Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes : Insights from an Observational Study Conducted in Germany and Austria

Reschke, Madlen;
LSF
14343
Biewald, Eva; Bronstein, Leo;
GND
123071461
Brecht, Ines B.; Dittner-Moormann, Sabine; Driever, Frank; Ebinger, Martin; Fleischhack, Gudrun; Grabow, Desiree; Geismar, Dirk;
GND
132136341
LSF
12860
Göricke, Sophia Luise; Guberina, Maja; Le Guin, Claudia H.D.; Kiefer, Tobias; Kratz, Christian P.; Metz, Klaus; Müller, Bert; Ryl, Tatsiana; Schlamann, Marc; Schlüter, Sabrina; Schönberger, Stefan; Schulte, Johannes H.; Sirin, Selma;
GND
128637196
Süsskind, Daniela; Timmermann, Beate; Ting, Saskia; Wackernagel, Werner;
LSF
13293
Wieland, Regina; Zenker, Martin;
GND
172731089
LSF
13321
Zeschnigk, Michael; Reinhardt, Dirk; Eggert, Angelika; Ritter-Sovinz, Petra; Lohmann, Dietmar;
LSF
14342
Bornfeld, Norbert; Bechrakis, Nikolaos; Ketteler, Petra

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.

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