Homozygous deletion of TNFRSF4, TP73, PPAP2B and DPYD at 1p and PDCD5 at 19q identified by multiplex ligation-dependent probe amplification MLPA analysis in pediatric anaplastic glioma with questionable oligodendroglial componentReportar como inadecuado




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Molecular Cytogenetics

, 7:1

First Online: 06 January 2014Received: 03 October 2013Accepted: 11 December 2013

Abstract

BackgroundPediatric oligodendrogliomas are rare and appear to show a different molecular profile from adult tumors. Some gliomas display allelic losses at 1p-19q in pediatric patients, although less frequently than in adult patients, but this is rare in tumors with an oligodendroglial component. The molecular basis of this genomic abnormality is unknown in pediatric gliomas, but it represents a relatively common finding in pediatric oligodendroglioma-like neoplasms with leptomeningeal dissemination.

ResultsMultiplex ligation-dependent probe amplification MLPA analysis using SALSA P088-B1 for the analysis of the 1p-19q allelic constitution in a pediatric anaplastic oligodendro-glioma showed homozygous co-deletion for markers: TNFRSF4 located at 1p36.33, TP73 1p36.32, PPAP2B 1pter-p22.1, DPYD 1p21.3, and PDCD5 19q13.12, and hemizygous deletion of BAX 19q13.3-q13.4. No sequence changes for R132 and R172 of the IDH1-2 genes were identified.

ConclusionsThe molecular findings in this pediatric anaplastic glioma do not allow for a clearly definitive pathological diagnosis. However, the findings provide data on a number of 1p-19q genomic regions that, because of homozygotic deletion, might be the location of genes that are important for the development and clinical evolution of some malignant gliomas in children.

KeywordsPediatric anaplastic glioma Oligodendroglioma Homozygous deletion 1p-19q MLPA Electronic supplementary materialThe online version of this article doi:10.1186-1755-8166-7-1 contains supplementary material, which is available to authorized users.

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Autor: Miguel Torres-Martín - Carolina Peña-Granero - Fernando Carceller - Manuel Gutiérrez - Rommel R Burbano - Giovanny R Pi

Fuente: https://link.springer.com/



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