Abstract
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.
Original language | English (US) |
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Pages (from-to) | 801-805 |
Number of pages | 5 |
Journal | Pediatric Blood and Cancer |
Volume | 58 |
Issue number | 5 |
DOIs | |
State | Published - May 2012 |
Externally published | Yes |
Keywords
- 9q34
- EHMT1
- Ganglioglioma
- Histone methyltransferase
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Hematology
- Oncology