Impact of RB1 gene mutation type in retinoblastoma patients on clinical presentation and management outcome

Mehyar, Mustafa; Mosallam, Mohammad; Tbakhi, Abdelghani; Saab, Ala; Sultan, Iyad; Deebajah, Rasha; Jaradat, Imad; AlJabari, Reem; Mohammad, Mona; Al-Nawaiseh, Ibrahim; Al‐Hussaini, Maysa; Yousef, Yacoub A.

doi:10.1016/j.hemonc.2020.02.006

Cited by 20 publications

(11 citation statements)

References 23 publications

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“…The present study also supported the potential use of age at diagnosis as a risk factor for inherited RB. Recently, NGS is considered a highly sensitive and efficient approach for the detection of RB1 mutations due to increasing use of NGS in gene mutation analysis of RB; especially screening and identification of RB1 mutations with NGS substantially benefits the prepotency, early diagnosis and treatment of retinoblastoma (20)(21)(22)(23)(24)(25). Furthermore, the sensitivity rate of NGS in the present study was similar with that reported to previous studies.…”

Section: Discussionsupporting

confidence: 88%

“…The combination of the aforementioned methods is essential for detecting all possible RB1 mutations (17)(18)(19). Recently, Next Generation Sequencing (NGS) has been implemented as rapid and effective strategy for identification of RB1 mutations since all variations can be detected in a single test, thus providing a number of advantages, including high sensitivity and cost-effectiveness (20)(21)(22)(23)(24)(25). In Vietnam, Sanger sequencing coupled with MLPA (SS-MLPA) could detect germline RB1 mutations in 82-84% of bilateral cases (26,27).…”

Section: Clinical Evaluation Of Rb1 Genetic Testing Reveals Novel Mutations In Vietnamese Patients With Retinoblastomamentioning

confidence: 99%

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Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma

Hoang

Duong

Nguyen³

et al. 2021

Mol Clin Oncol

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MLPA). Constitutional RB1 variants were identified in 100% (25/25) of the bilateral cases, while several common previously reported RB1 mutations were also recorded. In addition, in Vietnamese patients with RB, nine novel RB1 mutations were identified. Children aged between 0-36 months were more likely to be RB1 carriers compared with those aged >36 months. The current findings indicated that the NGS method implemented in the Vinmec Hi-Tech Center was highly accurate, and age at diagnosis may be used to assess the risk of hereditary RB. Furthermore, the newly identified RB1 mutations may provide additional data to improve the current understanding of the mechanisms underlying RB1 inactivation and the development of rapid assays for detecting RB1 mutations. Overall, the present study suggested that NGS may be applied for detecting germline RB1 mutations in routine clinical practice.

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Section: Discussionsupporting

confidence: 88%

Section: Clinical Evaluation Of Rb1 Genetic Testing Reveals Novel Mutations In Vietnamese Patients With Retinoblastomamentioning

confidence: 99%

Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma

Hoang

Duong

Nguyen³

et al. 2021

Mol Clin Oncol

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“…It is important to determine whether the detected mutation is a true germline mutation versus a mosaic mutation as the parents and siblings do not require screening in the setting of mosaicism (8); further, the percentage of mosaicism can also help to stratify the risk of second tumors to the child. Somatic RB1 mutations are not routinely identified in RB although there is some evidence that particular mutations, notably deletions, acceptor splice sites and frameshift mutations, may present with more aggressive forms of the disease (9). Beyond biallelic RB1 inactivation, somatic copy number alterations (SCNAs) are thought to contribute to RB tumor growth and progression (10).…”

Section: Introductionmentioning

confidence: 99%

Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes

Shen

Polski

et al. 2020

Ophthalmic Genetics

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“…Accumulating evidence has reported the function of RB1 in RB (24,30,31). The main research goal of the present study was to investigate the role of the miR-338-3p/NOVA1 axis in RB.…”

Section: Discussionmentioning

confidence: 94%

Roles of the microRNA‑338‑3p/NOVA1 axis in retinoblastoma

Sun

Wang

et al. 2021

Mol Med Rep

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Retinoblastoma (RB) is an intraocular malignancy that mainly affects young children. Previous reports have demonstrated that mutations or the inactivation of the RB1 gene were the main cause of RB; however, disruption of the intracellular signaling pathways following deficiency of RB1 requires further investigation. Based on the Gene Expression Omnibus data and bioinformatics prediction, the present study aimed to investigate the microRNA (miR)-338-3p/neuro-oncological ventral antigen 1 (NOVA1) axis in RB. Subsequently, overexpression and knockdown of miR-338-3p and NOVA1, respectively, were performed to study the role of miR-338-3p/NOVA1 in the progression of the RB cells. The results demonstrated that overexpression of miR-338-3p significantly inhibited cell proliferation, migration and invasion, and promoted apoptosis of the RB cells. Moreover, knockdown of NOVA1 showed similar results. A dual-luciferase reporter assay and rescue experiments further confirmed the direct binding between miR-338-3p and NOVA1. Taken together, the results indicated that miR-338-3p acted as tumor suppressor by targeting the oncogene of NOVA1 in RB, which may serve as potential therapeutic targets in RB.

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Impact of RB1 gene mutation type in retinoblastoma patients on clinical presentation and management outcome

Cited by 20 publications

References 23 publications

Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma

Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma

Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes

Roles of the microRNA‑338‑3p/NOVA1 axis in retinoblastoma

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