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. 2022 Dec;43(6):789-794.
doi: 10.1080/13816810.2022.2116650. Epub 2022 Sep 13.

Multiplex ligation-dependent probe amplification versus fluorescent in situ hybridization for screening RB1 copy number variations in Egyptian patients with retinoblastoma

Ola M Eid  1 , Hosam El Zomor  2   3 , Amal M Mohamed  1 , Hala T El-Bassyouni  4 , Hanan H Afifi  4 , Moatasem El-Ayadi  2   3 , Sherin H Sadek  5   6 , Saida A Hammad  1 , Sherine I Salem  7   8 , Rana Mahrous  1 , Islam M Fadel  1 , Khaled Refaat  1 , Mahmoud A Afifi  9 , Abdallah E Shelil  5   10 , Othman A O Ziko  11 , Amira A Abdel Azeem  12 , Alaa El-Haddad  2   3
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Multiplex ligation-dependent probe amplification versus fluorescent in situ hybridization for screening RB1 copy number variations in Egyptian patients with retinoblastoma

Ola M Eid et al. Ophthalmic Genet. 2022 Dec.

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.

Keywords: FISH; MLPA; RB1gene; copy number variations; retinoblastoma.

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