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  • Title: Multiplex ligation-dependent probe amplification versus fluorescent in situ hybridization for screening RB1 copy number variations in Egyptian patients with retinoblastoma.
    Author: Eid OM, El Zomor H, Mohamed AM, El-Bassyouni HT, Afifi HH, El-Ayadi M, Sadek SH, Hammad SA, Salem SI, Mahrous R, Fadel IM, Refaat K, Afifi MA, Shelil AE, Ziko OAO, Abdel Azeem AA, El-Haddad A.
    Journal: Ophthalmic Genet; 2022 Dec; 43(6):789-794. PubMed ID: 36098066.
    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.
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