Role of genetic testing in retinoblastoma management at a tertiary referral centre

Pradhan, Monika; Ng, Yvonne S P; Strickland, Adrienne; George, Peter M.; Raizis, Anthony; Warrington, Jenny; Vincent, Andrea L

doi:10.1111/j.1442-9071.2010.02239.x

Cited by 15 publications

(8 citation statements)

References 16 publications

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“…Children with heritable RB, in addition to experiencing bilateral vision impairment in early childhood, are at increased risk for developing primitive neuroectodermal tumors and second tumors later in life. The genetically predisposed individuals can be screened ophthalmologically and the tumors treated as they arise.Unequivocal identification of mutant gene carriers will also eliminate the need for costly and time-consuming procedures for family members who are not carriers (19,20). On the other hand, the large size of the RB1 gene (180 kb), its high degree of mutational heterogeneity, the high proportion of mutations arise from small (< 10 bp) sequence changes and the presence of mosaicism and the possibility of mutation within non-coding regions make it very difficult to achieve efficient detection of RB1 mutations for all patients.…”

Section: Discussionmentioning

confidence: 99%

Identificación de tres nuevas mutaciones en el gen RB1 en pacientes con retinoblastoma esporádico en Colombia

Serrano

Yunis

2012

biomedica

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Introduction. Retinoblastoma is a childhood cancer of the retina originated by altered or null retinoblastoma protein (pRb) expression. Genetic alterations in both RB1 alleles in the retinal cells are required for the development of retinoblastoma. In the sporadic form, non-hereditary RB1 gene mutations take place in a single retinoblast cell, and are therefore only present in tumor DNA (somatic mutations). Sporadic retinoblastoma is primarily unilateral, lacks family history and has no risk of transmission to descendants. Genetic tests for detection of RB1 mutation has improved the identification of carriers and facilitated accurate genetic counseling. Objective. To identify mutations in the RB1 gene in Colombian patients with sporadic retinoblastoma by PCR-SSCP followed by sequence. Materials and methods. Four patients with sporadic retinoblastoma were analyzed by PCR-SSCP, followed by DNA sequencing to identify variations in the RB1 gene. Results. We identified five variations in RB1 gene: three new mutations (one germline and two somatic mutations), one new polymorphism and one already reported somatic mutation. Four mutations were found in three patients with unilateral retinoblastoma and one mutation was found in a patient with bilateral retinoblastoma. One of these was a germline mutation in a sporadic unilateral retinoblastoma that was not present in the parents or three siblings analyzed. Conclusions. Our results emphasize the importance of identifying mutations for genetic counseling and clinical management of sporadic retinoblastoma patients. Description of a new RB1 gene variant is interesting since there have been a small number of polymorphisms reported for this gene.

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Section: Discussionmentioning

confidence: 99%

Identificación de tres nuevas mutaciones en el gen RB1 en pacientes con retinoblastoma esporádico en Colombia

Serrano

Yunis

2012

biomedica

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“…Screening for any mutation of the RB1 gene from both tumor and peripheral blood can identify the germline mutation, which may help in proper management planning for both the affected child and sibling [23]. Genetic counseling supports families to understand medical diagnosis, disease prognosis, and risk of transmission of disease to offspring.…”

Section: Leukemic Infiltratementioning

confidence: 99%

A Review of Childhood Ocular, Orbital, and Surface Tumors With Updated Clinical Management

Roy¹,

Huque²

2022

BIJGIM

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Childhood tumor is differs from adult tumor but has a wide range varieties in types and presentation due to its origin from different embryogenic layers. As Pediatric patients mostly depend on their parents or caregivers for seeking medical attention, many ocular tumor present with unnecessary delay. Most childhood ocular tumors are benign, but there are also life threatening tumors. In this study, a variety of intraocular, orbital and surface tumors are reviewed with their key sign of diagnosis and current treatment modalities. Though most of these tumor present at tertiary eye hospitals, the overall knowledge about these tumors can help ophthalmologists in diagnosis and proper referral.

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“…Studies have shown that approximately 15% of unilateral cases are due to germline mutations, and they can subsequently develop tumors in the unaffected eye 59 . Therefore, early genotyping can provide crucial insights into what type of retinoblastoma the patient has, enabling optimal treatment plans and genetic counseling 60 . Recently, there has been a potentially exciting development of cell-free DNA analysis of aqueous humor samples that can detect mutations in tumor cells with a high accuracy rate.…”

Section: Retinoblastomamentioning

confidence: 99%

Recent advancements in the management of retinoblastoma and uveal melanoma

Schefler¹,

Kim

2021

Fac Rev

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Retinoblastoma in children and uveal melanoma in adults can pose a serious threat to both vision and life. For many decades, enucleation was often the only option to treat these intraocular malignancies. For retinoblastoma, intra-arterial chemotherapy is often utilized as the primary treatment at advanced academic centers and has dramatically improved local tumor control and eye salvage rates. For uveal melanoma, both plaque brachytherapy and proton beam irradiation have served as widely utilized therapies with a local failure rate of approximately 1–10%, depending on the series. Major recent advancements have allowed for a better understanding of the genomics of uveal melanoma and the impact of certain mutations on metastatic susceptibility. Gene expression profile stratifies uveal melanomas into two classes: low-risk (class 1) and high-risk (class 2). A loss-of-function mutation of BAP1 is associated with a class 2 gene expression profile and therefore confers worse prognosis due to elevated risk of metastasis. On the other hand, gain-of-function mutations of EIF1AX and SF3B1 correspond to a gene expression profile of class 1A and class 1B and confer a better prognosis. Preferentially expressed antigen in melanoma (PRAME) is an antigen that increases metastatic susceptibility when expressed in uveal melanoma cells. In addition to plaque brachytherapy and proton beam irradiation, both of which have demonstrated superb clinical outcomes, scientists are actively investigating newer therapeutic modalities as either primary therapy or adjuvant treatment, including a novel nanoparticle therapy and immunotherapy.

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Role of genetic testing in retinoblastoma management at a tertiary referral centre

Cited by 15 publications

References 16 publications

Identificación de tres nuevas mutaciones en el gen RB1 en pacientes con retinoblastoma esporádico en Colombia

Identificación de tres nuevas mutaciones en el gen RB1 en pacientes con retinoblastoma esporádico en Colombia

A Review of Childhood Ocular, Orbital, and Surface Tumors With Updated Clinical Management

Recent advancements in the management of retinoblastoma and uveal melanoma

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