00e9rez","sequence":"additional","affiliation":[{"name":"Foundation for Clinical and Applied Cancer Research, FICMAC , Bogot\u00e1 , Colombia"},{"name":"Molecular Oncology and Biology Systems Research Group (Fox-G), Universidad el Bosque , Bogot\u00e1 , Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oscar","family":"Arrieta","sequence":"additional","affiliation":[{"name":"Personalized Oncology Laboratory, National Cancer Institute (INCan) , M\u00e9xico City , 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