{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T20:36:14Z","timestamp":1792442174713,"version":"4.5.0"},"reference-count":57,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,4,14]],"date-time":"2021-04-14T00:00:00Z","timestamp":1618358400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100007311","name":"Deutsche Kinderkrebsstiftung","doi-asserted-by":"publisher","award":["2013.11"],"award-info":[{"award-number":["2013.11"]}],"id":[{"id":"10.13039\/501100007311","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007311","name":"Deutsche Kinderkrebsstiftung","doi-asserted-by":"publisher","award":["2016.09"],"award-info":[{"award-number":["2016.09"]}],"id":[{"id":"10.13039\/501100007311","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007311","name":"Deutsche Kinderkrebsstiftung","doi-asserted-by":"publisher","award":["2018.12"],"award-info":[{"award-number":["2018.12"]}],"id":[{"id":"10.13039\/501100007311","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Retinoblastoma and other eye tumors in childhood are rare diseases. Many eye tumors are the first signs of a genetic tumor predisposition syndrome and the affected children carry a higher risk of developing other cancers later in life. Clinical and genetic data of all children with eye tumors diagnosed between 2013\u20132018 in Germany and Austria were collected in a multicenter prospective observational study. In five years, 300 children were recruited into the study: 287 with retinoblastoma, 7 uveal melanoma, 3 ciliary body medulloepithelioma, 2 retinal astrocytoma, 1 meningioma of the optic nerve extending into the eye. Heritable retinoblastoma was diagnosed in 44% of children with retinoblastoma. One child with meningioma of the optic nerve extending into the eye was diagnosed with neurofibromatosis 2. No pathogenic constitutional variant in DICER1 was detected in a child with medulloepithelioma while two children did not receive genetic analysis. Because of the known association with tumor predisposition syndromes, genetic counseling should be offered to all children with eye tumors. Children with a genetic predisposition to cancer should receive a tailored surveillance including detailed history, physical examinations and, if indicated, imaging to screen for other cancer. Early detection of cancers may reduce mortality.<\/jats:p>","DOI":"10.3390\/cancers13081876","type":"journal-article","created":{"date-parts":[[2021,4,14]],"date-time":"2021-04-14T15:30:39Z","timestamp":1618414239000},"page":"1876","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria"],"prefix":"10.3390","volume":"13","author":[{"given":"Madlen","family":"Reschke","sequence":"first","affiliation":[{"name":"Department of Pediatric Hematology and Oncology, Charit\u00e9-Universit\u00e4tsmedizin, 13353 Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Biewald","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leo","family":"Bronstein","sequence":"additional","affiliation":[{"name":"Institute of Biostatistics and Clinical Research, University of Muenster, 48149 M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ines B.","family":"Brecht","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology, Children\u2019s University Hospital T\u00fcbingen, 72076 T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Dittner-Moormann","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Driever","sequence":"additional","affiliation":[{"name":"Institute of Pathology, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4229-8058","authenticated-orcid":false,"given":"Martin","family":"Ebinger","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology, Children\u2019s University Hospital T\u00fcbingen, 72076 T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5714-007X","authenticated-orcid":false,"given":"Gudrun","family":"Fleischhack","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desiree","family":"Grabow","sequence":"additional","affiliation":[{"name":"Division of Childhood Cancer Epidemiology, German Childhood Cancer Registry at Institute of Medical Biostatistics, Epidemiology and Informatics (IMBEI), University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk","family":"Geismar","sequence":"additional","affiliation":[{"name":"Clinic for Particle Therapy, West German Proton Therapy Centre Essen (WPE), University Hospital Essen, 45122 Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophia","family":"G\u00f6ricke","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, 45122 Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Guberina","sequence":"additional","affiliation":[{"name":"Department for Radiotherapy, University Hospital Essen, 45122 Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6088-6929","authenticated-orcid":false,"given":"Claudia H. D.","family":"Le Guin","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Kiefer","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4120-5873","authenticated-orcid":false,"given":"Christian P.","family":"Kratz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology, Hannover Medical School, 30625 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Metz","sequence":"additional","affiliation":[{"name":"Institute of Pathology, University Hospital Essen, University Duisburg-Essen, 45122 Essen, 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Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Werner","family":"Wackernagel","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Medical University of Graz, 8036 Graz, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina","family":"Wieland","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Zenker","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Magdeburg, 39120 Magdeburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Zeschnigk","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical Faculty, University Duisburg-Essen, 45122 Essen, 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