{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T20:43:24Z","timestamp":1792442604230,"version":"4.5.0"},"reference-count":30,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2025,12,9]],"date-time":"2025-12-09T00:00:00Z","timestamp":1765238400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["17\u00a0K16239"],"award-info":[{"award-number":["17\u00a0K16239"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,13]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>DICER1 syndrome is a relatively recently identified hereditary tumor predisposition syndrome, strongly associated with pleuropulmonary blastoma (PPB) and other neoplasms, but its actual status in Japan is unclear.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively performed germline DICER1 gene analysis in patients with suspected PPB at our institute between 2003 and 2022. Relevant clinical data were extracted from the medical records.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Six patients with PPB were identified, of whom four harbored pathogenic germline variants in DICER1. Only one patient had a family history of childhood or juvenile cancer. Genetic testing of unaffected family members was performed in two families, revealing three asymptomatic carriers, including one infant carrier. Two of the three carriers underwent active surveillance, and no new tumors were detected on follow-up at 6 and 2.5\u00a0years after diagnosis, respectively.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>A high prevalence of DICER1 germline variants was observed in patients with PPB, consistent with previous studies. Family history alone may be insufficient to suspect DICER1 syndrome, and thus, proactive genetic testing of family members is advisable in all cases of PPB.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/jjco\/hyaf180","type":"journal-article","created":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T12:48:05Z","timestamp":1762087685000},"page":"202-208","source":"Crossref","is-referenced-by-count":2,"title":["DICER1 mutational analysis of pleuropulmonary blastoma: a single institutional experience"],"prefix":"10.1093","volume":"56","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2792-1235","authenticated-orcid":false,"given":"Sho","family":"Hosaka","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Tsukuba Hospital , 2-1-1 Amakubo, Tsukuba , Ibaraki 305-8576,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1290-3501","authenticated-orcid":false,"given":"Hiroko","family":"Fukushima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Tsukuba Hospital , 2-1-1 Amakubo, Tsukuba , Ibaraki 305-8576,","place":["Japan"]},{"name":"Department of Child Health, Institute of Medicine, University of Tsukuba , 2-1-1 Amakubo, Tsukuba ,","place":["Ibaraki 305-8576, Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryoko","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Child Health, Institute of Medicine, University of Tsukuba , 2-1-1 Amakubo, Tsukuba ,","place":["Ibaraki 305-8576, Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuni","family":"Yamaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Tsukuba Hospital , 2-1-1 Amakubo, Tsukuba , Ibaraki 305-8576,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kumie","family":"Nagatomo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Tsukuba Hospital , 2-1-1 Amakubo, Tsukuba , Ibaraki 305-8576,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masako","family":"Inaba","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Tsukuba Hospital , 2-1-1 Amakubo, Tsukuba , Ibaraki 305-8576,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keisuke","family":"Kato","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology and Oncology, Ibaraki Children\u2019s Hospital , 3-3-1 Futabadai, Mito ,","place":["Ibaraki 311-4145, Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6573-6463","authenticated-orcid":false,"given":"Noriaki","family":"Sakamoto","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Pathology, Institute of Medicine, University of Tsukuba , 2-1-1 Amakubo, Tsukuba , Ibaraki 305-8576,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidetoshi","family":"Takada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Tsukuba Hospital , 2-1-1 Amakubo, Tsukuba , Ibaraki 305-8576,","place":["Japan"]},{"name":"Department of Child Health, Institute of Medicine, University of Tsukuba , 2-1-1 Amakubo, Tsukuba ,","place":["Ibaraki 305-8576, Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,12,9]]},"reference":[{"key":"2026021308522434800_ref1","doi-asserted-by":"publisher","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 (New York, NY)"},{"key":"2026021308522434800_ref2","doi-asserted-by":"publisher","first-page":"2251","DOI":"10.1158\/1078-0432.CCR-17-3089","article-title":"DICER1 and associated conditions: Identification of At-risk individuals and recommended surveillance strategies","volume":"24","author":"Schultz","year":"2018","journal-title":"Clin Cancer Res"},{"key":"2026021308522434800_ref3","doi-asserted-by":"publisher","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":"2026021308522434800_ref4","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1038\/s10038-021-00961-7","article-title":"Cancer predisposition genes in Japanese children with rhabdomyosarcoma","volume":"67","author":"Fukushima","year":"2021","journal-title":"J Hum Genet"},{"key":"2026021308522434800_ref5","doi-asserted-by":"publisher","first-page":"D980","DOI":"10.1093\/nar\/gkt1113","article-title":"ClinVar: Public archive of relationships among sequence variation and human phenotype","volume":"42","author":"Landrum","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"2026021308522434800_ref6","doi-asserted-by":"publisher","first-page":"W452","DOI":"10.1093\/nar\/gks539","article-title":"SIFT web server: Predicting effects of amino acid substitutions on proteins","volume":"40","author":"Sim","year":"2012","journal-title":"Nucleic Acids 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clinicopathologic study of 50 cases","volume":"80","author":"Priest","year":"1997","journal-title":"Cancer."},{"key":"2026021308522434800_ref13","doi-asserted-by":"publisher","first-page":"1939","DOI":"10.1002\/humu.23877","article-title":"Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes","volume":"40","author":"Kock","year":"2019","journal-title":"Hum Mutat"},{"key":"2026021308522434800_ref14","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1002\/jso.24416","article-title":"The impact of local control in the treatment of type II\/III pleuropulmonary blastoma. Experience of the cooperative Weichteilsarkom Studiengruppe (CWS)","volume":"115","author":"Sparber-Sauer","year":"2017","journal-title":"J Surg Oncol"},{"issue":"1","key":"2026021308522434800_ref15","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1016\/j.ejca.2013.08.015","article-title":"Treatment and prognostic factors in pleuropulmonary blastoma: An EXPeRT report","volume":"50","author":"Bisogno","year":"2014","journal-title":"European J Cancer"},{"key":"2026021308522434800_ref16","doi-asserted-by":"publisher","first-page":"1719","DOI":"10.1002\/cncr.20928","article-title":"The IVADo regimen--a pilot study with ifosfamide, vincristine, actinomycin D, and doxorubicin in children with metastatic soft tissue sarcoma: A pilot study of behalf of the European pediatric soft tissue sarcoma study 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pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences","volume":"33","author":"Pugh","year":"2014","journal-title":"Oncogene."},{"key":"2026021308522434800_ref30","doi-asserted-by":"publisher","DOI":"10.1186\/s12885-017-3136-5","article-title":"Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree","volume":"17","author":"Fern\u00e1ndez-Mart\u00ednez","year":"2017","journal-title":"BMC Cancer"}],"container-title":["Japanese Journal of Clinical 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