Current Concepts for Diagnosis and Treatment of Retinoblastoma in Germany: Aiming for Safe Tumor Control and Vision Preservation

 

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Abstract

Retinoblastoma affects approximately 40 children in Germany per year. Most children are diagnosed early with localized intraocular disease, and the overall survival rate exceeds 95%. However, the prognosis of metastasized retinoblastoma remains poor. In 40% of the patients, retinoblastoma occurs bilaterally and, especially for these children, the salvage of the eye and visual function is of major importance. The variety of conservative treatment options for localized retinoblastoma includes laser coagulation, thermotherapy, cryotherapy, brachytherapy and chemotherapy. While systemic chemotherapy has nearly completely replaced external beam radiotherapy in the primary treatment of intraocular retinoblastoma, intra-arterial, intravitreal and periocular application of chemotherapy was also shown to be effective in treating intraocular retinoblastoma in case series. Genetic testing is an integral part of the routine diagnostics of all patients. Available tumor material should be analyzed to detect mutational mosaicism, that affects >10% of children with unilateral retinoblastoma. Genetic testing also identifies children with heritable (50% of patients) retinoblastoma. These children have a genetic predisposition for second malignancies. For this reason, late effects are an increasing concern and the care of patients with retinoblastoma requires a multidisciplinary approach to tailor therapy and long-term follow-up. Multicenter clinical trials are being developed to evaluate evidence-based treatment concepts for localized and metastasized retinoblastoma to improve survival rates and quality of life of children with retinoblastoma.

Zusammenfassung

In Deutschland erkranken ungefähr 40 Kinder im Jahr an einem Retinoblastom. Da das Retinoblastom bei früher Diagnose zumeist lokalisiert im Auge auftritt, sind die Gesamtüberlebensraten mit über 95% gut. Die Heilungschancen für die Behandlung des metastasierten Retinoblas­toms bleiben jedoch gering. Ungefähr 40% der Patienten erkranken bilateral und der Er­halt des Auges und der verbleibenden Sehkraft ist insbesondere für diese Kinder von großer Bedeutung. Daher werden unter anderem Laserkoagulation, Thermotherapie, Kryotherapie, Brachytherapie oder systemische Chemotherapie zur konservative Behandlung eingesetzt. Die systemische Chemotherapie hat heutzutage die perkutane Bestrahlung fast vollständig in der Primärtherapie ersetzt. In klinischen Fallstudien konnte zudem die Wirksamkeit der intra-arteriellen, intravitrealen und der periokularen Gabe von Chemotherapie zur Behandlung intraokularer Retinoblastome nachgewiesen werden. Die genetische Untersuchung ist ein wesentlicher Bestandteil der Diagnostik bei Retinoblastom. Vorhandenes Tumormaterial sollte analysiert werden, um ein Mutationsmosaik zu erkennen, das bei >10% der Kinder mit unilateralem Reti­noblastom vorliegt. Durch die genetische Diagnostik werden auch die Kinder mit hereditärem Retinoblastom (50% der Patienten) identifiziert. Diese Kinder haben eine genetische Prädisposition für Zweittumore. Spätfolgen sind daher von großer Bedeutung und erfordern eine multidisziplinäre Zusammenarbeit in der Behandlung und Nachsorge von Kindern mit Retinoblastom. Aktuell werden multizentrische klinische Studien entwickelt, um evidenzbasierte Therapiekonzepte für das lokalisierte und das metastasierte Retinoblastom zu untersuchen und die Überlebensrate und die Lebensqualität der erkrankten Kinder zu verbessern.

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