Pediatr Blood Cancer
November 2022
Background: The prognosis of childhood acute lymphoblastic leukemia (ALL) in Indonesia, a lower-middle-income country (LMIC), is lower than in high income countries (HICs). The Indonesian ALL2013 protocol resulted in too many toxic deaths (21%) and abandonments (11%). Therefore, we drafted an adapted protocol, ALL2016.
View Article and Find Full Text PDFBackground: Although survival rates for retinoblastoma (RB) are over 95% in high-income countries, its high mortality rate in low and middle-income countries remains a great concern. Few studies investigated treatment outcome and factors contributing to RB survival in these latter settings. Aims of this study are to determine treatment outcome of Indonesian children diagnosed with RB and to explore factors predictive of treatment outcome.
View Article and Find Full Text PDFActa Ophthalmol
February 2022
Purpose: To determine the risk of patients with an early diagnosis of heritable retinoblastoma being diagnosed with TRb (or pineoblastoma) asynchronously in a later stage and its effect on screening.
Methods: We updated the search (PubMed and Embase) for published literature as performed by our research group in 2014 and 2019. Trilateral retinoblastoma (TRb) patients were eligible for inclusion if identifiable as unique and the age at which TRb was diagnosed was available.
Recognizing a tumor predisposition syndrome (TPS) in a child with cancer is of clinical relevance. Earlier we developed a screening tool to increase diagnostic accuracy and clinical efficiency of identifying TPSs in children with cancer. Here we report on the value of this tool in clinical practice.
View Article and Find Full Text PDFPurpose: To generate recommendations for long-term follow-up of adult survivors of heritable retinoblastoma.
Design: We convened a meeting of providers from retinoblastoma centers around the world to review the state of the science and to evaluate the published evidence.
Participants: Retinoblastoma is a rare childhood cancer of the retina.
Topic: To determine the age up to which children are at risk of trilateral retinoblastoma (TRb) developing, whether its onset is linked to the age at which intraocular retinoblastomas develop, and the lead time from a detectable pineal TRb to symptoms.
Clinical Relevance: Approximately 45% of patients with retinoblastoma-those with a germline RB1 pathogenic variant-are at risk of pineal TRb developing. Early detection and treatment are essential for survival.
Purpose: The current study aimed to evaluate the feasibility of RetinoQuest in clinical practice, from survivors and healthcare professionals' (HCPs) point of view.
Methods: RetinoQuest is a touch screen computer program to monitor health-related quality of life (HRQoL) of retinoblastoma survivors via patient-reported outcome measures (PROMs) targeting children (4-10 years) as evaluated by their parents (proxy measures), adolescents (11-18 years), and adults. Feasibility was evaluated by the actual time taken to complete the PROMs, acceptability of the time as perceived by the users, the content of PROMs in RetinoQuest, and overall satisfaction with RetinoQuest.
BMJ Open
January 2017
Introduction: Recognising a tumour predisposition syndrome (TPS) in patients with childhood cancer is of significant clinical relevance, as it affects treatment, prognosis and facilitates genetic counselling. Previous studies revealed that only half of the known TPSs are recognised during standard paediatric cancer care. In current medical practice it is impossible to refer every patient with childhood cancer to a clinical geneticist, due to limited capacity for routine genetic consultation.
View Article and Find Full Text PDFOphthalmic Genet
November 2017
Background: Children treated for retinoblastoma with carboplatin have an increased risk for ototoxicity. Impaired hearing may have major consequences for these children, because they often suffer from reduced vision. Previous studies have shown limited information on the incidence and severity of carboplatin-induced ototoxicity and the used audiologic methods.
View Article and Find Full Text PDFAm J Ophthalmol
December 2015
Purpose: To estimate the incidence of trilateral retinoblastoma in patients with retinoblastoma.
Design: Systematic review and meta-analysis.
Methods: We searched Medline and Embase for scientific literature published between January 1966 and July 2015 that assessed trilateral retinoblastoma incidence.
Background: About 5% of children with retinoblastoma from germline mutation of the RB1 gene are at risk of developing trilateral retinoblastoma--intraocular retinoblastoma combined with a histologically similar brain tumour, most commonly in the pineal gland. We aimed to provide a systematic overview of published data for trilateral retinoblastoma, and to analyse how survival has changed.
Methods: We searched Medline and Embase for scientific literature published between Jan 1, 1966, and April 14, 2014, that assessed trilateral retinoblastoma cases.
Genes Chromosomes Cancer
January 2014
Both hereditary and nonhereditary retinoblastoma (Rb) are commonly initiated by loss of both copies of the retinoblastoma tumor suppressor gene (RB1), while additional genomic changes are required for tumor initiation and progression. Our aim was to determine whether there is genomic heterogeneity between different clinical Rb subtypes. Therefore, 21 Rb tumors from 11 hereditary patients and 10 nonhereditary Rb patients were analyzed using high-resolution single nucleotide polymorphism (SNP) arrays and gene losses and gains were validated with Multiplex Ligation-dependent Probe Amplification.
View Article and Find Full Text PDFObjectives: Comparison of the effect of corticosteroid therapy on the diagnostic performance of cystatin C (Cys) and beta-trace protein (bTP), two endogenous markers of GFR.
Design And Methods: Out of a total of 193 pediatric inulin clearance studies, a random sample of 85 steroid-free studies served to establish GFR prediction equations (eGFR), which were used to compare the remaining 76 steroid-free and 32 steroid-positive studies (median prednisone dose 33.0 mg m(-2) day(-1)).