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

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.

Bildgebung des Retinoblastoms

“…Da es sich bei etwa 40 % der Fälle um hereditäre Retinoblastome handelt, spielt -insbesondere bei bilateraler Erkrankung -die Genetik eine große Rolle [4]. Retinoblastome entstehen durch ein abnormes und unkontrolliertes Wachstum von Retinoblasten, retinalen Vorläuferzellen, aufgrund einer Mutation im RB1-Tumorsuppressions-Gen auf Chromosom ten Chemotherapeutikums in den Tumor zu ermöglichen [9].…”

Genetic Risk Factors and Clinical Outcomes in Childhood Eye Cancers: A Review

“…In childhood, malignant eye tumors have been associated with genetic tumor predisposition syndrome [ 6 , 7 ]. Genetic tumor predisposition syndrome is a genetic condition caused by inherited mutations in a group of genes that increase the risk of developing certain types of tumors [ 6 , 8 ]. It has been suggested that inherited eye disorders are the leading cause of blindness in childhood in developed countries [ 9 ].…”

Bilateral medulloepithelioma of the ciliary body: a case report

“…And he was asked to follow up by outpatient visit every month. Medulloepithelioma of ciliary body is a rare intraocular tumor arising from the nonpigmented ciliary epithelium of pars plicata and only nearly 120 cases were reported all over the world [1][2][3][4][5][6] . The tumor is believed to be nonhereditary, but it mainly occurs in infant and children, at a median age of 2 to 5y [1,5,[7][8][9][10][11] .…”