Recent advances in retinoblastoma genetic research

Nichols, Kim E.; Walther, Susan E.; Shields, Carol L.; Ganguly, Arupa

doi:10.1097/icu.0b013e32832f7f25

Cited by 32 publications

(23 citation statements)

References 43 publications

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“…While there were 18/51 (35%) cases who showed EOE and positivity of PCR for Rb-1 gene mutation and a positive association was seen with EOE and gene mutation (p = 0.005). Our results are consistent with Eagle et al, their harbor mutations in both copies of the RB1 gene and associated with uveal invasion and retrolaminar optic nerve invasion [5,16,17]. Laurie et al proved this association at molecular basis, and their "detailed analysis of these cells as they were propagated in culture from the primary tumor shows that changes in cadherin-mediated cell adhesion are associated with retinoblastoma invasion of the optic nerve prior to metastasis.…”

Section: Discussionsupporting

confidence: 81%

Prognostic significance of retinoblastoma gene mutation in retinoblastoma eye with respect to pathological risk factors

Khan¹,

Mehboob²,

Bukhari³

2013

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Retinoblastoma (Rb) was reported firstly by Benedict is the commonest pediatric intraocular malignant tumor in children younger than 5 years of age. The study was conducted to detect the RB-1 gene for prognostic evaluation in retinoblastoma and to see the frequency of RB-1 gene in our population. This was a retrospective descriptive analytical study. Five years biopsies (January, 2006 to December 2011) of the retinoblastoma, from the Pathology department, was retrieved to see optic nerve involvement in all the retrieved specimens. The study was taken to see the mutation of RB1 gene by immunohistochemistry and PCR. The study plan was approved from Institutional Review Board (IRB) of the University. All the cases showed positivity of abnormal Rb-1 gene proteins expression by Immunohistochemistry staining. On PCR, 51/52 (98%) tumors expressed gene mutation as compared to 100% expression shown by IHC. Out of these, 28/51 (55%) cases showed ONI and ODI with positivity for mutated RB gene. A positive association was seen among RB gene mutation with ONI and ODI (p = 0.05). There were 33/51 (65%) cases who did not show any EOE but showed PCR positivity for RB gene mutation. While there were 18/51 (35%) cases who showed EOE and positivity of PCR for Rb-1 gene mutation and a positive association was seen with EOE and gene mutation (p = 0.005). The most common sequence of mutation was on 13 with 33 cases for double mutation, 12 cases for single and 6 patients for triple pattern of mutation. Most of the double and triple sequences of mutations were associated with ONI, ODI and EOE. We concluded that mutation of RB-1 gene is responsible in causation of the tumors with a positive association with tumor size and tumor extension (optic nerve, and extraocular extension), and mutation affects patients with all ages, both gender and unilateral and bilateral tumors.

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Section: Discussionsupporting

confidence: 81%

Prognostic significance of retinoblastoma gene mutation in retinoblastoma eye with respect to pathological risk factors

Khan¹,

Mehboob²,

Bukhari³

2013

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“…Gains at chromosomal loci 1q32.1, 6p22, and 2p24, encompassing the genes MDM4, E2F3 and DEK, and MYCN respectively, and losses at 16q22 have been described. 5 Recently, Priya and coauthors 6 demonstrated a high frequency of allelic loss in retinoblastoma tumors at a second locus for retinoblastoma: RBL2, which encodes the p130 protein, on 16q12.2. The role of RBL2 is further supported by the findings of Bellan and colleagues 7 pertaining to missing expressions of RBL2/p130 associated with reduced apoptosis and lesser differentiation in human cases of retinoblastoma.…”

Section: Discussionmentioning

confidence: 99%

Unilateral retinoblastoma in an eye with Peters anomaly

Lim

Quah

2010

Journal of American Association for Pediatric Ophthalmology and

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“…10 Deletions of 13q14 have extensively been studied in the context of retinoblastoma. 11 On the contrary, proximal deletions affecting the 13q12 region have not been frequently reported. An interstitial 13q12.1q14.1 deletion was reported in a patient with developmental delay, dysmorphic features and hypotonia.…”

Section: Discussionmentioning

confidence: 99%

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

et al. 2010

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Mental retardation is a frequent condition that is clinically and genetically highly heterogeneous. One of the strategies used to identify new causative genes is to take advantage of balanced chromosomal rearrangements in affected patients. We characterized a de novo t(10;13) balanced translocation in a patient with severe mental retardation and major hypotonia. We found that the balanced translocation is molecularly balanced. The translocation breakpoint disrupts the coding sequence of a single gene, called ATP8A2. The ATP8A2 gene is not ubiquitously expressed, but it is highly expressed in the brain. In situ hybridization performed in mouse embryos at different stages of development with the mouse homologue confirms this observation. A total of 38 patients with a similar phenotype were screened for mutations in the ATP8A2 gene but no mutations were found. The balanced translocation identified in this patient disrupts a single candidate gene highly expressed in the brain. Although this chromosomal rearrangement could be the cause of the severe phenotype of the patient, we were not able to identify additional cases. Extensive screening in the mentally retarded population will be needed to determine if ATP8A2 haploinsufficiency or dysfunction causes a neurological phenotype in humans.

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Recent advances in retinoblastoma genetic research

Cited by 32 publications

References 43 publications

Prognostic significance of retinoblastoma gene mutation in retinoblastoma eye with respect to pathological risk factors

Prognostic significance of retinoblastoma gene mutation in retinoblastoma eye with respect to pathological risk factors

Unilateral retinoblastoma in an eye with Peters anomaly

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

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