A.Y.N. Schouten-van Meeteren

Stage of presentation and visual outcome of patients screened for familial retinoblastoma: nationwide registration in the Netherlands.

Background: In the Netherlands a comprehensive programme for screening just after birth for familial retinoblastoma is taking place. In this report the stage of the disease at the time of detection, by way of screening, and the long term visual outcome in these patients was evaluated. Methods: A nationwide, retrospective study. From January 1992–July 2004, patients at risk for familial retinoblastoma were screened 1–2 weeks after birth, and investigated for laterality, Reese-Ellsworth classification/International Classification of Retinoblastoma, macular involvement, age of primary retinoblastoma, initial therapy, and visual outcome. Results: 17 patients were diagnosed with familial retinoblastoma. 88.3% developed bilateral, 11.7% unilateral retinoblastoma. Of the 34 eyes, 56% were R-E group I, 16% were group II A-B, 16% were group III A-B, 9% were group IV, 3% were group V. Using the International Classification of Retinoblastoma, 72% were group A, 19% were group B, 6% were group C, 3% were group E. The visual outcome revealed 73.5% of eyes with 20/20–20/40, 26.5% eyes with ⩽20/100–no light perception; 5.9% of eyes were enucleated, all other eyes were treated with local or conservative treatment methods. Of all eyes, 59% had extramacular retinoblastoma, 98% of patients had at least one eye with extramacular retinoblastoma. Conclusion: Most familial retinoblastoma patients present as a R-E group I or group A when screened within 2 weeks after birth. Nearly 90% of patients had a long term visual acuity of 20/20–20/40. Despite the common occurrence of macula involvement, bilateral macula involvement was infrequent, and since most eyes were salvaged, good vision was obtained in the majority of patients.

Contrast-Enhancement of the Anterior Eye Segment in Patients with Retinoblastoma: Correlation between Clinical, MR Imaging, and Histopathologic Findings

BACKGROUND AND PURPOSE: AES contrast-enhancement is recognized in a substantial number of retinoblastoma-affected eyes. We retrospectively investigated the histopathologic basis of AES contrast-enhancement on MR images in retinoblastoma. MATERIALS AND METHODS: Pretreatment contrast-enhanced MR images were obtained from 42 children with retinoblastoma. Forty-two enucleated eyes were included in this study, AES enhancement was evaluated by using a 3-point score, and these data were correlated with clinical, MR imaging, and histopathologic findings. Additionally, 14 specimens were immunohistochemically analyzed for CD31, VEGF, and Flt-1 expression. Statistical correlations with AES enhancement were assessed by using a linear-by-linear association test and univariate and multivariate ordinal regressions. RESULTS: The degree of abnormal AES enhancement was moderate in 15 (36%) eyes and strong in 14 (33%) eyes, whereas 13 (31%) eyes showed normal AES enhancement. In multivariate analysis, the degree of AES enhancement showed statistically significant correlations with iris surface-vessel count (P = .05) and optic nerve invasion (P = .04) in the enucleated eye and with tumor volume (P = .02) as detected on MR imaging. No significant associations between AES enhancement and VEGF expression in the iris were observed. Flt-1 (P = .04) staining in iris stroma and IA as detected with CD31 staining (P = .009) both yielded a statistically significant positive correlation with abnormal AES enhancement. CONCLUSIONS: The degree of abnormal AES enhancement on MR imaging in retinoblastoma reflects angiogenesis in the iris. AES enhancement is also a hallmark of advanced retinoblastoma because its degree correlates with tumor volume and optic nerve invasion.

Landelijke richtlijnen voor follow-up van overlevenden van kinderkanker

SamenvattingMembers of the Late Effects Taskforce of the Dutch Childhood Oncology Group (dcog) and of the Haematology-Oncology Section of the Dutch Paediatric Association are involved in the development of guidelines for the follow-up of childhood cancer survivors. The recommendations of these guidelines are based on the best available clinical evidence, current guidelines and clinical experience of late effects specialists. The guidelines will lead to a uniform and standardised post-treatment care and long-term follow-up of childhood cancer survivors in the Netherlands. The information in the guidelines will be of importance for care providers in paediatrics, general medicine, internal medicine, gynaecology/obstetrics as well as for other specialists and particularly for childhood cancer survivors themselves. The information will lead to an increased awareness for all Dutch care providers who are responsible for the health problems of childhood cancer survivors. The development of guidelines for childhood cancer survivors is an important part of a new Dutch project: Late Effects Registry (later). Within this new national project patient and treatment data as well as follow-up data on childhood cancer survivors in the Netherlands will be registered. The project later aims at: to coordinate and to evaluate care of the survivors, and to stimulate new research in the field of late effects of childhood cancer.SamenvattingVanuit de skion (Stichting Kinderoncologie Nederland) en de sectie Kinderoncologie-Hematologie van de Nederlandse Vereniging voor Kindergeneeskunde worden in Nederland richtlijnen opgesteld voor de follow-up van overlevenden van kinderkanker meer dan vijf jaar na diagnose. De aanbevelingen in deze richtlijnen voor follow-up zijn gebaseerd op het beschikbare bewijs, bestaande richtlijnen en het klinische inzicht van experts op het gebied van de late effecten. Deze richtlijnen zullen leiden tot een uniforme en gestandaardiseerde langetermijnzorg voor overlevenden na kinderkanker in Nederland. De informatie van de richtlijnen is belangrijk voor zorgverleners in het veld van kindergeneeskunde, huisartsgeneeskunde, interne geneeskunde, gynaecologie/obstetrie en andere specialisten en ook voor de overlevenden van kinderkanker. De informatie zal bijdragen aan een algemene bewustwording van de Nederlandse zorgverleners voor de gezondheidsproblemen van kinderen en jongvolwassenen die genezen zijn van kinderkanker. De richtlijnontwikkeling voor de follow-up van overlevenden van kinderkanker vormt een belangrijk onderdeel van het nieuwe landelijke project Lange Termijn Effecten Registratie: later. Binnen dit landelijke project zullen patiëntengegevens, gegevens over de oorspronkelijke behandeling en follow-upgegevens van alle overlevenden van kinderkanker in Nederland geregistreerd worden. Het doel van deze registratie is om de patiëntenzorg in Nederland te coördineren, te evalueren en nieuw wetenschappelijk onderzoek te stimuleren.

Behavioural functioning of retinoblastoma survivors

Objective: To assess behavioural problems in retinoblastoma (RB) survivors.

Fluorine-18 fluorodeoxyglucose positron emission tomography (PET) to detect vital retinoblastoma in the eye: Preliminary experience

Background/aims: To report our first experience with FDG-PET in the detection of vital retinoblastoma. Methods: Four newly diagnosed retinoblastoma patients, two treated retinoblastoma patients, and four control patients were enrolled in this pilot study. F18-FDG uptake was assessed in the light of clinical and histopathological features. Results: PET discriminated between new patients and controls, although tumor uptake varied widely. PET added no useful information with regard to possible vital tissue in tumor scars in the eye of the two treated retinoblastoma patients. Moreover, PET findings did not correlate with clinical or histopathological features. Conclusion: Based on this small pilot study, F18-PET shows little promise in the detection of retinoblastoma. More research on other radiofarmacons is recommended.

Retinal Dysplasia Mimicking Intraocular Tumor: MR Imaging Findings with Histopathologic Correlation

SUMMARY: We report a 6-month-old boy who presented with unilateral leukocoria, retinal detachment, and a retrolental mass in a microphthalmic eye based on retinal dysplasia with concurrent optic nerve aplasia. Dysplastic retinal tissue, a rare congenital defect, may create a clinical and radiologic picture of an intraocular mass closely resembling tumor tissue. MR imaging findings with histopathologic correlation are presented to facilitate discrimination of the more common causes of leukocoria.

Retinoblastoma and retinal astrocytoma: unusual double tumour in one eye

In the recent literature there is controversy regarding the histopathological origin of retinoblastoma (RB) and retinal astrocytoma (RA). The common origin of both tumours from a multipotential stem cell has been studied in RB cell lines Y-79 and fresh RB materials with immunohistological techniques using GFAP (glial fibrillary acid protein), NSE (neuron specific enolase), photoreceptor cell markers (S-100, myelin basic protein), and synaptophysin.1–8 In immunohistopathological studies indications have been found for differentiation of RB into a neuronal and a partial glial pathway.1–8 To our knowledge no reports have been published on the simultaneous occurrence of both an RB and an RA in one eye. We present a case that demonstrates one eye of a 5 year old girl containing those two immunohistologically different tumours. In a 5 year old white girl a divergent strabismus of the right eye was discovered. No family history of RB or phacomatosis was present. Funduscopic examination under anaesthesia showed a central white mass. Nasally inferior in the peripheral retina a second large whitish mass with vitreous seeding on the …

International retinoblastoma staging system helps to bridge the gap.

To the Editor: The publication of an International Retinoblastoma Staging System by Chantada et al. [1] gained our specific interest since we are in the process establishing a collaboration between Indonesia and the Netherlands regarding the treatment of retinoblastoma patients, a twinning project that is supported by the Dutch Cancer Society. The aim of this project is the development of an Indonesian Centre of Expertise for Retinoblastoma (ICER). The clinical presentation of retinoblastoma patients in both collaborating countries is completely different, since Indonesian patients are characterized by advanced disease while Dutch retinoblastoma patients mainly have an early referral with mainly intra-ocular retinoblastoma. One of our basic issues for protocol development was a proper definition of different stages of disease. Standardized descriptions of disease extent are needed to register patients properly, to interpret treatment outcome and to compare Indonesian long-term treatment results with the literature. We discussed many different subtypes of advanced disease that were encountered in daily practice in Indonesia. The earlier St. Jude classification lacks differentiation in extra-ocular presentation of retinoblastoma [2]. The publication of the staging proposed by Chantada et al. offers the opportunity to discuss the staging system profoundly during our meetings. We think that this whole spectrum staging system is very worthwhile; however, we would like to propose two additional aspects to be added to the classification system (Supplemental Table I). First, we would recommend specifying the CNS extension in subclasses IVb 2a chiasmatic, IVb 2b contralateral spread, and IVb 2c other CNS mass [3]. This staging procedure should be feasible with computer tomography as well as with MRI. Such a subclassification would enable stratifying CNS patients further and, when implemented in treatment schedules, the potential differences in prognosis might become clear. Second, we think it is important to classify anterior chamber involvement separately in the subclassification of extra-retinal stages as A1 in the case of cells in the anterior chamber and as A2 in the case of tumor invasion into the tissue of the anterior chamber. This aspect needs development of histopathological consensus. We think that these recommendations may help to define specific subgroups that finally might require specific treatment adaptations. We intend to implement this adapted version of the staging system in the Indonesian treatment guidelines and are grateful to the authors for their effort to propose a whole spectrum staging system to be used internationally.

Gezondheidsproblemen na de behandeling van kinderkanker

SamenvattingChildhood cancer survivors are at increased risk for adverse late effects due to the tumour itself or secondary to treatment with chemotherapy and/or radiotherapy. In the Netherlands paediatric oncology centres have established dedicated late effects clinics. Here specialised care is offered to the survivors, who are also screened for unknown late effects. If necessary, survivors are referred for further diagnostic work-up and treatment. Furthermore the paediatric oncology centres are exploring ways to provide adequate care for adult survivors. Finally, the centres are initiating research in the field of late treatment effects. Two representative case histories are presented.SamenvattingBehandeling van kanker op de kinderleeftijd kan op de (zeer) lange termijn leiden tot late schadelijke effecten met een grote diversiteit, en in ernst variërend van mild tot ernstig of zelfs levensbedreigend. In de kinderoncologische centra zijn speciale poliklinieken voor follow-up op lange termijn in het leven geroepen waar gespecialiseerde zorg geboden wordt aan overlevenden met late effecten en waar nog niet bekende late effecten worden opgespoord. Zo nodig worden patiënten voor aanvullend onderzoek en behandeling doorverwezen. In de verschillende klinieken wordt naar oplossingen gezocht om de overlevenden ook op de volwassen leeftijd de benodigde zorg te kunnen bieden. Naast deze patiëntenzorg wordt er vanuit de kinderoncologische centra wetenschappelijk onderzoek naar de problematiek van late effecten geïnitieerd. De problematiek wordt geschetst aan de hand van twee ziektegeschiedenissen.

Adaptive behavior impaired in children with low-grade glioma

Adaptive behavior, i.e., the performance on daily activities required for personal and social independence, is essential to estimate in children with low‐grade glioma (LGG) since most of them are long‐term survivors. Our aim was to investigate adaptive behavior in children with LGG.