{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T04:59:49Z","timestamp":1785387589037,"version":"3.55.0"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T00:00:00Z","timestamp":1785369600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:p>\n                    <jats:italic>DICER1<\/jats:italic>\n                    -mutant primary intracranial sarcoma (\n                    <jats:italic>DICER1<\/jats:italic>\n                    -mutant PIS) is a rare and aggressive central nervous system (CNS) malignancy primarily affecting pediatric patients. We report the case of a 5.5-year-old boy who presented with non-specific prodromal symptoms, including recurrent dizziness and progressive vomiting. Brain neuroimaging revealed a cystic-solid mass in the frontal lobe, characterized by heterogeneous contrast enhancement, significant perilesional edema, and intratumoral hemorrhage. Histopathological examination of the tumor demonstrated marked cellular pleomorphism, atypical mitoses, and distinctive intracytoplasmic eosinophilic globules. Next-generation sequencing confirmed the presence of the canonical hotspot\n                    <jats:italic>DICER1<\/jats:italic>\n                    p.E1705K alteration, along with concurrent pathogenic mutations in\n                    <jats:italic>TP53<\/jats:italic>\n                    ,\n                    <jats:italic>PDGFRA<\/jats:italic>\n                    , and\n                    <jats:italic>KEAP1<\/jats:italic>\n                    . Additionally, somatic\n                    <jats:italic>SMARCB1<\/jats:italic>\n                    allelic loss due to loss of heterozygosity was identified. Due to its insidious clinical presentation and overlapping morphological characteristics,\n                    <jats:italic>DICER1<\/jats:italic>\n                    -mutant PIS is often challenging to diagnose accurately, and no standardized therapeutic guidelines currently exist. The patient underwent subtotal surgical resection followed by adjuvant chemoradiotherapy. However, intracranial disease progression and the development of new metastatic lesions were observed during long-term follow-up. This case underscores the critical importance of prompt and definitive molecular diagnosis, individualized multidisciplinary treatment approaches, and extended regular surveillance for this high-grade malignancy. It provides valuable real-world evidence that can inform the clinical management of similar rare\n                    <jats:italic>DICER1<\/jats:italic>\n                    -mutant PIS cases.\n                  <\/jats:p>","DOI":"10.3389\/fonc.2026.1907304","type":"journal-article","created":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T04:22:00Z","timestamp":1785385320000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: DICER1-mutant primary intracranial sarcoma with concurrent TP53, PDGFRA, and KEAP1 somatic mutations in a 5.5-year-old boy"],"prefix":"10.3389","volume":"16","author":[{"given":"Hongfang","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Pathology, Kunming Children's Hospital","place":["Kunming, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Pathology, Kunming Children's Hospital","place":["Kunming, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengze","family":"Wang","sequence":"additional","affiliation":[{"name":"Neurosurgery Department, Kunming Children's Hospital","place":["Kunming, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Lv","sequence":"additional","affiliation":[{"name":"Department of Pathology, Kunming Children's Hospital","place":["Kunming, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuangqiong","family":"Pu","sequence":"additional","affiliation":[{"name":"Department of Pathology, Kunming Children's Hospital","place":["Kunming, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yucheng","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Pathology, Kunming Children's Hospital","place":["Kunming, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,7,30]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.3171\/2022.6.PEDS22119","article-title":"A systematic review of the clinicopathological features and prognostic outcomes of DICER1-mutant Malignant brain neoplasms","volume":"30","author":"Vuong","year":"2022","journal-title":"J Neurosurg Pediatr"},{"key":"B2","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1002\/cncr.33977","article-title":"Primary central nervous system sarcoma with DICER1 mutation-treatment results of a novel molecular entity in pediatric Peruvian patients","volume":"128","author":"Diaz Coronado","year":"2022","journal-title":"Cancer"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(96)70393-1","article-title":"Pleuropulmonary blastoma: a marker for familial disease","volume":"128","author":"Priest","year":"1996","journal-title":"J Pediatr"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-018-1871-6","article-title":"Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations","volume":"136","author":"Koelsche","year":"2018","journal-title":"Acta Neuropathol"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-019-01960-x","article-title":"Primary intracranial sarcomas with DICER1 mutation often contain prominent eosinophilic cytoplasmic globules and can occur in the setting of neurofibromatosis type 1","volume":"137","author":"Lee","year":"2019","journal-title":"Acta Neuropathol"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1016\/j.patol.2025.100839","article-title":"Non-meningothelial mesenchymal tumours of the CNS in the diagnostic practice of the pathologist","volume":"58","author":"Latorre Rodriguez","year":"2025","journal-title":"Rev Esp Patol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"1677","DOI":"10.1038\/s41467-023-37092-w","article-title":"Genomic characterization of DICER1-associated neoplasms uncovers molecular classes","volume":"14","author":"Kommoss","year":"2023","journal-title":"Nat Commun"},{"key":"B8","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1136\/jclinpath-2020-207203","article-title":"Gene of the month: DICER1: ruler and controller","volume":"74","author":"Thunders","year":"2021","journal-title":"J Clin Pathol"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1002\/path.4135","article-title":"Cancer-associated somatic DICER1 hotspot mutations cause defective miRNA processing and reverse-strand expression bias to predominantly mature 3p strands through loss of 5p strand cleavage","volume":"229","author":"Anglesio","year":"2013","journal-title":"J Pathol"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2024.105632","article-title":"TRPS1 expression in MPNST is correlated with PRC2 inactivation and loss of H3K27me3","volume":"151","author":"Lazcano","year":"2024","journal-title":"Hum Pathol"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1093\/nop\/npad014","article-title":"DICER1-associated central nervous system sarcoma: A comprehensive clinical and genomic characterization of case series of young adult patients","volume":"10","author":"Cardona","year":"2023","journal-title":"Neuro-Oncol Pract"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(20)30269-2","article-title":"Avapritinib in advanced PDGFRA D842V-mutant gastrointestinal stromal tumour (NAVIGATOR): a multicentre, open-label, phase 1 trial","volume":"21","author":"Heinrich","year":"2020","journal-title":"Lancet Oncol"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1038\/s41379-020-0516-1","article-title":"DICER1-associated central nervous system sarcoma in children: comprehensive clinicopathologic and genetic analysis of a newly described rare tumor","volume":"33","author":"Kamihara","year":"2020","journal-title":"Mod Pathol"},{"key":"B14","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1038\/s41698-025-01026-0","article-title":"RAS pathway targeted therapy in patients with DICER1-associated sarcomas","volume":"9","author":"Zhang","year":"2025","journal-title":"NPJ Precis Oncol"}],"container-title":["Frontiers in Oncology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2026.1907304\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T04:22:02Z","timestamp":1785385322000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2026.1907304\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,30]]},"references-count":14,"alternative-id":["10.3389\/fonc.2026.1907304"],"URL":"https:\/\/doi.org\/10.3389\/fonc.2026.1907304","relation":{},"ISSN":["2234-943X"],"issn-type":[{"value":"2234-943X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,30]]},"article-number":"1907304"}}