Pediatric Blood & Cancer · 2011 · 10 citations · 16 references
MedicineGeneticsOncologyCancer GeneticsMedical GeneticsMolecular OncologyBrain TumorsCancer CytogeneticsCancer GenomicsGene DuplicationNeurogenetic DisordersPediatric Brain TumorsAstrocytoma PathologyBrain Tumor PathologyChromosomal Copy Number AberrationsChromosomal DuplicationsDuplication SyndromesStructural Chromosomal AberrationsTandem DuplicationTandem Gene Duplication
Point mutations of EHMT1 or deletions and duplications of chromosome 9q34.3 are found in patients with variable neurologic and developmental disorders. Here, we present a child with congenital cataract, developmental and speech delay who developed a metastatic ganglioglioma with progression to anaplastic astrocytoma. Molecular analysis identified a novel constitutional tandem duplication in 9q34.3 with breakpoints in intron 1 of TRAF2 and intron 16 of EHMT1 generating a fusion transcript predicted to encode a truncated form of EHMT1. The ganglioglioma showed complex chromosomal aberrations with further duplication of the dup9q34. Thus, this unique tandem 9q34.3 duplication may impact brain tumor formation.
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