Abstract
Loss of retinoblastoma (RB) function in the cone cells during retina development is necessary but not sufficient for retinoblastoma development. It has been reported that in the absence of RB activity, a retinoma is generated, and the onset of retina cancer occurs until the p53 pathway is altered. Unlike other types of cancer, in retinoblastoma the p53 tumour suppressor is mostly wild type, although its two primary regulators, MDMX and MDM2, are commonly dysregulated. A mutated RB form is inherited in around 35% of the cases, but normally two, somatic mutations are needed to alter the RB function. Here we investigated the mRNA levels of RB, p53, MDMX and MDM2 in peripheral blood samples of retinoblastoma patients to monitor the pathway status of p53 in somatic cells. We sought to investigate the involvement of these genes in the development of retina cancer, with the aim of identifying biomarkers for early diagnosis of this disease.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Biomarkers, Tumor / blood
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Biomarkers, Tumor / genetics
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Biomarkers, Tumor / metabolism
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Cell Cycle Proteins / genetics
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Cell Cycle Proteins / metabolism
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Child
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Child, Preschool
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Female
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Genes, Retinoblastoma / genetics
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Humans
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Infant
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Infant, Newborn
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Male
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Proto-Oncogene Proteins / genetics
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Proto-Oncogene Proteins / metabolism
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Proto-Oncogene Proteins c-mdm2 / genetics
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Proto-Oncogene Proteins c-mdm2 / metabolism
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Retina / pathology
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Retinal Cone Photoreceptor Cells / metabolism
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Retinal Neoplasms / pathology
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Retinoblastoma / blood
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Retinoblastoma / genetics
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Retinoblastoma / metabolism*
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Retinoblastoma Protein / genetics
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Retinoblastoma Protein / metabolism
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Tumor Suppressor Protein p53 / blood
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Tumor Suppressor Protein p53 / genetics
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Tumor Suppressor Protein p53 / metabolism*
Substances
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Biomarkers, Tumor
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Cell Cycle Proteins
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MDM4 protein, human
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Proto-Oncogene Proteins
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Retinoblastoma Protein
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TP53 protein, human
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Tumor Suppressor Protein p53
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MDM2 protein, human
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Proto-Oncogene Proteins c-mdm2
Grants and funding
This work was supported by Conacyt CB-256637. This work, including the efforts of Vanesa Olivares-Illana, was funded by L´oreal-UNESCO-AMC. JH-M Cátedras CONACyT program. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.