PMID- 36098066
OWN - NLM
STAT- MEDLINE
DCOM- 20230126
LR  - 20230215
IS  - 1744-5094 (Electronic)
IS  - 1381-6810 (Linking)
VI  - 43
IP  - 6
DP  - 2022 Dec
TI  - Multiplex ligation-dependent probe amplification versus fluorescent in situ 
      hybridization for screening RB1 copy number variations in Egyptian patients with 
      retinoblastoma.
PG  - 789-794
LID - 10.1080/13816810.2022.2116650 [doi]
AB  - 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.
FAU - Eid, Ola M
AU  - Eid OM
AUID- ORCID: 0000-0002-3898-7117
AD  - Human Cytogenetics Department, National Research Centre, Cairo, Egypt.
FAU - El Zomor, Hosam
AU  - El Zomor H
AD  - Pediatric Department, Children's Cancer Hospital, Cairo, Egypt.
AD  - Pediatric Oncology Department, National Cancer Institute, Cairo University, 
      Cairo, Egypt.
FAU - Mohamed, Amal M
AU  - Mohamed AM
AD  - Human Cytogenetics Department, National Research Centre, Cairo, Egypt.
FAU - El-Bassyouni, Hala T
AU  - El-Bassyouni HT
AUID- ORCID: 0000-0001-9825-1219
AD  - Clinical Genetics Department, National Research Centre, Cairo, Egypt.
FAU - Afifi, Hanan H
AU  - Afifi HH
AD  - Clinical Genetics Department, National Research Centre, Cairo, Egypt.
FAU - El-Ayadi, Moatasem
AU  - El-Ayadi M
AD  - Pediatric Department, Children's Cancer Hospital, Cairo, Egypt.
AD  - Pediatric Oncology Department, National Cancer Institute, Cairo University, 
      Cairo, Egypt.
FAU - Sadek, Sherin H
AU  - Sadek SH
AD  - Ophthalmology Department, Children's Cancer Hospital, Egypt.
AD  - Ophthalmology Department, Fayoum University, Faiyum, Egypt.
FAU - Hammad, Saida A
AU  - Hammad SA
AD  - Human Cytogenetics Department, National Research Centre, Cairo, Egypt.
FAU - Salem, Sherine I
AU  - Salem SI
AD  - Clinical Pathology Department, Children's Cancer Hospital, Egypt.
AD  - Clinical Pathology Department, National Cancer Institute, Cairo University, 
      Cairo, Egypt.
FAU - Mahrous, Rana
AU  - Mahrous R
AD  - Human Cytogenetics Department, National Research Centre, Cairo, Egypt.
FAU - Fadel, Islam M
AU  - Fadel IM
AD  - Human Cytogenetics Department, National Research Centre, Cairo, Egypt.
FAU - Refaat, Khaled
AU  - Refaat K
AD  - Human Cytogenetics Department, National Research Centre, Cairo, Egypt.
FAU - Afifi, Mahmoud A
AU  - Afifi MA
AD  - Research Department, Children's Cancer Hospital, Egypt.
FAU - Shelil, Abdallah E
AU  - Shelil AE
AD  - Ophthalmology Department, Children's Cancer Hospital, Egypt.
AD  - Ophthalmology Department, Al-Azhar University, Cairo, Egypt.
FAU - Ziko, Othman A O
AU  - Ziko OAO
AD  - Ophthalmology Department, Ain Shams University, Cairo, Egypt.
FAU - Abdel Azeem, Amira A
AU  - Abdel Azeem AA
AD  - Ophthalmic Genetics Department, Research Institute of Ophthalmology, Cairo, 
      Egypt.
FAU - El-Haddad, Alaa
AU  - El-Haddad A
AD  - Pediatric Department, Children's Cancer Hospital, Cairo, Egypt.
AD  - Pediatric Oncology Department, National Cancer Institute, Cairo University, 
      Cairo, Egypt.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20220913
PL  - England
TA  - Ophthalmic Genet
JT  - Ophthalmic genetics
JID - 9436057
RN  - 0 (RB1 protein, human)
RN  - EC 2.3.2.27 (Ubiquitin-Protein Ligases)
RN  - 0 (Retinoblastoma Binding Proteins)
SB  - IM
MH  - Humans
MH  - *Retinoblastoma/diagnosis/genetics/pathology
MH  - DNA Copy Number Variations
MH  - Multiplex Polymerase Chain Reaction
MH  - In Situ Hybridization, Fluorescence
MH  - Egypt/epidemiology
MH  - *Retinal Neoplasms/diagnosis/genetics/pathology
MH  - Ubiquitin-Protein Ligases/genetics
MH  - Retinoblastoma Binding Proteins/genetics
OTO - NOTNLM
OT  - FISH
OT  - MLPA
OT  - RB1gene
OT  - copy number variations
OT  - retinoblastoma
EDAT- 2022/09/14 06:00
MHDA- 2023/01/27 06:00
CRDT- 2022/09/13 05:22
PHST- 2022/09/14 06:00 [pubmed]
PHST- 2023/01/27 06:00 [medline]
PHST- 2022/09/13 05:22 [entrez]
AID - 10.1080/13816810.2022.2116650 [doi]
PST - ppublish
SO  - Ophthalmic Genet. 2022 Dec;43(6):789-794. doi: 10.1080/13816810.2022.2116650. 
      Epub 2022 Sep 13.