https://orcid.org/0000-0002-3898-7117
![Sample our Bioscience journals, sign in here to start your access, Latest two full volumes FREE to you for 14 days]({"type":"image" , "src" : "/sda/5925/TOC-Subject-Sample-2021-Bioscience.jpg"})
ABSTRACT
Background
Retinoblastoma (RB) is the most common primary intraocular malignant tumor in children. RB is mostly caused by biallelic mutations in RB1 and occurs in hereditary and non-hereditary forms according to the “two-hit” theory. RB1 mutations comprise point mutations, indels, large deletions, and duplications. Genetic testing is essential for the comprehensive treatment and management of patients with RB.
Aim
The aim was to evaluate RB1 copy number variations (CNVs) using MLPA versus FISH assays in group of Egyptian patients with RB.
Results
16.67% showed an RB1 deletion, abnormal methylation status, or both.
Conclusion
Our results suggested MLPA is a fast, reliable, and powerful method and should be used as a first-line screening tool for detecting RB1 CNVs in patients with RB. Moreover, MLPA is advantageous as it evaluates the methylation status/inactivation of RB1, not possible by FISH.
Acknowledgement
We would like to express our gratitude to the National Research Centre, Egypt, for giving us the chance to accomplish this study with the help of its updated equipment and instrumentation.
Authors’ contribution
OE: preparing the design of the research, participated in conducting the laboratory work, interpretation of the data, and preparing the paper for submission and final approval of the version to be published. HZ: participated in clinical evaluation of the patients, collection of the blood samples and preparing the paper for submission. AM: providing the idea of this research, participated in performing the laboratory work and preparing the paper for submission. HB: participated in clinical evaluation of the patients, collection of the blood samples and preparing the paper for submission. HA: participated in clinical evaluation of the patients, collection of the blood samples and preparing the paper for submission. MA: participated in clinical evaluation of the patients, collection of the blood samples and preparing the paper for submission. SS: participated in clinical evaluation of the patients, collection of the blood samples and preparing the paper for submission. SH: participated in conducting the laboratory work and preparing the paper for submission. SS: participated in collection of the patients’ data, collection of the blood samples and preparing the paper for submission. RM: participated in conducting the laboratory work and preparing the paper for submission. IF: participated in conducting the laboratory work and preparing the paper for submission. KR: participated in conducting the laboratory work and preparing the paper for submission. MF: participated in collection of the patients’ data and preparing the paper for submission. AS: participated in clinical evaluation of the patients, collection of the blood samples and preparing the paper for submission. OZ: participated in clinical evaluation of the patients, collection of the blood samples and preparing the paper for submission. AA: participated in clinical evaluation of the patients, collection of the blood samples and preparing the paper for submission. AH: participated in clinical evaluation of the patients, collection of the blood samples and preparing the paper for submission. All authors have read and approved the manuscript.
Disclosure statement
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.
Data availability statement
The authors confirm that the data supporting the findings of this study are available within the article.
Ethics approval and consent to participate
The study was approved by the ethical committee of the National Research Centre, Egypt (20–054), which is in accordance with the ethical standards of the Declaration of Helsinki. All participants gave informed written consent before their inclusion in the study.