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

Hoang, Chinh Q.; Duong, Hong‐Quan; Nguyen, Nguyen Thanh; Nguyen, Sy Anh Hao; Nguyen, Cuong; Nguyen, Bo Duy; Phung, Lan Tuyet; Nguyen, D. T.; Pham, Chau Thi Minh; Doan, Trang Le; Tran, Martin

doi:10.3892/mco.2021.2344

Cited by 6 publications

(4 citation statements)

References 56 publications

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“…However, the mutation rates of exons reported from Vietnam and a group in India are distinct. 15 , 16 Notably, the age of diagnosis is late from these two studies (Vietnam, 1–48 months, mean = 19 months; India, 0–66 months, mean = 20 months), and the detection rates of step 1 are lower than step 2. 15 , 16 In contrast, the mean age of diagnosis was 10 to 12 months for the patients in our study and others, and the detection rate was high using the first step ( Table 3 ).…”

Section: Discussionmentioning

confidence: 87%

“… 15 , 16 Notably, the age of diagnosis is late from these two studies (Vietnam, 1–48 months, mean = 19 months; India, 0–66 months, mean = 20 months), and the detection rates of step 1 are lower than step 2. 15 , 16 In contrast, the mean age of diagnosis was 10 to 12 months for the patients in our study and others, and the detection rate was high using the first step ( Table 3 ). 18 , 26 , 27 The later ages of diagnosis in India and Vietnam might relate to delayed presentation and high detection rate of step 2.…”

Section: Discussionmentioning

confidence: 87%

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Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality

Rojanaporn

Chitphuk

Iemwimangsa

et al. 2022

Trans. Vis. Sci. Tech.

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Purpose The study aimed to generate a stepwise method to reduce the workload of full-scale RB1 sequencing for germline mutation screening in retinoblastoma (RB) patients. The implication of germline mutation in tumor focality was also determined in this study. Methods A stepwise method was created on the basis of “hotspot” exons analyzed using data on germline RB1 mutation in the RB1 –Leiden Open Variation Database and then tested for mutation screening in the blood DNA of 42 patients with RB. The method was compared with the clinical next-generation sequencing (NGS) panel in terms of sequencing outcomes. The germline RB1 mutation was examined in association with multifocality in RB. Results Germline RB1 mutation was identified in 61% of all bilateral cases in the first step of the 3 stepwise method and in 78% and 89% for the two and three steps combined, respectively. NGS detected a mosaic variant of RB1 that was not detected by the first two steps and increased the sensitivity from 78% to 83%. Analysis of the relationship between mutation status and tumor focality indicated that multifocality in RB was dependent on germline RB1 mutation, confirming a higher tendency to have a germline RB1 mutation in patients with multifocal RB. Conclusions A 3 stepwise method reduces the workload needed for sequencing of the RB1 for bilateral cases. NGS outweighs conventional sequencing in terms of the identification of germline mosaic variants. Multifocal tumors in RB may be used to presume germline mutation. Translational Relevance The presence of “hotspot” exons of germline RB1 mutation in bilateral cases facilitates a mutation screening. However, when genetic testing is not available, multifocality in RB regardless of tumor laterality is predictive of germline RB1 mutation.

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Section: Discussionmentioning

confidence: 87%

Section: Discussionmentioning

confidence: 87%

Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality

Rojanaporn

Chitphuk

Iemwimangsa

et al. 2022

Trans. Vis. Sci. Tech.

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“…Recently, significant progress has been made in the molecular diagnosis of Rb in Vietnam (Hoang et al, 2021;Nguyen et al, 2018). Herein, we report the prenatal genetic diagnosis of two pregnant women with a positive family history of Rb.…”

Section: Introductionmentioning

confidence: 99%

Prenatal genetic diagnosis of retinoblastoma in two Vietnamese families

Chau

Anh

et al. 2022

Vietnam J. Biotechnol.

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Retinoblastoma (Rb) is a rare cancer that develops from the layer of cells in the retina. A germline mutation in the RB1 gene is a high risk factor for Rb. We performed prenatal genetic diagnosis on two pregnant women who had had a child with hereditary Rb and continued checking their newborns' conditions after giving birth. Ultrasound-guided amniocentesis, amniotic cell culture, and Sanger sequencing for the specific RB1 region were used. The analysis results demonstrated that one of the amniotic cell samples was found to carry a genetic mutation that causes the disease, inherited from the father. Neonatal screening confirmed that the corresponding newborn of the amniotic cell sample with the causative gene mutation developed binocular retinoblastoma. Prenatal genetic testing on pregnant women in families with a risk of having a child with retinoblastoma should be performed to prepare a clinical diagnosis and treatment plan for the neonate.

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“…В настоящее время секвенирование нового поколения (NGS) становится рутинным методом ДНК-диагностики РБ [6]. Данный метод позволяет выявить герминальную мутацию в 80-84 % наследственных форм РБ [7].…”

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Features of molecular genetic diagnosis of retinoblastoma

Zelenova

Козлова

Yugay

et al. 2023

Ross. ž. det. gematol. onkol.

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Retinoblastoma (RB) is one of the most common malignant neoplasms of the visual organ in children, with an established genetic factor in the development of the disease. The detection of mutations in the RB1 gene has been successfully carried out for many years, however, the development of technologies for DNA diagnostics of RB allows us to consider this disease not only as an independent tumor, but also as one of the manifestations of more complicated genetic syndromes involving a complex of genes. The correct genetic diagnosis is important to understand the prognosis of the health of a patient with RB and recommendations for his further observation, as well as a correct assessment of the risks of having children with the same pathology in the family.Currently available methods of DNA diagnostics of the RB1 gene are new generation sequencing (NGS) and multiplex amplification of ligated probes (MLPA). However, in some cases, additional diagnostics may be required – a karyotype study or chromosomal micromatrix analysis (CMA). In this article we present a molecular genetic study of children with uni- and bilateral RB with an extended deletion at the RB1 gene locus. The aim of the study was determining of possible indications for the appointment of extended DNA diagnostics.

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

Cited by 6 publications

References 56 publications

Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality

Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality

Prenatal genetic diagnosis of retinoblastoma in two Vietnamese families

Features of molecular genetic diagnosis of retinoblastoma

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