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Giant Subependymoma Developed in a Patient with Aniridia: Analyses of PAX6 and Tumor‐relevant Genes

We observed an unusually large subependymoma in a female patient with congenital aniridia. To analyze the genetic mechanisms of tumorigenesis, we first examined the paired box 6 (PAX6) gene using both tumor tissue and peripheral lymphocytes. Tumor suppressor activity has been proposed for PAX6 in gl...

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Autores principales: Maekawa, Motoko, Fujisawa, Hironori, Iwayama, Yoshimi, Tamase, Akira, Toyota, Tomoko, Osumi, Noriko, Yoshikawa, Takeo
Formato: Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2991767/
https://www.ncbi.nlm.nih.gov/pubmed/20500513
http://dx.doi.org/10.1111/j.1750-3639.2010.00406.x
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author Maekawa, Motoko
Fujisawa, Hironori
Iwayama, Yoshimi
Tamase, Akira
Toyota, Tomoko
Osumi, Noriko
Yoshikawa, Takeo
author_facet Maekawa, Motoko
Fujisawa, Hironori
Iwayama, Yoshimi
Tamase, Akira
Toyota, Tomoko
Osumi, Noriko
Yoshikawa, Takeo
author_sort Maekawa, Motoko
collection PubMed
description We observed an unusually large subependymoma in a female patient with congenital aniridia. To analyze the genetic mechanisms of tumorigenesis, we first examined the paired box 6 (PAX6) gene using both tumor tissue and peripheral lymphocytes. Tumor suppressor activity has been proposed for PAX6 in gliomas, in addition to its well‐known role in the eye development. Using genomic quantitative PCR and loss of heterozygosity analysis, we identified hemizygous deletions in the 5′‐region of PAX6. In lymphocytes, the deletion within PAX6 spanned from between exons 6 and 7 to the 5′‐upstream region of the gene, but did not reach the upstream gene, RNC1, which is reported to be associated with tumors. The subependymoma had an additional de novo deletion spanning from the intron 4 to intron 6 of PAX6, although we could not completely determine whether these two deletions are on the same chromosome or not. We also examined other potentially relevant tumor suppressor genes: PTEN, TP53 and SOX2. However, we detected no exonic mutations or deletions in these genes. Collectively, we speculate that the defect in PAX6 may have contributed to the extremely large size of the subependymoma, due to a loss of tumor suppressor activity in glial cell lineage.
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spelling pubmed-29917672010-12-06 Giant Subependymoma Developed in a Patient with Aniridia: Analyses of PAX6 and Tumor‐relevant Genes Maekawa, Motoko Fujisawa, Hironori Iwayama, Yoshimi Tamase, Akira Toyota, Tomoko Osumi, Noriko Yoshikawa, Takeo Brain Pathol Research Articles We observed an unusually large subependymoma in a female patient with congenital aniridia. To analyze the genetic mechanisms of tumorigenesis, we first examined the paired box 6 (PAX6) gene using both tumor tissue and peripheral lymphocytes. Tumor suppressor activity has been proposed for PAX6 in gliomas, in addition to its well‐known role in the eye development. Using genomic quantitative PCR and loss of heterozygosity analysis, we identified hemizygous deletions in the 5′‐region of PAX6. In lymphocytes, the deletion within PAX6 spanned from between exons 6 and 7 to the 5′‐upstream region of the gene, but did not reach the upstream gene, RNC1, which is reported to be associated with tumors. The subependymoma had an additional de novo deletion spanning from the intron 4 to intron 6 of PAX6, although we could not completely determine whether these two deletions are on the same chromosome or not. We also examined other potentially relevant tumor suppressor genes: PTEN, TP53 and SOX2. However, we detected no exonic mutations or deletions in these genes. Collectively, we speculate that the defect in PAX6 may have contributed to the extremely large size of the subependymoma, due to a loss of tumor suppressor activity in glial cell lineage. Blackwell Publishing Ltd 2010-05-05 /pmc/articles/PMC2991767/ /pubmed/20500513 http://dx.doi.org/10.1111/j.1750-3639.2010.00406.x Text en © 2010 The Authors; Brain Pathology © 2010 International Society of Neuropathology Open access.
spellingShingle Research Articles
Maekawa, Motoko
Fujisawa, Hironori
Iwayama, Yoshimi
Tamase, Akira
Toyota, Tomoko
Osumi, Noriko
Yoshikawa, Takeo
Giant Subependymoma Developed in a Patient with Aniridia: Analyses of PAX6 and Tumor‐relevant Genes
title Giant Subependymoma Developed in a Patient with Aniridia: Analyses of PAX6 and Tumor‐relevant Genes
title_full Giant Subependymoma Developed in a Patient with Aniridia: Analyses of PAX6 and Tumor‐relevant Genes
title_fullStr Giant Subependymoma Developed in a Patient with Aniridia: Analyses of PAX6 and Tumor‐relevant Genes
title_full_unstemmed Giant Subependymoma Developed in a Patient with Aniridia: Analyses of PAX6 and Tumor‐relevant Genes
title_short Giant Subependymoma Developed in a Patient with Aniridia: Analyses of PAX6 and Tumor‐relevant Genes
title_sort giant subependymoma developed in a patient with aniridia: analyses of pax6 and tumor‐relevant genes
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2991767/
https://www.ncbi.nlm.nih.gov/pubmed/20500513
http://dx.doi.org/10.1111/j.1750-3639.2010.00406.x
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