Diagnose und Behandlung des Retinoblastoms: aktuelle Konzepte zur sicheren Tumorkontrolle bei Erhalt des Sehvermögens

Zusammenfassung

In Deutschland erkranken ungefähr 40 Kinder im Jahr an einem Retinoblastom. Bei früher Diagnose ist das Tumorwachstum auf das Auge beschränkt, und die Gesamtüberlebensraten sind mit über 95 % gut. Patienten mit metastasiertem Retinoblastom dagegen haben nur sehr geringe Heilungschancen. Bei den ca. 40 % der Patienten, bei denen Retinoblastome in beiden Augen auftreten, ist der Erhalt von möglichst viel verbleibender Sehkraft nach der Therapie von großer Bedeutung. In der konservativen Behandlung werden unter anderem Laserkoagulation, Thermotherapie, Kryotherapie, Brachytherapie oder systemische Chemotherapie eingesetzt. In der Primärtherapie hat die systemische Chemotherapie die perkutane Bestrahlung heutzutage fast vollständig ersetzt. Klinische Fallstudien zeigten zudem die Wirksamkeit der intraarteriellen, intravitrealen und periokularen Gabe von Chemotherapie bei der Behandlung intraokularer Retinoblastome. Da das Retinoblastom erblich sein kann, sind genetische Untersuchungen ein wesentlicher Bestandteil der Diagnostik bei Retinoblastom. Insbesondere bei Patienten mit einseitigem Retinoblastom muss, wenn verfügbar, auch Tumormaterial untersucht werden. Bei den meisten Patienten mit sporadischem einseitigem Retinoblastom kann nur so die Diagnose der nicht ererbten Form sicher gestellt werden. Die genetische Diagnostik hat gezeigt, dass bei fast 50 % der Kinder mit Retinoblastom die erbliche Form der Erkrankung vorliegt. Diese Kinder haben ein erhöhtes Risiko für Tumoren außerhalb des Auges. Solche Zweittumoren und andere Spätfolgen sind während des weiteren Lebens von großer Bedeutung für die Patienten. Sie erfordern eine multidisziplinäre Zusammenarbeit in der Behandlung und Nachsorge. 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. Dieser Artikel wurde übersetzt und ergänzt und ist zuerst erschienen in Klin Padiatr 2012; 224: 339–347.

Abstract

There are approximately 40 new cases of retinoblastoma in Germany per year. Children in whom the tumour is detected when still intraocular have an excellent overall survival rate (> 95 %). However, the prognosis of metastasised retinoblastoma remains poor. About 40 % of retinoblastoma patients have tumours in both eyes. For these children in particular it is important to save the eye and visual function as much as possible. There are several options for conservative treatment of localised retinoblastoma including laser coagulation, thermotherapy, cryotherapy, brachytherapy and chemotherapy. In recent years, systemic chemotherapy has become the established standard for primary treatment of intraocular retinoblastoma. In case series, intra-arterial, intravitreal and periocular applications of chemotherapy were also shown to be effective in treating intraocular retinoblastoma. Genetic testing is an integral part of the routine diagnostics of all patients. Mutation analysis of tumour material is invaluable for identification of somatic mutations including mutational mosaicism. Genetic testing also identifies children with heritable retinoblastoma, which represent 50 % of cases. These children also have a predisposition for the development of tumours outside of the eye (second primary neoplasm). To adequately address these and other late effects in survivors of retinoblastoma, a multidisciplinary approach is needed that optimises therapy and long-term follow-up. Upcoming multicentre clinical trials will evaluate treatment concepts for localised and metastasised retinoblastoma to improve survival rates and quality of life of children with retinoblastoma. This article was translated and modified and was primarily published in Klin Padiatr 2012; 224: 339–347.

Schlüsselwörter

okuläre Tumoren - Retina - Tumorwachstum auf das Auge - Retinoblastom

Key words

paediatric ophthalmology - retina - ocular tumours - retinoblastoma

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