Cancers (Apr 2021)
Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria
- Madlen Reschke,
- Eva Biewald,
- Leo Bronstein,
- Ines B. Brecht,
- Sabine Dittner-Moormann,
- Frank Driever,
- Martin Ebinger,
- Gudrun Fleischhack,
- Desiree Grabow,
- Dirk Geismar,
- Sophia Göricke,
- Maja Guberina,
- Claudia H. D. Le Guin,
- Tobias Kiefer,
- Christian P. Kratz,
- Klaus Metz,
- Bert Müller,
- Tatsiana Ryl,
- Marc Schlamann,
- Sabrina Schlüter,
- Stefan Schönberger,
- Johannes H. Schulte,
- Selma Sirin,
- Daniela Süsskind,
- Beate Timmermann,
- Saskia Ting,
- Werner Wackernagel,
- Regina Wieland,
- Martin Zenker,
- Michael Zeschnigk,
- Dirk Reinhardt,
- Angelika Eggert,
- Petra Ritter-Sovinz,
- Dietmar R. Lohmann,
- Norbert Bornfeld,
- Nikolaos Bechrakis,
- Petra Ketteler
Affiliations
- Madlen Reschke
- Department of Pediatric Hematology and Oncology, Charité-Universitätsmedizin, 13353 Berlin, Germany
- Eva Biewald
- Department of Ophthalmology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany
- Leo Bronstein
- Institute of Biostatistics and Clinical Research, University of Muenster, 48149 Münster, Germany
- Ines B. Brecht
- Department of Pediatric Hematology and Oncology, Children’s University Hospital Tübingen, 72076 Tübingen, Germany
- Sabine Dittner-Moormann
- Department of Pediatric Hematology and Oncology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany
- Frank Driever
- Institute of Pathology, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany
- Martin Ebinger
- Department of Pediatric Hematology and Oncology, Children’s University Hospital Tübingen, 72076 Tübingen, Germany
- Gudrun Fleischhack
- Department of Pediatric Hematology and Oncology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany
- Desiree Grabow
- 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
- Dirk Geismar
- Clinic for Particle Therapy, West German Proton Therapy Centre Essen (WPE), University Hospital Essen, 45122 Essen, Germany
- Sophia Göricke
- Department of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, 45122 Essen, Germany
- Maja Guberina
- Department for Radiotherapy, University Hospital Essen, 45122 Essen, Germany
- Claudia H. D. Le Guin
- Department of Ophthalmology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany
- Tobias Kiefer
- Department of Ophthalmology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany
- Christian P. Kratz
- Department of Pediatric Hematology and Oncology, Hannover Medical School, 30625 Hannover, Germany
- Klaus Metz
- Institute of Pathology, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany
- Bert Müller
- Department of Ophthalmology, Charité-Universitätsmedizin, 13353 Berlin, Germany
- Tatsiana Ryl
- Department of Pediatric Hematology and Oncology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany
- Marc Schlamann
- Department of Neuroradiology, University Hospital Köln, 50937 Köln, Germany
- Sabrina Schlüter
- Department of Ophthalmology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany
- Stefan Schönberger
- Department of Pediatric Hematology and Oncology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany
- Johannes H. Schulte
- Department of Pediatric Hematology and Oncology, Charité-Universitätsmedizin, 13353 Berlin, Germany
- Selma Sirin
- Department of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, 45122 Essen, Germany
- Daniela Süsskind
- Department of Ophthalmology, University Hospital Tübingen, 72076 Tübingen, Germany
- Beate Timmermann
- Clinic for Particle Therapy, West German Proton Therapy Centre Essen (WPE), University Hospital Essen, 45122 Essen, Germany
- Saskia Ting
- Institute of Pathology, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany
- Werner Wackernagel
- Department of Ophthalmology, Medical University of Graz, 8036 Graz, Austria
- Regina Wieland
- Department of Pediatric Hematology and Oncology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany
- Martin Zenker
- Institute of Human Genetics, University Magdeburg, 39120 Magdeburg, Germany
- Michael Zeschnigk
- Institute of Human Genetics, Medical Faculty, University Duisburg-Essen, 45122 Essen, Germany
- Dirk Reinhardt
- Department of Pediatric Hematology and Oncology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany
- Angelika Eggert
- Department of Pediatric Hematology and Oncology, Charité-Universitätsmedizin, 13353 Berlin, Germany
- Petra Ritter-Sovinz
- Division of Pediatric Hematology/Oncology, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria
- Dietmar R. Lohmann
- German Consortium for Translational Cancer Research (DKTK), Standort Essen/Düsseldorf, 45122 Essen, Germany
- Norbert Bornfeld
- Department of Ophthalmology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany
- Nikolaos Bechrakis
- Department of Ophthalmology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany
- Petra Ketteler
- Department of Pediatric Hematology and Oncology, University Hospital Essen, University Duisburg Essen, 45122 Essen, Germany
- DOI
- https://doi.org/10.3390/cancers13081876
- Journal volume & issue
-
Vol. 13,
no. 8
p. 1876
Abstract
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 2013–2018 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.
Keywords
- retinoblastoma
- uveal melanoma
- retinal astrocytoma
- ciliary body medulloepithelioma
- genetic counseling
- DICER1 syndrome