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.
Highlights
Pediatric oligodendrogliomas are rare and appear to show a different molecular profile from adult tumors
In this report we describe the partial concurrent homozygous deletion at 1p/19q in an anaplastic glioma that took place in a 6-year-old boy
DNA from an oligodendroglioma with known 1p/19q loss was used as a positive control, and DNA from four healthy volunteers were used as references for multiplex ligation-dependent probe amplification (MLPA) reactions
Summary
Pediatric oligodendrogliomas are rare and appear to show a different molecular profile from adult tumors. The molecular biology of adult malignant gliomas is well defined for tumors with either astrocytic or oligodendroglial characteristics Both types of gliomas are very complex and genetically heterogeneous, with multiple alterations in critical pathways, primarily alterations of MGMT (methylation), IDH1/2 (mutation), 1p/19q co-deletion, EGFR and PI3K pathway variations, and p53 or Rb pathway mutation [5,6]. Among the pediatric malignant gliomas, EGFR gene amplification appears to occur less frequently than in tumors from adult patients, and only 2% have the EGFRvIII variant It appears that PDGFRA and PDGFRB are more commonly affected in high-grade pediatric gliomas [1,7,8]. This event might provide insights on a subgroup of pediatric (oligodendro)-gliomas with 1p/19q involvement
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