Retinoblastom: Vorschlag eines multimodalen Behandlungskonzeptes für Patienten mit intraokularem Retinoblastom in Österreich

Abstract

Retinoblastoma is the most common intraocular malignancy in childhood. If confined to the globe and managed with current treatment strategies, more than 90% of children survive with preservation of vision in at least one eye, even in bilateral retinoblastoma. Enucleation of the involved eye in unilateral retinoblastoma and of the more involved eye in bilateral disease, together with external beam radiotherapy in advanced bilateral retinoblastoma, formed the two cornerstones of treatment for many years and led to an increase in survival to over 90%. In the early 1990s the extent of the risk of second cancers in the field of radiation became known, the risk increasing by 10% per decade of life. As a consequence, chemotherapy-based regimens were developed as alternative treatments. During the past ten years retinoblastoma treatment has fundamentally changed, with a trend away from enucleation and external beam radiotherapy towards conservative treatments aiming at preservation of the affected globe(s) in selected patients. Systemic neoadjuvant chemotherapy induces tumor regression (chemoreduction), and residual regressed tumor is then treated focally with, for example, transpupillary thermotherapy, cryotherapy and plaque radiotherapy (consolidation). Between 1984 and 2004, 27 patients were treated at the department of ophthalmology in collaboration with the department of pediatrics at the Medical University of Graz. Before 2001, the affected eyes of all patients with unilateral retinoblastoma were enucleated (10 of 10), as were 6 of 7 of the more involved eyes of patients with bilateral disease. A globe-sparing strategy was introduced in 2001 and since then eligible patients have been treated with chemoreduction and focal therapy; 2 of 5 eyes with unilateral disease were salvaged, and both eyes of a patient with bilateral disease. We discuss current treatment options and present a proposal for the management of intraocular retinoblastoma in children in Austria, the Austrian retinoblastoma study, RB A-2003.

Die Geschichte der Ophthalmoonkologie an der Univ.-Augenklinik Graz

“…6). In der Literatur vorgegeben ist eine sehr hohe, über 95 % zu erlangende Überlebenswahrscheinlich-keit, die in Graz über Jahrzehnte erreicht wurde [59].…”

Prognostic significance of retinoblastoma gene mutation in retinoblastoma eye with respect to pathological risk factors

“…A nested polymerase chain reaction (PCR) protocol was established with two sets of primers designed to amplify exon 27 of the RB1 gene and its vicinity region and tested on single lymphocytes from the couple. Screening of germline mutations in the RB1 gene was performed with PCRdirected sequencing of the promoter and the 27 coding exons, and their flanking intronic regions, using the primers described by Abouzeid et al [8]. PCR reactions were performed in a thermal cycler (ABI 2700), in a total volume of 15 µl containing 25 -50 ng of genomic DNA, 3 picomoles of each primer, and 7.5 µl of master mix 2× (AmpliTaq Gold 360 Master Mix; Applied Biosystems, Foster City, CA).…”

“…However, 87% of the children who become the victim of this disease worldwide die, mostly in developing countries. In developed countries, 97% of those who do live have moderate to severe visual impairment or the child may lose one or both eyes [8].…”

Retinoblastom – eine interdisziplinäre Herausforderung

“…In der vorliegenden Arbeit der Grazer RetinoblastomArbeitsgruppe [25] in diesem Heft der Wiener Klinischen Wochenschrift werden die Probleme und Besonderheiten dieser Patientengruppe thematisiert und es wird erstmals versucht, einen Ausweg aus dem Dilemma zu weisen. Die Grazer Gruppe zeigt, dass sie sich bereits seit über 20 Jahren in enger interdisziplinärer Kooperation zwischen Ophthalmo-Onkologie und pädiatrischer Onkologie mit der Problematik des Retinoblastoms auseinandergesetzt hat.…”