The RB1 gene mutation in a child with ectopic intracranial retinoblastoma

Onadim, Zerrin; Woolford, AJ; Kingston, J E; Hungerford, J L

doi:10.1038/bjc.1997.570

Cited by 8 publications

(4 citation statements)

References 36 publications

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“…1733) with 13q loss were analyzed using gene polymorphism assay. In this experiment, 100 ng of tumor DNA was ampli¢ed with the £uorescently labeled primer sets for Rbi.2 (microsatellite) and RB1.20 (variable number tandem repeat, VNTR) (Onadim et al, 1992(Onadim et al, , 1997, and the PCR products were then analyzed for intragenic RB1 polymorphism using ALFexpress automatic sequencer (Amersham Biosciences, Bucks, UK).…”

Section: Samplesmentioning

confidence: 99%

Genomic Alterations in Blastic Natural Killer/Extranodal Natural Killer-Like T Cell Lymphoma with Cutaneous Involvement

Mao

Onadim²,

Price³

et al. 2003

Journal of Investigative Dermatology

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Natural killer and natural killer-like T cell lymphomas represent a rare type of non-Hodgkin's lymphoma originally described to involve the upper aerodigestive tract. This malignancy has been increasingly observed in other extranodal sites, particularly in the skin. Patients with cutaneous natural killer cell lymphoma generally have a poor prognosis; however, the etiology and the underlying molecular pathogenesis remain unclear. This study aimed to investigate comprehensively genomic changes in blastic natural killer and extranodal natural killer-like T cell lymphoma with cutaneous involvement. Comparative genomic hybridization showed chromosome imbalances in six of eight cases studied (75%). The mean number of chromosome imbalances per sample was 2.18+/-1.63 with similar number of gains (1.18+/-1.17) and losses (1.00+/-1.34). The most frequent DNA copy number changes observed were losses of 9/9p (83%), followed by loss of 13q and gain of 7 (67%). Similar patterns of chromosome imbalances were observed in both blastic natural killer and cutaneous natural killer-like T cell lymphomas. Loss of the RB1 gene at 13q14.2 was detected in one blastic natural killer cell lymphoma with 13q loss using a gene dosage assay, and in one cutaneous natural killer-like T cell lymphoma without 13q loss using fluorescent in situ hybridization. Genomic microarray analysis identified oncogene copy number gains of PAK1 and JUNB in three of four cases studied, and gains of RAF1, CTSB, FGFR1, and BCR in two cases. Real-time polymerase chain reaction detected amplification of CTSB and RAF1 in four of five cases analyzed, JUNB and MYCN in three cases, and REL and YES1 in two cases, respectively. In conjunction with this study, an extensive literature search for the published G-banded karyotypes of four subsets of natural killer cell lymphomas was conducted, which showed a nonrandom pattern of multiple chromosome aberrations. These results reveal consistent genetic alterations in cutaneous natural killer cell lymphomas, and provide a basis for further investigation of molecular pathogenesis in this malignancy.

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Section: Samplesmentioning

confidence: 99%

Genomic Alterations in Blastic Natural Killer/Extranodal Natural Killer-Like T Cell Lymphoma with Cutaneous Involvement

Mao

Onadim²,

Price³

et al. 2003

Journal of Investigative Dermatology

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“…Observed variables include laterality of retinoblastoma, age and tumor stage at initial diagnosis, and, in some patients, the number of independent tumor foci. Some patients also show retinoma, which are essentially benign retinal lesions, or develop embryonic midline tumors such as pineoblastoma [ 21 , 22 , 23 ]. Patients with heritable retinoblastoma have a higher risk of extraocular malignancies (second primary malignancies, SPM) later in life compared to children without constitutional RB1 variant [ 24 , 25 , 26 ].…”

Section: Introductionmentioning

confidence: 99%

Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma

Hülsenbeck

Frank

Biewald

et al. 2021

Cancers

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Constitutional haploinsufficiency of the RB1 gene causes heritable retinoblastoma, a tumor predisposition syndrome. Patients with heritable retinoblastoma develop multiple retinoblastomas early in childhood and other extraocular tumors later in life. Constitutional pathogenic variants in RB1 are heterogeneous, and a few genotype-phenotype correlations have been described. To identify further genotype-phenotype relationships, we developed the retinoblastoma variant effect classification (REC), which considers each variant’s predicted effects on the common causal mediator, RB1 protein pRB. For validation, the RB1 variants of 287 patients were grouped according to REC. Multiple aspects of phenotypic expression were analyzed, known genotype-phenotype associations were revised, and new relationships were explored. Phenotypic expression of patients with REC-I, -II, and -III was distinct. Remarkably, the phenotype of patients with variants causing residual amounts of truncated pRB (REC-I) was more severe than patients with complete loss of RB1 (REC-II). The age of diagnosis of REC-I variants appeared to be distinct depending on truncation’s localization relative to pRB structure domains. REC classes identify genotype-phenotype relationships and, therefore, this classification framework may serve as a tool to develop tailored tumor screening programs depending on the type of RB1 variant.

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“…Compound terms such as "pineal tumour" and "retinal tumour" are often combined or coordinated to form a single phrase, as in "pineal and retinal tumours" [45]. Although simple coordinated phrases often improve readability, the number of possible interpretations for complex coordinated phrases quickly make them difficult to interpret.…”

Section: Tip 7: Coordinate Compound Terms Cautiouslymentioning

confidence: 99%

Ten tips for a text-mining-ready article: How to improve automated discoverability and interpretability

et al. 2020

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Data-driven research in biomedical science requires structured, computable data. Increasingly, these data are created with support from automated text mining. Text-mining tools have rapidly matured: although not perfect, they now frequently provide outstanding results. We describe 10 straightforward writing tips-and a web tool, PubReCheck-guiding authors to help address the most common cases that remain difficult for text-mining tools. We anticipate these guides will help authors' work be found more readily and used more widely, ultimately increasing the impact of their work and the overall benefit to both authors and readers. PubReCheck is available at http://www.ncbi.nlm.nih.gov/research/pubrecheck.

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The RB1 gene mutation in a child with ectopic intracranial retinoblastoma

Cited by 8 publications

References 36 publications

Genomic Alterations in Blastic Natural Killer/Extranodal Natural Killer-Like T Cell Lymphoma with Cutaneous Involvement

Genomic Alterations in Blastic Natural Killer/Extranodal Natural Killer-Like T Cell Lymphoma with Cutaneous Involvement

Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma

Ten tips for a text-mining-ready article: How to improve automated discoverability and interpretability

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