Reschke, Madlen ORCID: 0000-0003-1706-1160, Biewald, Eva, Bronstein, Leo, Brecht, Ines B., Dittner-Moormann, Sabine, Driever, Frank, Ebinger, Martin ORCID: 0000-0002-4229-8058, Fleischhack, Gudrun ORCID: 0000-0001-5714-007X, Grabow, Desiree, Geismar, Dirk, Goricke, Sophia, Guberina, Maja, Le Guin, Claudia H. D., Kiefer, Tobias, Kratz, Christian P., Metz, Klaus, Muller, Bert, Ryl, Tatsiana, Schlamann, Marc, Schluter, Sabrina, Schonberger, Stefan ORCID: 0000-0002-7222-296X, Schulte, Johannes H., Sirin, Selma ORCID: 0000-0003-4555-0367, Susskind, Daniela, Timmermann, Beate, Ting, Saskia ORCID: 0000-0003-1415-7714, Wackernagel, Werner, Wieland, Regina, Zenker, Martin, Zeschnigk, Michael, Reinhardt, Dirk ORCID: 0000-0002-7027-4483, Eggert, Angelika ORCID: 0000-0003-3476-8184, Ritter-Sovinz, Petra, Lohmann, Dietmar R., Bornfeld, Norbert, Bechrakis, Nikolaos and Ketteler, Petra ORCID: 0000-0002-8138-0441 (2021). Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria. Cancers, 13 (8). BASEL: MDPI. ISSN 2072-6694

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Abstract

Simple Summary Eye tumors in children are very rare. In Europe, these eye tumors are nearly always diagnosed early and cure rates are high. However, eye tumors in childhood often occur as the first sign of a genetic tumor predisposition syndrome. This study collected data of children with malignant eye tumors diagnosed in five years in Germany and Austria to learn about the association of eye tumors in childhood with tumor predisposition syndrome. The study recruited 300 children with malignant eye tumors in childhood. In the here-presented cohort, more than 40% of eye tumors were associated with rare tumor predisposition syndromes. For this reason, all children with eye tumors and their families should receive genetic counseling for a tumor predisposition syndrome. Children with a genetic predisposition to cancer should receive a tailored surveillance, including detailed history, physical examination and, if indicated, imaging to screen for other cancers later in life. 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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Reschke, MadlenUNSPECIFIEDorcid.org/0000-0003-1706-1160UNSPECIFIED
Biewald, EvaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bronstein, LeoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brecht, Ines B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dittner-Moormann, SabineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Driever, FrankUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ebinger, MartinUNSPECIFIEDorcid.org/0000-0002-4229-8058UNSPECIFIED
Fleischhack, GudrunUNSPECIFIEDorcid.org/0000-0001-5714-007XUNSPECIFIED
Grabow, DesireeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Geismar, DirkUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goricke, SophiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guberina, MajaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Le Guin, Claudia H. D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kiefer, TobiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kratz, Christian P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Metz, KlausUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Muller, BertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ryl, TatsianaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schlamann, MarcUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schluter, SabrinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schonberger, StefanUNSPECIFIEDorcid.org/0000-0002-7222-296XUNSPECIFIED
Schulte, Johannes H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sirin, SelmaUNSPECIFIEDorcid.org/0000-0003-4555-0367UNSPECIFIED
Susskind, DanielaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Timmermann, BeateUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ting, SaskiaUNSPECIFIEDorcid.org/0000-0003-1415-7714UNSPECIFIED
Wackernagel, WernerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wieland, ReginaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zenker, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zeschnigk, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Reinhardt, DirkUNSPECIFIEDorcid.org/0000-0002-7027-4483UNSPECIFIED
Eggert, AngelikaUNSPECIFIEDorcid.org/0000-0003-3476-8184UNSPECIFIED
Ritter-Sovinz, PetraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lohmann, Dietmar R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bornfeld, NorbertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bechrakis, NikolaosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ketteler, PetraUNSPECIFIEDorcid.org/0000-0002-8138-0441UNSPECIFIED
URN: urn:nbn:de:hbz:38-602193
DOI: 10.3390/cancers13081876
Journal or Publication Title: Cancers
Volume: 13
Number: 8
Date: 2021
Publisher: MDPI
Place of Publication: BASEL
ISSN: 2072-6694
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
OncologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/60219

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