18 results on '"Kors, Wijnanda A."'
Search Results
2. The Incidence of Trilateral Retinoblastoma: A Systematic Review and Meta-Analysis
- Author
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de Jong, Marcus C., Kors, Wijnanda A., de Graaf, Pim, Castelijns, Jonas A., Moll, Annette C., and Kivelä, Tero
- Published
- 2015
- Full Text
- View/download PDF
3. Feasibility of RetinoQuest: e-health application to facilitate and improve additional care for retinoblastoma survivors
- Author
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McNeill, Nuray A., Kors, Wijnanda A., Bosscha, Machteld I., van Dijk, Jennifer, Fabius, Armida W. M., Houffelaar, Ton, Verdonck-de Leeuw, Irma M., and Moll, Annette C.
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- 2017
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- View/download PDF
4. Trilateral retinoblastoma: a systematic review and meta-analysis
- Author
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de Jong, Marcus C, Kors, Wijnanda A, de Graaf, Pim, Castelijns, Jonas A, Kivelä, Tero, and Moll, Annette C
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- 2014
- Full Text
- View/download PDF
5. Childhood acute lymphoblastic leukemia: Four years evaluation of protocols 2013 and 2016 in a single center in Indonesia, a lower‐middle‐income country.
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Sutaryo, Sutaryo, Widjajanto, Pudjo Hagung, Mulatsih, Sri, Ardianto, Bambang, Pangarso, Alexandra Widita Swipratami, Supriyadi, Eddy, Purwanto, Ignatius, Adelin, Claudia Priska, Lestari, Rahmadani Puji, Sagoro, Lintang, Christian, Scholastika Dita, Sabrina, Dea Sella, Verena, Natasha, Kors, Wijnanda Adriana, Kaspers, Gertjan J. L., and Veerman, Anjo J. P.
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- 2022
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- View/download PDF
6. Beta-trace protein is not superior to cystatin C for the estimation of GFR in patients receiving corticosteroids
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Abbink, Floor C.H., Laarman, Céleste A.R.C., Braam, Katja I., van Wijk, Joanna A.E., Kors, Wijnanda A., Bouman, Anna A., Spreeuwenberg, Marieke D., Stoffel-Wagner, Birgit, and Bökenkamp, Arend
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- 2008
- Full Text
- View/download PDF
7. Screening for pineal trilateral retinoblastoma revisited: a meta-analysis
- Author
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de Jong, Marcus C, Kors, Wijnanda A, Moll, Annette C, de Graaf, Pim, Castelijns, Jonas A, Jansen, Robin W, Gallie, Brenda, Soliman, Sameh E, Shaikh, Furqan, Dimaras, Helen, Kivelä, Tero T, HUS Head and Neck Center, Silmäklinikka, Department of Ophthalmology and Otorhinolaryngology, University of Helsinki, and Helsinki University Hospital Area
- Subjects
endocrine system ,AGED 0-5 YEARS ,MRI-BASED ASSESSMENT ,PINEALOBLASTOMA ,screening ,CHILDREN ,lead time ,eye diseases ,retinoblastoma ,period at risk ,HIGH-DOSE CHEMOTHERAPY ,GLAND ,STEM-CELL RESCUE ,trilateral retinoblastoma ,INTRAARTERIAL ,3125 Otorhinolaryngology, ophthalmology ,LARGE POPULATION ,pineoblastoma ,MRI - Abstract
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. Current evidence is unclear regarding the usefulness of screening for pineal TRb and, if useful, the age up to which screening should be continued.METHODS: We conducted a study according to the Meta-analysis of Observational Studies in Epidemiology guidelines for reporting meta-analyses of observational studies. We searched PubMed and Embase between January 1, 1966, and February 27, 2019, for published literature. We considered articles reporting patients with TRb with survival and follow-up data. Inclusion of articles was performed separately and independently by 2 authors, and 2 authors also independently extracted the relevant data. They resolved discrepancies by consensus.RESULTS: One hundred thirty-eight patients with pineal TRb were included. Of 22 asymptomatic patients, 21 (95%) were diagnosed before the age of 40 months (median, 16 months; interquartile range, 9-29 months). Age at diagnosis of pineal TRb in patients diagnosed with retinoblastoma at 6 months or younger versus older than 6 months were comparable (P = 0.44), suggesting independence between the ages at diagnosis of intraocular retinoblastoma and pineal TRb. The laterality of intraocular retinoblastoma and its treatment were not associated with the age at which pineal TRb was diagnosed. The lead time from asymptomatic to symptomatic pineal TRb was approximately 1 year. By performing a screening magnetic resonance imaging scan every 6 months after the diagnosis of heritable retinoblastoma (median age, 6 months) until 36 months of age, at least 311 and 776 scans would be required to detect 1 case of asymptomatic pineal TRb and to save a single life, respectively.CONCLUSIONS: Patients with retinoblastoma are at risk of pineal TRb developing for a shorter period than previously assumed, and the age at diagnosis of pineal TRb is independent of the age at diagnosis of retinoblastoma. The GRADE (Grading of Recommendations Assessment, Development and Evaluation) level of evidence for these conclusions remains low.
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- 2020
8. Asynchronous pineoblastoma is more likely after early diagnosis of retinoblastoma: a meta‐analysis.
- Author
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de Jong, Marcus C., Shaikh, Furqan, Gallie, Brenda, Kors, Wijnanda A., Jansen, Robin W., Dommering, Charlotte, de Graaf, Pim, Moll, Annette C., Dimaras, Helen, Shroff, Manohar, Kivelä, Tero T., and Soliman, Sameh E.
- Subjects
EARLY diagnosis ,RETINOBLASTOMA ,MEDICAL screening ,MAGNETIC resonance imaging - Abstract
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. The search yielded 97 new studies. Three new studies and eight new patients were included. Combined with 189 patients from the previous meta‐analysis, the database included 197 patients. The main outcome was the percentage of asynchronous TRb in patients diagnosed before and after preset age thresholds of 6 and 12 months of age at retinoblastoma diagnosis. Results: Seventy‐nine per cent of patients with pineoblastoma are diagnosed with retinoblastoma before the age of 12 months. However, baseline MRI screening at time of retinoblastoma diagnosis fails to detect the later diagnosed pineal TRb in 89% of patients. We modelled that an additional MRI performed at the age of 29 months picks up 53% of pineoblastomas in an asymptomatic phase. The detection rate increased to 72%, 87% and 92%, respectively, with 2, 3 and 4 additional MRIs. Conclusions: An MRI of the brain in heritable retinoblastoma before the age of 12 months misses most pineoblastomas, while retinoblastomas are diagnosed most often before the age of 12 months. Optimally timed additional MRI scans of the brain can increase the asymptomatic detection rate of pineoblastoma. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
9. Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS) : Protocol for a prospective, observational, multicentre study
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Postema, Floor A M, Hopman, Saskia M J, de Borgie, Corianne A J M, Hammond, Peter, Hennekam, Raoul C, Merks, Johannes H M, Aalfs, Cora M, Anninga, Jakob K, Berger, Lieke PV, Bleeker, Fonnet E, de Bont, Eveline SJM, de Borgie, Corianne AJM, Dommering, Charlotte J, van Eijkelenburg, Natasha KA, van den Heuvel-Eibrink, Marry M, Hopman, Saskia MJ, Jongmans, Marjolijn CJ, Kors, Wijnanda A, Letteboer, Tom GW, Loeffen, Jan LCM, Merks, Johannes HM, Olderode-Berends, Maran JW, Postema, Floor AM, Wagner, Anja, Human genetics, CCA - Cancer Treatment and quality of life, Amsterdam Reproduction & Development (AR&D), Pediatric surgery, CCA - Cancer Treatment and Quality of Life, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Other departments, Paediatric Oncology, APH - Methodology, APH - Quality of Care, Paediatric Genetics, and Human Genetics
- Subjects
0301 basic medicine ,Male ,Pediatrics ,Screening Instrument ,Neoplasms ,Protocol ,Photography ,Mass Screening ,Prospective Studies ,Child ,GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries) ,Netherlands ,Medicine(all) ,General Medicine ,Syndrome ,Checklist ,Research Design ,Child, Preschool ,Medical genetics ,Female ,Cohort study ,Rare cancers Radboud Institute for Health Sciences [Radboudumc 9] ,Morphology ,medicine.medical_specialty ,Adolescent ,Genetic counseling ,Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0] ,3D photography ,03 medical and health sciences ,medicine ,Journal Article ,Humans ,Clinical significance ,Genetic Predisposition to Disease ,Instrument Data ,business.industry ,Genetic Diseases, Inborn ,Infant, Newborn ,Infant ,Paediatrics ,Geneticist ,030104 developmental biology ,Family medicine ,Observational study ,business - Abstract
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. Therefore, we have developed a screening instrument to identify patients with childhood cancer with a high probability of having a TPS. The aim of this study is to validate the clinical screening instrument for TPS in patients with childhood cancer. Methods and analysis This study is a prospective nationwide cohort study including all newly diagnosed patients with childhood cancer in the Netherlands. The screening instrument consists of a checklist, two- and three-dimensional photographic series of the patient. 2 independent clinical geneticists will assess the content of the screening instrument. If a TPS is suspected based on the instrument data and thus further evaluation is indicated, the patient will be invited for full genetic consultation. A negative control group consists of 20% of the patients in whom a TPS is not suspected based on the instrument; they will be randomly invited for full genetic consultation. Primary outcome measurement will be sensitivity of the instrument. Ethics and dissemination The Medical Ethical Committee of the Academic Medical Centre stated that the Medical Research Involving Human Subjects Act does not apply to this study and that official approval of this study by the Committee was not required. The results will be offered for publication in peer-reviewed journals and presented at International Conferences on Oncology and Clinical Genetics. The clinical data gathered in this study will be available for all participating centres. Trial registration number NTR5605.
- Published
- 2017
10. Screening for Pineal Trilateral Retinoblastoma Revisited: A Meta-analysis.
- Author
-
de Jong, Marcus C., Kors, Wijnanda A., Moll, Annette C., de Graaf, Pim, Castelijns, Jonas A., Jansen, Robin W., Gallie, Brenda, Soliman, Sameh E., Shaikh, Furqan, Dimaras, Helen, and Kivelä, Tero T.
- Subjects
- *
RETINOBLASTOMA , *MAGNETIC shielding , *MAGNETIC resonance imaging , *LEAD time (Supply chain management) - Abstract
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. 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. Current evidence is unclear regarding the usefulness of screening for pineal TRb and, if useful, the age up to which screening should be continued. We conducted a study according to the Meta-analysis of Observational Studies in Epidemiology guidelines for reporting meta-analyses of observational studies. We searched PubMed and Embase between January 1, 1966, and February 27, 2019, for published literature. We considered articles reporting patients with TRb with survival and follow-up data. Inclusion of articles was performed separately and independently by 2 authors, and 2 authors also independently extracted the relevant data. They resolved discrepancies by consensus. One hundred thirty-eight patients with pineal TRb were included. Of 22 asymptomatic patients, 21 (95%) were diagnosed before the age of 40 months (median, 16 months; interquartile range, 9–29 months). Age at diagnosis of pineal TRb in patients diagnosed with retinoblastoma at 6 months or younger versus older than 6 months were comparable (P = 0.44), suggesting independence between the ages at diagnosis of intraocular retinoblastoma and pineal TRb. The laterality of intraocular retinoblastoma and its treatment were not associated with the age at which pineal TRb was diagnosed. The lead time from asymptomatic to symptomatic pineal TRb was approximately 1 year. By performing a screening magnetic resonance imaging scan every 6 months after the diagnosis of heritable retinoblastoma (median age, 6 months) until 36 months of age, at least 311 and 776 scans would be required to detect 1 case of asymptomatic pineal TRb and to save a single life, respectively. Patients with retinoblastoma are at risk of pineal TRb developing for a shorter period than previously assumed, and the age at diagnosis of pineal TRb is independent of the age at diagnosis of retinoblastoma. The GRADE (Grading of Recommendations Assessment, Development and Evaluation) level of evidence for these conclusions remains low. [ABSTRACT FROM AUTHOR]
- Published
- 2020
- Full Text
- View/download PDF
11. High resolution SNP array profiling identifies variability in retinoblastoma genome stability
- Author
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Mol, Berber M., Massink, Maarten P. G., van der Hout, Annemarie H., Dommering, Charlotte J., Zaman, Johannes M. A., Bosscha, Machteld I., Kors, Wijnanda A., Meijers-Heijboer, Hanne E., Kaspers, Gertjan J. L., te Riele, Hein, Moll, Annette C., Cloos, Jacqueline, and Dorsman, Josephine C.
- Subjects
EXPRESSION ,GENES ,CARCINOMA ,INTEGRATED ANALYSIS ,MEDULLOBLASTOMA ,SURVIVAL ,AMPLIFICATION ,CHROMOSOMAL INSTABILITY ,HUMAN CANCERS ,HYBRIDIZATION - Abstract
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. In these tumors only a few focal aberrations were detected. The most frequent was a focal gain on chromosome 2p24.3, the minimal region of gain encompassing the oncogene MYCN. The genes BAZ1A, OTX2, FUT8, and AKT1 were detected in four focal regions on chromosome 14 in one nonhereditary Rb. There was a large difference in number of copy number aberrations between tumors. A subset of nonhereditary Rbs turned out to be the most genomic unstable, while especially very young patients with hereditary Rb display stable genomes. Established Rb copy number aberrations, including gain of chromosome arm 1q and loss of chromosome arm 16q, turned out to be preferentially associated with the nonhereditary Rbs with later age of diagnosis. In contrast, copy number neutral loss of heterozygosity was detected mainly on chromosome 13, where RB1 resides, irrespective of hereditary status or age. Focal amplifications and deletions and copy number neutral loss of heterozygosity besides chromosome 13 appear to be rare events in retinoblastoma. (c) 2013 Wiley Periodicals, Inc.
- Published
- 2014
12. Long-term audiologic follow-up of carboplatin-treated children with retinoblastoma.
- Author
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Geurtsen, Madelon L., Kors, Wijnanda A., Moll, Annette C., and Smits, Cas
- Subjects
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CARBOPLATIN , *RETINOBLASTOMA , *OTOTOXICITY , *AUDIOLOGISTS , *DEAFNESS - Abstract
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. The frequency of audiological testing is often limited and the audiologic follow-up time is relatively short. Objective: The aim of this study was to determine the long-term effects of carboplatin ototoxicity in children with retinoblastoma. Materials and methods: In this retrospective non-randomized single center cohort study, we reviewed audiologic results of 25 patients. Experienced audiologists analyzed the pure-tone audiograms. Results: All patients had normal hearing prior to therapy and had a mean age of 11 months at first carboplatin administration. The mean audiologic follow-up was 12.0 years with a median of 11.6 (IQR 4.8) years. Three patients were excluded: two passed away and one could not participate in the audiologic tests. One of the 22 included patients developed sustained low-grade bilateral high-frequency hearing loss between 2 and 7 years after the last carboplatin dose. In one patient it was not possible to make a reliable conclusion due to a conductive hearing loss component. Twenty patients had normal hearing. Conclusions: We observed no clear effect between carboplatin administration in young children and clinical significant ototoxicity in the long term. One child showed low-grade bilateral high-frequency hearing loss. [ABSTRACT FROM PUBLISHER]
- Published
- 2017
- Full Text
- View/download PDF
13. Recommendations for Long-Term Follow-up of Adults with Heritable Retinoblastoma.
- Author
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Tonorezos, Emily S., Friedman, Danielle Novetsky, Barnea, Dana, Bosscha, Machteld I., Chantada, Guillermo, Dommering, Charlotte J., de Graaf, Pim, Dunkel, Ira J., Fabius, Armida W.M., Francis, Jasmine H., Greer, Mary-Louise C., Kleinerman, Ruth A., Kors, Wijnanda A., Laughlin, Suzanne, Moll, Annette C., Morton, Lindsay M., Temming, Petra, Tucker, Margaret A., van Leeuwen, Flora E., and Walsh, Michael F.
- Subjects
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LEIOMYOSARCOMA , *SARCOMA , *ISOLATION perfusion , *RETINOBLASTOMA , *CHILDHOOD cancer , *SYMPTOMS ,CENTRAL nervous system tumors - Abstract
To generate recommendations for long-term follow-up of adult survivors of heritable retinoblastoma. 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. Retinoblastoma is a rare childhood cancer of the retina. Approximately 40% of retinoblastoma cases are heritable, resulting from a germline mutation in RB1. Dramatic improvements in treatment and supportive care have resulted in a growing adult survivor population. However, survivors of heritable retinoblastoma have a significantly increased risk of subsequent malignant neoplasms, particularly bone and soft tissue sarcomas, uterine leiomyosarcoma, melanomas, and radiotherapy-related central nervous system tumors, which are associated with excess morbidity and mortality. Despite these risks, no surveillance recommendations for this population currently are in place, and surveillance practices vary widely by center. Following the Institute of Medicine procedure for clinical practice guideline development, a PubMed, EMBASE, and Web of Science search was performed, resulting in 139 articles; after abstract and full-text review, 37 articles underwent detailed data abstraction to quantify risk and evidence regarding surveillance, if available. During an in-person meeting, evidence was presented and discussed, resulting in consensus recommendations. Diagnosis and mortality from subsequent neoplasm. Although evidence for risk of subsequent neoplasm, especially sarcoma and melanoma, was significant, evidence supporting routine testing of asymptomatic survivors was not identified. Skin examination for melanoma and prompt evaluation of signs and symptoms of head and neck disease were determined to be prudent. This review of the literature confirmed some of the common second cancers in retinoblastoma survivors but found little evidence for a benefit from currently available surveillance for these malignancies. Future research should incorporate international partners, patients, and family members. [ABSTRACT FROM AUTHOR]
- Published
- 2020
- Full Text
- View/download PDF
14. Treatment Outcome of Children with Retinoblastoma in a Tertiary Care Referral Hospital in Indonesia.
- Author
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Handayani K, Indraswari BW, Sitaresmi MN, Mulatsih S, Widjajanto PH, Kors WA, Kaspers GJ, and Mostert S
- Subjects
- Adolescent, Child, Child, Preschool, Combined Modality Therapy, Female, Follow-Up Studies, Humans, Indonesia epidemiology, Infant, Infant, Newborn, Male, Retinal Neoplasms epidemiology, Retinal Neoplasms pathology, Retinal Neoplasms therapy, Retinoblastoma epidemiology, Retinoblastoma pathology, Retinoblastoma therapy, Retrospective Studies, Survival Rate, Treatment Outcome, Antineoplastic Combined Chemotherapy Protocols therapeutic use, Eye Enucleation mortality, Retinal Neoplasms mortality, Retinoblastoma mortality, Tertiary Healthcare statistics & numerical data
- Abstract
Background: 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. Methods: This study was a retrospective medical records review combined with an illustrative case report. Children newly diagnosed with RB between January 2011 and December 2016 at a tertiary care referral hospital in Indonesia were included. A home visit was conducted to perform an in-depth interview with a mother of two children affected by RB. Results: Of all 61 children with RB, 39% abandoned treatment, 21% died, 20% had progressive or relapsed disease and 20% event-free survival. Progressive or relapsed disease was more common in older (≥ 2 years at diagnosis, 29%) than young (<2 years at diagnosis, 0%) children (P=0.012). Event-free survival estimate at 5 years was higher in young (42%) than older (6%) children (P=0.045). Odds-ratio for event-free survival was 6.9 (95% CI: 1.747 – 27.328, P=0.006) for young versus older children. Other clinical and socio-demographic characteristics had no significant correlation with treatment outcome or event-free survival. The case report elucidated conditions and obstacles that Indonesian families face when their children are diagnosed with RB. Conclusion: Survival of children with RB in Indonesia is much lower compared to high-income and many other low and middle-income countries. Abandonment of treatment is the most common cause of treatment failure. Older age at diagnosis is associated with more progressive or relapsed disease and worse survival. Interventions to improve general public and health-care providers’ awareness, early detection and treatment adherence are required.
- Published
- 2021
- Full Text
- View/download PDF
15. Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study.
- Author
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Postema FA, Hopman SM, de Borgie CA, Hammond P, Hennekam RC, Merks JH, Aalfs CM, Anninga JK, Berger LP, Bleeker FE, de Bont ES, de Borgie CA, Dommering CJ, van Eijkelenburg NK, Hammond P, Hennekam RC, van den Heuvel-Eibrink MM, Hopman SM, Jongmans MC, Kors WA, Letteboer TG, Loeffen JL, Merks JH, Olderode-Berends MJ, Postema FA, and Wagner A
- Subjects
- Adolescent, Checklist, Child, Child, Preschool, Female, Genetic Predisposition to Disease, Humans, Infant, Infant, Newborn, Male, Neoplasms etiology, Netherlands, Photography, Prospective Studies, Research Design, Syndrome, Genetic Diseases, Inborn diagnosis, Mass Screening methods, Neoplasms genetics
- Abstract
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. Therefore, we have developed a screening instrument to identify patients with childhood cancer with a high probability of having a TPS. The aim of this study is to validate the clinical screening instrument for TPS in patients with childhood cancer., Methods and Analysis: This study is a prospective nationwide cohort study including all newly diagnosed patients with childhood cancer in the Netherlands. The screening instrument consists of a checklist, two- and three-dimensional photographic series of the patient. 2 independent clinical geneticists will assess the content of the screening instrument. If a TPS is suspected based on the instrument data and thus further evaluation is indicated, the patient will be invited for full genetic consultation. A negative control group consists of 20% of the patients in whom a TPS is not suspected based on the instrument; they will be randomly invited for full genetic consultation. Primary outcome measurement will be sensitivity of the instrument., Ethics and Dissemination: The Medical Ethical Committee of the Academic Medical Centre stated that the Medical Research Involving Human Subjects Act does not apply to this study and that official approval of this study by the Committee was not required. The results will be offered for publication in peer-reviewed journals and presented at International Conferences on Oncology and Clinical Genetics. The clinical data gathered in this study will be available for all participating centres., Trial Registration Number: NTR5605., Competing Interests: Conflicts of Interest: None declared., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.)
- Published
- 2017
- Full Text
- View/download PDF
16. High resolution SNP array profiling identifies variability in retinoblastoma genome stability.
- Author
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Mol BM, Massink MP, van der Hout AH, Dommering CJ, Zaman JM, Bosscha MI, Kors WA, Meijers-Heijboer HE, Kaspers GJ, Riele Ht, Moll AC, Cloos J, and Dorsman JC
- Subjects
- Child, Preschool, Chromosomes, Human, Pair 13 genetics, Chromosomes, Human, Pair 14 genetics, Cluster Analysis, Female, Gene Dosage, Genes, Retinoblastoma, Humans, Infant, Loss of Heterozygosity, Male, Oligonucleotide Array Sequence Analysis, Genomic Instability, Polymorphism, Single Nucleotide, Retinal Neoplasms genetics, Retinoblastoma genetics
- Abstract
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. In these tumors only a few focal aberrations were detected. The most frequent was a focal gain on chromosome 2p24.3, the minimal region of gain encompassing the oncogene MYCN. The genes BAZ1A, OTX2, FUT8, and AKT1 were detected in four focal regions on chromosome 14 in one nonhereditary Rb. There was a large difference in number of copy number aberrations between tumors. A subset of nonhereditary Rbs turned out to be the most genomic unstable, while especially very young patients with hereditary Rb display stable genomes. Established Rb copy number aberrations, including gain of chromosome arm 1q and loss of chromosome arm 16q, turned out to be preferentially associated with the nonhereditary Rbs with later age of diagnosis. In contrast, copy number neutral loss of heterozygosity was detected mainly on chromosome 13, where RB1 resides, irrespective of hereditary status or age. Focal amplifications and deletions and copy number neutral loss of heterozygosity besides chromosome 13 appear to be rare events in retinoblastoma., (Copyright © 2013 Wiley Periodicals, Inc.)
- Published
- 2014
- Full Text
- View/download PDF
17. Postoperative hemicerebellar inflammation mimicking recurrent tumor after resection of a medulloblastoma. Case report.
- Author
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Luijnenburg SE, Hanlo PW, Han KS, Kors WA, Witkamp TD, and Verbeke JI
- Subjects
- Child, Preschool, Diagnosis, Differential, Humans, Inflammation diagnosis, Magnetic Resonance Imaging, Male, Postoperative Complications, Brain Neoplasms surgery, Medulloblastoma surgery, Neoplasm Recurrence, Local diagnosis
- Abstract
The authors present the case of a 4-year-old boy in whom a medulloblastoma in the left cerebellar hemisphere was successfully resected with no signs of residual tumor on the postoperative magnetic resonance (MR) images. A second MR imaging study performed 1 month after surgery demonstrated an extensive, contrast-enhancing lesion in the left cerebellar hemisphere, which simulated massive recurrent tumor, and repeated surgery was considered. A third postoperative MR imaging study, performed for evaluation of the craniospinal axis 10 days after the second postoperative study, still showed some contrast enhancement in the left cerebellar hemisphere, but the lesion had almost disappeared. Postoperative hemicerebellar inflammation seemed to be the most likely explanation. This case illustrates that early postoperative inflammation can mimic recurrent tumor on MR images obtained after resection of a medulloblastoma and caution should be taken in interpreting such images. Clinical history, neurological examination, laboratory findings, and repeated MR imaging studies can be helpful in evaluating the patient accurately.
- Published
- 2008
- Full Text
- View/download PDF
18. Effect of corticosteroid therapy on low-molecular weight protein markers of kidney function.
- Author
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Bökenkamp A, Laarman CA, Braam KI, van Wijk JA, Kors WA, Kool M, de Valk J, Bouman AA, Spreeuwenberg MD, and Stoffel-Wagner B
- Subjects
- Biomarkers blood, Child, Cystatin C, Glomerular Filtration Rate, Humans, Kidney physiopathology, Kidney Diseases drug therapy, Kidney Diseases physiopathology, Molecular Weight, Neoplasms drug therapy, Neoplasms physiopathology, Adrenal Cortex Hormones therapeutic use, Cystatins blood, Intramolecular Oxidoreductases blood, Kidney drug effects, Lipocalins blood, beta 2-Microglobulin blood
- Published
- 2007
- Full Text
- View/download PDF
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