{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T10:23:28Z","timestamp":1782383008210,"version":"3.54.5"},"reference-count":70,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T00:00:00Z","timestamp":1745971200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Deutsche Krebshilfe (Max-Eder Grant)"},{"name":"Else Kr\u00f6ner Fresenius Stiftung"},{"name":"Konrad Adenauer Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>DICER1 tumor predisposition syndrome is a genetic condition that increases the risk of developing certain cancer types. While thyroid tumors are the main tumors caused by this condition in adult oncology, children and adolescents with DICER1 germline mutations may suffer from a broader spectrum of tumors, including Sertoli-Leydig cell tumors, pleuropulmonary blastomas, embryonal rhabdomyosarcomas, and pineoblastomas. Although these diseases\u2014many of which are hallmark tumors of DICER1 syndrome and rarely occur sporadically\u2014have been known for several years, the more recent identification of DICER1 mutations in embryonal tumors with multilayered rosettes (ETMR) and DICER1-associated intra- and extracranial sarcomas has expanded the spectrum of tumor types potentially linked to DICER1 syndrome. This review sought to investigate the presence and characteristics of DICER1 mutations in rare CNS tumors and to discuss their potential implications for early recognition of DICER1-related syndromes. To address this, we conducted a comprehensive systematic literature review and analyzed data from our nationwide German database (CNS-InterREST) regarding these entities. When present, DICER1 mutation status, mutation type (somatic vs. germline), and localization within the gene were recorded. Demographic and clinical data\u2014including age at diagnosis and tumor localization\u2014were also evaluated where available. We found that the prevalence of DICER1 mutations in the cohort of ETMR patients included in the CNS-InterREST study was exceedingly low (1\/31). The distribution of DICER1 mutations in patients with ETMR or intracranial sarcomas is comparable to that in other previously identified DICER1-mutant tumors. Our literature review demonstrates that within the 248 cases, which include three intracranial DICER1-mutated neoplasias and one reference group, most somatic mutations accumulate in the RNase IIIb domain, while germline mutations are usually evenly distributed throughout the gene. Overall, further research is necessary to unravel the cell-of-origin of the respective tumor types and whether other, hitherto undescribed, genetic factors may contribute to the development of ETMR and DICER1-associated intracranial sarcomas.<\/jats:p>","DOI":"10.3390\/cancers17091513","type":"journal-article","created":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T05:05:57Z","timestamp":1745989557000},"page":"1513","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["DICER1 Mutational Spectrum in Intracranial CNS-Neoplasias\u2014A Review and a Report from the CNS-InterREST GPOH Study Center"],"prefix":"10.3390","volume":"17","author":[{"given":"Selma","family":"Manea","sequence":"first","affiliation":[{"name":"Pediatrics and Adolescent Medicine, Swabian Children\u2019s Cancer Center, University Hospital Augsburg, 86156 Augsburg, Germany"},{"name":"Bavarian Cancer Research Center (BZKF), 85156 Augsburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7488-6885","authenticated-orcid":false,"given":"Victoria E.","family":"Fincke","sequence":"additional","affiliation":[{"name":"Pediatrics and Adolescent Medicine, Swabian Children\u2019s Cancer Center, University Hospital Augsburg, 86156 Augsburg, Germany"},{"name":"Bavarian Cancer Research Center (BZKF), 85156 Augsburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8237-1854","authenticated-orcid":false,"given":"Michael C.","family":"Fr\u00fchwald","sequence":"additional","affiliation":[{"name":"Pediatrics and Adolescent Medicine, Swabian Children\u2019s Cancer Center, University Hospital Augsburg, 86156 Augsburg, Germany"},{"name":"Bavarian Cancer Research Center (BZKF), 85156 Augsburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0250-1696","authenticated-orcid":false,"given":"Dominik","family":"Sturm","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Hematology, & Immunology, Heidelberg University Hospital, Division of Pediatric Glioma Research, German Cancer Research Center (DKFZ) and Hopp Children\u2019s Cancer Center Heidelberg (KiTZ), 69120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"von Zezschwitz","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr P\u00e4diatrie m. S. Onkologie\/H\u00e4matologie, Charit\u00e9-Universit\u00e4tsmedizin Berlin, 10117 Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal D.","family":"Johann","sequence":"additional","affiliation":[{"name":"Pediatrics and Adolescent Medicine, Swabian Children\u2019s Cancer Center, University Hospital Augsburg, 86156 Augsburg, Germany"},{"name":"Bavarian Cancer Research Center (BZKF), 85156 Augsburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marlena","family":"Mucha","sequence":"additional","affiliation":[{"name":"Pediatrics and Adolescent Medicine, Swabian Children\u2019s Cancer Center, University Hospital Augsburg, 86156 Augsburg, Germany"},{"name":"Bavarian Cancer Research Center (BZKF), 85156 Augsburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e210112","DOI":"10.1001\/jamanetworkopen.2021.0112","article-title":"A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype","volume":"4","author":"Mirshahi","year":"2021","journal-title":"JAMA Netw. Open"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"381","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":"ref_3","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1038\/nrc3802","article-title":"DICER1: Mutations, MicroRNAs and Mechanisms","volume":"14","author":"Foulkes","year":"2014","journal-title":"Nat. Rev. Cancer"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1038\/s41586-023-05723-3","article-title":"Structure of the Human DICER\u2013Pre-MiRNA Complex in a Dicing State","volume":"615","author":"Lee","year":"2023","journal-title":"Nature"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1016\/j.molcel.2014.01.003","article-title":"A Phosphate-Binding Pocket within the Platform-PAZ-Connector Helix Cassette of Human Dicer","volume":"53","author":"Tian","year":"2014","journal-title":"Mol. Cell"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1038\/nsmb.2268","article-title":"The Molecular Architecture of Human Dicer","volume":"19","author":"Lau","year":"2012","journal-title":"Nat. Struct. Mol. Biol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"6568","DOI":"10.1093\/nar\/gkt361","article-title":"Differential Roles of Human Dicer-Binding Proteins TRBP and PACT in Small RNA Processing","volume":"41","author":"Lee","year":"2013","journal-title":"Nucleic Acids Res."},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Robertson, J.C., Jorcyk, C.L., and Oxford, J.T. (2018). DICER1 Syndrome: DICER1 Mutations in Rare Cancers. Cancers, 10.","DOI":"10.3390\/cancers10050143"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"3707","DOI":"10.1016\/j.molcel.2023.09.021","article-title":"DICER Ribonuclease Removes Harmful R-Loops","volume":"83","author":"Camino","year":"2023","journal-title":"Mol. Cell"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1016\/j.cell.2019.08.055","article-title":"R Loops: From Physiological to Pathological Roles","volume":"179","author":"Aguilera","year":"2019","journal-title":"Cell"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"e76","DOI":"10.1158\/1078-0432.CCR-17-0629","article-title":"PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood","volume":"23","author":"Schultz","year":"2017","journal-title":"Clin. Cancer Res."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1200\/JCO.2018.78.4678","article-title":"Neoplasm Risk among Individuals with a Pathogenic Germline Variant in DICER1","volume":"37","author":"Stewart","year":"2019","journal-title":"J. Clin. Oncol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1007\/s11060-022-03994-w","article-title":"DICER1 Mutations in Primary Central Nervous System Tumors: New Insights into Histologies, Mutations, and Prognosis","volume":"157","author":"Liu","year":"2022","journal-title":"J. Neurooncol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1007\/s00401-019-01997-y","article-title":"An Update on the Central Nervous System Manifestations of DICER1 Syndrome","volume":"139","author":"Priest","year":"2020","journal-title":"Acta Neuropathol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/s00401-020-02182-2","article-title":"ETMR: A Tumor Entity in Its Infancy","volume":"140","author":"Lambo","year":"2020","journal-title":"Acta Neuropathol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1038\/s41586-019-1815-x","article-title":"The Molecular Landscape of ETMR at Diagnosis and Relapse","volume":"576","author":"Lambo","year":"2019","journal-title":"Nature"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1016\/j.neuron.2010.02.018","article-title":"MicroRNA-Mediated Control of Oligodendrocyte Differentiation","volume":"65","author":"Zhao","year":"2010","journal-title":"Neuron"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1038\/gim.2016.83","article-title":"Macrocephaly Associated with the DICER1 Syndrome","volume":"19","author":"Khan","year":"2017","journal-title":"Genet. Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1007\/s00401-013-1228-0","article-title":"Embryonal Tumor with Abundant Neuropil and True Rosettes (ETANTR), Ependymoblastoma, and Medulloepithelioma Share Molecular Similarity and Comprise a Single Clinicopathological Entity","volume":"128","author":"Korshunov","year":"2014","journal-title":"Acta Neuropathol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"253","DOI":"10.25259\/SNI_259_2024","article-title":"Primary Intracranial Sarcoma, DICER-1 Mutant, with Hemorrhagic Presentation: A Case Report","volume":"15","author":"Edelbach","year":"2024","journal-title":"Surg. Neurol. Int."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Kosteniuk, S.E., Michaiel, G., and Dunham, C. (2023). A Case of Primary Intracranial Sarcoma, DICER1-Mutant, in a Child with a Germline DICER1 Mutation. Brain Sci., 13.","DOI":"10.3390\/brainsci13071040"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1910","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":"ref_23","doi-asserted-by":"crossref","first-page":"308","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":"ref_24","doi-asserted-by":"crossref","first-page":"521","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":"ref_25","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1002\/cncr.33977","article-title":"Primary Central Nervous System Sarcoma with DICER1 Mutation\u2014Treatment Results of a Novel Molecular Entity in Pediatric Peruvian Patients","volume":"128","author":"Mynarek","year":"2022","journal-title":"Cancer"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1007\/s00401-014-1318-7","article-title":"Germ-Line and Somatic DICER1 Mutations in Pineoblastoma","volume":"128","author":"Sabbaghian","year":"2014","journal-title":"Acta Neuropathol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"e28252","DOI":"10.1002\/pbc.28252","article-title":"Pineoblastoma in Children Less than Six Years of Age: The Head Start I, II, and III Experience","volume":"67","author":"Abdelbaki","year":"2020","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1007\/s00401-019-02101-0","article-title":"Molecular Subgrouping of Primary Pineal Parenchymal Tumors Reveals Distinct Subtypes Correlated with Clinical Parameters and Genetic Alterations","volume":"139","author":"Pfaff","year":"2020","journal-title":"Acta Neuropathol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1126\/science.1174334","article-title":"DICER1 Mutations in Familial Pleuropulmonary Blastoma","volume":"325","author":"Hill","year":"2009","journal-title":"Science"},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Masarweh, K., Mordechai, O., Gur, M., Bar-Yoseph, R., Bentur, L., and Ilivitzki, A. (2023). Challenges in DICER1-Associated Lung Disease. J. Clin. Med., 12.","DOI":"10.3390\/jcm12051918"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1002\/cncr.29032","article-title":"Pleuropulmonary Blastoma: A Report on 350 Central Pathology-Confirmed Pleuropulmonary Blastoma Cases by the International Pleuropulmonary Blastoma Registry","volume":"121","author":"Messinger","year":"2015","journal-title":"Cancer"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1097\/MPH.0000000000001392","article-title":"Identification of Homozygous Somatic DICER1 Mutation in Pleuropulmonary Blastoma","volume":"42","author":"Nozawa","year":"2020","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Ricarte-Filho, J.C., Casado-Medrano, V., Reichenberger, E., Spangler, Z., Scheerer, M., Isaza, A., Baran, J., Patel, T., MacFarland, S.P., and Brodeur, G.M. (2023). DICER1 RNase IIIb Domain Mutations Trigger Widespread MiRNA Dysregulation and MAPK Activation in Pediatric Thyroid Cancer. Front. Endocrinol., 14.","DOI":"10.3389\/fendo.2023.1083382"},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"Abbo, O., Pinnagoda, K., Brouchet, L., Leobon, B., Savagner, F., Oliver, I., Galinier, P., Castex, M.P., and Pasquet, M. (2018). Wilms tumor, pleuropulmonary blastoma, and DICER1: Case report and literature review. World J. Surg. Oncol., 16.","DOI":"10.1186\/s12957-018-1469-4"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1111\/his.14217","article-title":"Loss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin-like enhancer 1 in primary intracranial sarcoma, DICER1-mutant","volume":"78","author":"Alexandrescu","year":"2021","journal-title":"Histopathology"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"111ps46","DOI":"10.1126\/scitranslmed.3002493","article-title":"miRNA processing and human cancer: DICER1 cuts the mustard","volume":"3","author":"Bahubeshi","year":"2011","journal-title":"Sci. Transl. Med."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1834","DOI":"10.1056\/NEJMoa1812169","article-title":"Mesenchymal Hamartoma of the Liver and DICER1 Syndrome","volume":"380","author":"Segni","year":"2019","journal-title":"N. Engl. J. Med."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"214","DOI":"10.12688\/f1000research.6746.1","article-title":"Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: A unique variant of the two-hit tumor suppression model","volume":"4","author":"Brenneman","year":"2015","journal-title":"F1000Research"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1007\/s11427-017-9081-x","article-title":"DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma","volume":"60","author":"Cai","year":"2017","journal-title":"Sci. China Life Sci."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"e27744","DOI":"10.1002\/pbc.27744","article-title":"Germline DICER1-mutant intracranial sarcoma with dual chondroid and spindle cell morphology and pulmonary metastases treated with multimodal therapy","volume":"66","author":"Das","year":"2019","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1002\/gcc.22523","article-title":"Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion","volume":"57","author":"Geoffrion","year":"2018","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"2091","DOI":"10.1002\/pbc.24692","article-title":"Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma","volume":"60","author":"Plourde","year":"2013","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1002\/pbc.24020","article-title":"DICER1 Mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome","volume":"59","author":"Doros","year":"2012","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_44","doi-asserted-by":"crossref","unstructured":"Fern\u00e1ndez-Mart\u00ednez, L., Villegas, J.A., Santamar\u00eda, \u00cd., Pitiot, A.S., Alvarado, M.G., Fern\u00e1ndez, S., Torres, H., Paredes, \u00c1., Blay, P., and Balb\u00edn, M. (2017). Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree. BMC Cancer, 17.","DOI":"10.1186\/s12885-017-3136-5"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1002\/humu.21600","article-title":"Extending the phenotypes associated with DICER1 mutations","volume":"32","author":"Foulkes","year":"2011","journal-title":"Hum. Mutat."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"152002","DOI":"10.1016\/j.anndiagpath.2022.152002","article-title":"Pleuropulmonary blastoma (PPB) and other DICER1-associated high-grade malignancies are morphologically, genetically and epigenetically related\u2014A comparative study of 4 PPBs and 6 sarcomas","volume":"60","author":"Eijkelenboom","year":"2022","journal-title":"Ann. Diagn. Pathol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1177\/1093526619878602","article-title":"DICER1 Hotspot Mutations in Pleuropulmonary Blastoma: A Case Series From a Tertiary Center","volume":"23","author":"Hurdogan","year":"2020","journal-title":"Pediatr. Dev. Pathol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"354","DOI":"10.5607\/en23021","article-title":"Methylation-based Subclassifications of Embryonal Tumor with Multilayered Rosettes in Not Just Pediatric Brains","volume":"32","author":"Kim","year":"2023","journal-title":"Exp. Neurobiol."},{"key":"ref_49","first-page":"699","article-title":"Targeted next-generation sequencing of pediatric neuro-oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy","volume":"19","author":"Kline","year":"2017","journal-title":"Neuro-Oncol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"327","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":"ref_51","doi-asserted-by":"crossref","first-page":"1677","DOI":"10.1038\/s41467-023-37092-w","article-title":"Genomic characterization of DICER1-associated neoplasms uncovers molecular","volume":"14","author":"Kommoss","year":"2023","journal-title":"Nat. Commun."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1007\/s00431-015-2660-z","article-title":"Hodgkin lymphoma as a novel presentation of familial DICER1 syndrome","volume":"175","author":"Kuhlen","year":"2016","journal-title":"Eur. J. Pediatr."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"e470","DOI":"10.1016\/S1470-2045(16)30522-8","article-title":"Sarcoma and germ-line DICER1 mutations","volume":"17","year":"2016","journal-title":"Lancet Oncol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1007\/s00401-019-01990-5","article-title":"Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma","volume":"137","author":"Lee","year":"2019","journal-title":"Acta Neuropathol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1093\/jnen\/nlac053","article-title":"Primary Intracranial Sarcoma, DICER1-Mutant Presenting as a Pineal Region Tumor Mimicking Pineoblastoma: Case Report and Review of the Literature","volume":"81","author":"Leelatian","year":"2022","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1007\/s00401-019-02111-y","article-title":"Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: A Rare Brain Tumor Consortium registry study","volume":"139","author":"Li","year":"2020","journal-title":"Acta Neuropathol."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1007\/s00401-019-02106-9","article-title":"Risk-adapted therapy and biological heterogeneity in pineoblastoma: Integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials","volume":"139","author":"Liu","year":"2020","journal-title":"Acta Neuropathol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/s40748-023-00148-2","article-title":"Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing","volume":"9","author":"Lyle","year":"2023","journal-title":"Matern. Health Neonatol. Perinatol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1093\/neuonc\/now105","article-title":"Histopathologic review of pineal parenchymal tumors identifies novel morphologic subtypes and prognostic factors for outcome","volume":"19","author":"Raleigh","year":"2017","journal-title":"Neuro-Oncol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1136\/jmedgenet-2012-100898","article-title":"Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma","volume":"49","author":"Sabbaghian","year":"2012","journal-title":"J. Med. Genet."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1007\/s10014-019-00352-z","article-title":"Two cases of primary supratentorial intracranial rhabdomyosarcoma with DICER1 mutation which may belong to a \u201cspindle cell sarcoma with rhabdomyosarcoma-like feature, DICER1 mutant\u201d","volume":"36","author":"Sakaguchi","year":"2019","journal-title":"Brain Tumor Pathol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"2742","DOI":"10.1158\/0008-5472.CAN-13-2470","article-title":"Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma","volume":"74","author":"Seki","year":"2014","journal-title":"Cancer Res."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1947","DOI":"10.1210\/jc.2013-3932","article-title":"Multinodular Goiter in Children: An Important Pointer to a Germline DICER1 Mutation","volume":"99","author":"Rath","year":"2014","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1136\/jmg.2010.083790","article-title":"DICER1 syndrome: Clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome","volume":"48","author":"Slade","year":"2011","journal-title":"J. Med. Genet."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1007\/s00439-014-1474-9","article-title":"Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder","volume":"133","author":"Stewart","year":"2014","journal-title":"Hum. Genet."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1002\/cjp2.264","article-title":"PRAME protein expression in DICER1-related tumours","volume":"8","author":"Thorner","year":"2022","journal-title":"J. Pathol. Clin. Res."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1007\/s00401-018-1935-7","article-title":"ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors","volume":"137","author":"Siegfried","year":"2019","journal-title":"Acta Neuropathol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"e26720","DOI":"10.1002\/pbc.26720","article-title":"DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center","volume":"65","author":"Villani","year":"2018","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"e13026","DOI":"10.1111\/bpa.13026","article-title":"A 2-year-old girl with posterior fossa mass","volume":"32","author":"Wang","year":"2022","journal-title":"Brain Pathol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1038\/s41379-019-0366-x","article-title":"Expanding the spectrum of dicer1-associated sarcomas","volume":"33","author":"Warren","year":"2020","journal-title":"Mod. 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