Genomic differences between retinoma and retinoblastoma

Sampieri, Katia; Mencarelli, Maria Antonietta; Epistolato, Maria Carmela; Toti, Paolo; Lazzi, Stefano; Bruttini, Mirella; Francesco, Sonia De; Longo, Ilaria; Meloni, Ilaria; Mari, Francesca; Acquaviva, Antonio; Hadjistilianou, Theodora; Renieri, Alessandra; Ariani, Francesca

doi:10.1080/02841860802342382

Cited by 48 publications

(48 citation statements)

References 30 publications

(23 reference statements)

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“…Specific modulations of various pathways, that is, PI3K/AKT, JAK-STAT, p53, progressively lead to resistance of retinoblastoma cells to death (2)(3)(4)(5). The emerging small anticancer drugs which target BCL2 family proteins offer a way to overcome the death resistance of cancer cells (13)(14)(15)(16)(17)(18)(19)(20)(21).…”

Section: Discussionmentioning

confidence: 99%

“…Loss of both alleles appears however to be insufficient to initiate tumor formation, and further genomic changes may drive to highly proliferative retinoblastoma, exhibiting altered gene copy numbers and modulated expression of oncogenes (MYCN, E2F3, DEK, KIF14, and MDM4) and tumor suppressor genes (CDH11 and NGFR; refs. [2][3][4][5].…”

Section: Introductionmentioning

confidence: 99%

“…2 Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland. 3 Ecole Polytechnique F ed erale de Lausanne, Faculty of Life Sciences, Lausanne, Switzerland.…”

Section: Introductionmentioning

confidence: 99%

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BIRO1, a Cell-Permeable BH3 Peptide, Promotes Mitochondrial Fragmentation and Death of Retinoblastoma Cells

Allaman-Pillet

Oberson

2015

Molecular Cancer Research

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Retinoblastoma is the most common pediatric intraocular neoplasm. While retinoblastoma development requires the inactivation of both alleles of the retinoblastoma tumor suppressor gene (RB1) in the developing retina, additional genomic changes are involved in tumor progression, which progressively lead to resistance of tumor cells to death. Therapeutics acting at very downstream levels of death signaling pathways should therefore be interesting in killing retinoblastoma cells. The BH3-only proteins promote apoptosis by modulating the interaction between the proand antiapoptotic members of the BCL2 protein family, and this effect can be recapitulated by the BH3 domains. This report analyzes the effect of various BH3 peptides, corresponding to different BH3-only proteins, on two retinoblastoma cell lines, Y79 and WERI-Rb, as well as on the photoreceptor cell line 661W. The BH3 peptide BIRO1, derived from the BCL2L11 death domain, was very effective in promoting Y79 and WERI-Rb cell death without affecting the 661W photoreceptor cells. This cell death was efficient even in absence of BAX and was shown to be caspase independent. While ROS production or AIF release was not detected from mitochondria of treated cells, BIRO1 initiated mitochondria fragmentation in a short period of time following treatment.Implications: The BIRO1 peptide is highly effective at killing retinoblastoma cells and has potential as a peptidomimetic. Mol Cancer Res; 13(1); 86-97. Ó2014 AACR.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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BIRO1, a Cell-Permeable BH3 Peptide, Promotes Mitochondrial Fragmentation and Death of Retinoblastoma Cells

Allaman-Pillet

Oberson

2015

Molecular Cancer Research

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“…These lesions display inactivations of both RB1 allelles and represent a step towards retinoblastoma development (Dimaras et al, 2008;Sampieri et al, 2008). At least 6 cases of patients with a retinoma and a second primary tumor have been published in the literature, indicating there is likely an increased risk of second malignancies in this population (Korswagen et al, 2004).…”

Section: Retinomamentioning

confidence: 99%

Second Malignancies in Retinoblastoma: The Real Problem

Williams¹,

Schefler²

2012

Retinoblastoma: An Update on Clinical, Genetic Counseling, Epidemiology and Molecular Tumor Biology

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“…6,7 They showed that retinomas are homozygous null for RB1 and lack expression of retinoblastoma protein product of RB1 (pRB).…”

Section: Geneticsmentioning

confidence: 99%

New Hopes in Retinoblastoma Treatment

Turhan¹

2014

UHOD

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Survival rates of retinoblastoma have increased dramatically during the last decade. The current major treatment modalities for retinoblastoma include enucleation, intravenous chemoreduction, external beam therapy, focal treatments (such as brachytherapy and transpupillary thermotherapy), subconjunctival chemotherapy and selective ophthalmic artery chemotherapy. Although current treatment modalities have improved survival rates as well as eye salvage, new treatment modalities are expected to arise in the near future, since above mentioned non-targeted treatments have extensive side effects. Recent advances in genetic analysis of retinoblastoma 1 (RB1) mutations and pathways leading to retinoblastoma may provide vital information for the development of new targeted therapies which are less toxic. Keywords: Genetics, Retinoblastoma, RB1 mutation, Targeted treatments ÖZET Retinoblastom Tedavisinde Yeni UmutlarSon on yılda retinoblastomda sağ kalım oranları dramatik olarak artmıştır. Enükleasyon, intravenöz kemoredüksiyon, dışsal ışın radyoterapi, fokal tedaviler (brakiterapi ve transpupiller termoterapi gibi), subkonjonktival kemoterapi, selektif oftalmik arter kemoterapi retinoblastomda kullanılan önemli tedavi modaliteleridir. Yeni tedavi seçenekleri göz küresinin kurtarılması ve sağkalım oranlarında iyileşme sağlamasına rağmen, özgül olmayan kemoterapi ajanlarının yaygın yan etkileri nedeniyle gelecekte yeni tedavi modalitelerine ihtiyaç duyulmaktadır. Retinablastom 1RB1 mutasyonlarının gen analizi ve retinoblastom oluşumunu sağlayan yolaklardaki son gelişmeler; daha az toksisitesi olan hedeflenmiş terapilerin gelişiminde önemli bilgiler sağlayacaktır.

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Genomic differences between retinoma and retinoblastoma

Cited by 48 publications

References 30 publications

BIRO1, a Cell-Permeable BH3 Peptide, Promotes Mitochondrial Fragmentation and Death of Retinoblastoma Cells

BIRO1, a Cell-Permeable BH3 Peptide, Promotes Mitochondrial Fragmentation and Death of Retinoblastoma Cells

Second Malignancies in Retinoblastoma: The Real Problem

New Hopes in Retinoblastoma Treatment

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