Trilateral retinoblastoma. Correlation between the genetic anomalies of the RB1 gene and the presence of pineal gland cysts

Río, N. Ruiz del; Gómez, José Manuel Abelairas; Rosa, F.J. Alonso García de la; Calvo, J.M. Peralta; Martin, Alissa

doi:10.1016/j.oftale.2014.02.006

Cited by 4 publications

(4 citation statements)

References 20 publications

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“…5E-G) until the age of 4-5 years (Sirin et al, 2016). Pineal cysts in retinoblastoma patients have a reported incidence ranging between 5 and 37%, with some authors indicating an association with hereditary disease (Beck Popovic et al, 2006;Ruiz Del Rio et al, 2014), whereas others do not (Ramasubramanian et al, 2013). They are comparable in size with cysts in age-matched healthy controls (Pham et al, 2015), and do not progress to a tumor (Barboriak et al, 2001;Beck Popovic et al, 2006;Karatza et al, 2006;Ramasubramanian et al, 2013).…”

Section: Differential Diagnosis: Pineal Cystsmentioning

confidence: 99%

Conservative management of retinoblastoma: Challenging orthodoxy without compromising the state of metastatic grace. “Alive, with good vision and no comorbidity”

Munier

Beck‐Popovic

Chantada

et al. 2019

Progress in Retinal and Eye Research

160

157

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Retinoblastoma is lethal by metastasis if left untreated, so the primary goal of therapy is to preserve life, with ocular survival, visual preservation and quality of life as secondary aims. Historically, enucleation was the first successful therapeutic approach to decrease mortality, followed over 100 years ago by the first eye salvage attempts with radiotherapy. This led to the empiric delineation of a window for conservative management subject to a "state of metastatic grace" never to be violated. Over the last two decades, conservative management of retinoblastoma witnessed an impressive acceleration of improvements, culminating in two major paradigm shifts in therapeutic strategy. Firstly, the introduction of systemic chemotherapy and focal treatments in the late 1990s enabled radiotherapy to be progressively abandoned. Around 10 years later, the advent of chemotherapy in situ, with the capitalization of new routes of targeted drug delivery, namely intra-arterial, intravitreal and now intracameral injections, allowed significant increase in eye preservation rate, definitive eradication of radiotherapy and reduction of systemic chemotherapy. Here we intend to review the relevant knowledge susceptible to improve the conservative management of retinoblastoma in compliance with the "state of metastatic grace", with particular attention to (i) reviewing how new imaging modalities impact the frontiers of conservative management, (ii) dissecting retinoblastoma genesis, growth patterns, and intraocular routes of tumor propagation, (iii) assessing major therapeutic changes and trends, (iv) proposing a classification of relapsing retinoblastoma, (v) examining treatable/preventable disease-related or treatment-induced complications, and (vi) appraising new therapeutic targets and concepts, as well as liquid biopsy potentiality.

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Section: Differential Diagnosis: Pineal Cystsmentioning

confidence: 99%

Conservative management of retinoblastoma: Challenging orthodoxy without compromising the state of metastatic grace. “Alive, with good vision and no comorbidity”

Munier

Beck‐Popovic

Chantada

et al. 2019

Progress in Retinal and Eye Research

160

157

View full text Add to dashboard Cite

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“…Retinoblastoma 1 gene has been found mutated or deregulated in many human cancers [27][28][29][30][31][32][33][34][35] and one subtype of brain tumor, glioma [36]. Present study examined the two exonic SNPs of RB1 gene (rs137853294 and rs121913300) in brain tumor patients.…”

Section: Discussionmentioning

confidence: 95%

Genetic and expression variations of cell cycle pathway genes in brain tumor patients

et al. 2020

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The present study was designed to determine the association between the genetic polymorphisms/expression variations of RB1 and CCND1 genes and brain tumor risk. For this purpose, 250 blood samples of brain tumor patients along with 250 controls (cohort I) and 96 brain tumor tissues (cohort II) with adjacent control section were collected. Mutation analysis of RB1 (rs137853294, rs121913300) and CCND1 (rs614367, rs498136) genes was performed using ARMS-PCR followed by sequencing, and expression analysis was performed using real-time PCR and immunohistochemistry. The results showed homozygous mutant genotype of RB1 gene polymorphism, rs121913300 (P=0.003) and CCND1 gene polymorphism rs614367 (P=0.01) were associated significantly with brain tumor risk. Moreover, significant down-regulation of RB1 (P=0.005) and up-regulation of CCND1 (P=0.0001) gene was observed in brain tumor sections vs controls. Spearman correlation showed significant negative correlation between RB1 vs proliferation marker, Ki-67 (r = −0.291*, P<0.05) in brain tumors. Expression levels of selected genes were also assessed at protein level using immunohistochemical analysis (IHC) and signification down-regulation of RB1 (P=0.0001) and up-regulation of CCND1 (P=0.0001) was observed in brain tumor compared with control sections. In conclusion, it is suggested that polymorphisms/expression variations of RB1 and CCND1 genes may be associated with increased risk of brain tumor.

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“…The variable clinical phenotype and response to treatment despite the same mutation, could be due to epigenetic molecular events in the tumor [64]. In pineal cyst, a pre-malignant form of pinealoblastoma, BLRB is more common than ULRB where germline mutations are invariably identified [65] and we had a patient with pinealoma, trilateral RB who had the pW78X mutation.…”

Section: Discussionmentioning

confidence: 99%

Retinoblastoma genetics screening and clinical management

et al. 2021

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Background India accounts for 20% of the global retinoblastoma (RB) burden. However, the existing data on RB1 gene germline mutations and its influence on clinical decisions is minimally explored. Methods Fifty children with RB underwent complete clinical examination and appropriate multidisciplinary management. Screening of germline RB1 gene mutations was performed through next-generation sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA) analysis. The mutation and non-mutation groups were compared for clinical parameters especially severity, progression and recurrence. Results Twenty-nine patients had bilateral RB (BLRB) and 21 had unilateral RB (ULRB). The genetic analysis revealed 20 RB1 variations in 29 probands, inclusive of 3 novel mutations, known 16 mutations and heterozygous whole gene deletions. The mutation detection rate (MDR) was 86.2% in BLRB and 19% in ULRB. Associations of disease recurrence (p = 0.021), progression (p = 0.000) and higher percentage of optic nerve invasion, subretinal seeds and high-risk pathological factors were observed in the mutation group. Clinical management was influenced by the presence of germline mutations, particularly while deciding on enucleation, frequency of periodic follow up and radiotherapy. Conclusions We identified novel RB1 mutations, and our mutation detection rate was on par with the previous global studies. In our study, genetic results influenced clinical management and we suggest that it should be an essential and integral component of RB-care in India and elsewhere.

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Trilateral retinoblastoma. Correlation between the genetic anomalies of the RB1 gene and the presence of pineal gland cysts

Cited by 4 publications

References 20 publications

Conservative management of retinoblastoma: Challenging orthodoxy without compromising the state of metastatic grace. “Alive, with good vision and no comorbidity”

Conservative management of retinoblastoma: Challenging orthodoxy without compromising the state of metastatic grace. “Alive, with good vision and no comorbidity”

Genetic and expression variations of cell cycle pathway genes in brain tumor patients

Retinoblastoma genetics screening and clinical management

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