Investigation of new candidate genes in retinoblastoma using the TruSight One “clinical exome” gene panel

This study might be an important report on emphazing the mutational status of other genes in patients withoutRB1 gene mutations and having high risk for developing retinoblastoma. The study also indicates the interaction between the retinoic acid pathway and Rb oncogenesis for the first time. AbstractBackgroundRetinoblastoma (Rb) is the most prevalent intraocular pediatric malignancy of the retina. Significant genetic factors are known to have a role in the development of Rb.MethodsHere, we report the mutation status of 4813 clinically significant genes in six patients with noncarrier ofRB1 gene mutation and having normalRB1 promoter methylation from three families having higher risk for developing Rb in the study.ResultsA total of 27 variants were detected in the study. Heterozygous missense variants c.1162G  >  A (p.Gly388Arg) in theFGFR4 gene; c.559C  >  T (p.Pro187Ser) in theNQO1 gene were identified. The family based evaluation of the variants showed that the variant, c.714T  >  G (p.Tyr238Ter), in theCLEC7A gene in first family; the variant, c.55C  >  T (p.Arg19Ter), in theAPOC3 gene and the variant, c.1171C  >  T (p.Gln391Ter), in theMUTYH gene in second family; and the variant, c.211G  >  A (p.Gly71Arg), in theUGT1A1 gene in the third family, were found statistically significant (p 
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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In this study, we have aimed to show and compare the antileukemic effects of aprepitant and L-733,060 on acute and chronic myeloid leukemic cells by using in-vitro experiments, such as WST-1, cell imaging, annexin-V binding, soft agar colony formation, and Hoescht staining. As a result, we have determined that both aprepitant and L-733,060 had strong antiproliferative effects on K562 and HL-60 cells. Moreover, the two drugs caused significant apoptosis and decreased colony forming depending on concentration increase. These findings suggested that NK1R antagonists exhibited antileukemic activities and may be considered to h...
Source: Anti-Cancer Drugs - Category: Cancer & Oncology Tags: Preclinical Reports Source Type: research
We report a case of retinoblastoma regression in the untreated eye following IAC to the contralateral eye.
Source: Saudi Journal of Ophthalmology - Category: Opthalmology Source Type: research
No in-depth systematic evidence is available for assessing retinoblastoma malignancy and eligibility for subsequent treatment.
Source: Journal of Translational Medicine - Category: Research Authors: Tags: Research Source Type: research
To evaluate the safety and efficacy of intra-arterial chemotherapy (IAC) for the primary or secondary treatment of infants diagnosed with advanced retinoblastoma before 3  months of age.
Source: BMC Cancer - Category: Cancer & Oncology Authors: Tags: Research article Source Type: research
This study assesses the central nervous system (CNS) pharmacokinetics and tumor pharmacodynamics of ribociclib, a highly selective CDK4/6-inhibitor, in patients with recurrent glioblastoma. EXPERIMENTAL DESIGN: Recurrent glioblastoma patients with intact retinoblastoma protein (RB) expression and CDKN2A deletion or CDK4/6 amplification were treated with ribociclib daily (900 mg) for 5 days before tumor resection. Blood, tumor, and cerebrospinal fluid (CSF) samples were collected and total and unbound ribociclib concentrations were determined. Pharmacodynamic effects, assessed by RB and FOXM1 phosphorylation, were comp...
Source: Clinical Cancer Research - Category: Cancer & Oncology Authors: Tags: Clin Cancer Res Source Type: research
CONCLUSIONS: Based on our results decorin may be a candidate therapeutic agent in the battle against liver cancer, but several questions need to be answered. It is certain that decorin is capable to exert its suppressor effect in hepatoma cells without respect to their phenotype and molecular background. PMID: 31271881 [PubMed - as supplied by publisher]
Source: Cellular Signalling - Category: Cytology Authors: Tags: Cell Signal Source Type: research
ConclusionsFrom our data we conclude that impairment of the cyclin D-CDK4/6-Rb pathway is a frequent feature of HCC and that it is associated with a unfavourable prognosis. We also found that ribociclib exhibits a preferential antineoplastic activity in Rb-high HCC cells. Our results warrant further investigation of Rb and p16 expression as markers of HCC sensitivity to ribociclib.
Source: Cellular Oncology - Category: Cancer & Oncology Source Type: research
Literature on high-dose chemotherapy followed by autologous stem cell rescue in relapsed retinoblastoma is limited to
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Clinical and Laboratory Observations Source Type: research
Conclusion: Routine fundus screening of siblings allows for early detection of RB in otherwise asymptomatic children. Detection of spontaneously regressed RB in parents may act as a surrogate marker for germline RB1 mutation and is helpful in genetic counseling.
Source: RETINA - Category: Opthalmology Tags: Original Study Source Type: research
In this study, we attempted to ascertain the biological role and underlying regulatory mechanism of SNHG16 in RB progression. The expression levels of SNHG16 were measured in RB tissues and cell lines. The effects of SNHG16 knockdown on the proliferation, colony formation, cell cycle progression and apoptosis were investigated using corresponding experiments. Bioinformatic analysis, luciferase reporter assay, and RNA immunoprecipitation assay were applied to identify potential microRNAs (miRs) that could bind with SNHG16. A nude model was established to investigate the effect of SNHG16 knockdown on tumor growth in vivo. We...
Source: Biomedicine and Pharmacotherapy - Category: Drugs & Pharmacology Source Type: research
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