9q34 串联重复导致 EHMT1 截短与儿童的神经节胶质瘤相关。
Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma.
机构信息
Texas Children's Cancer Center, Baylor College of Medicine, Houston, Texas, USA.
出版信息
Pediatr Blood Cancer. 2012 May;58(5):801-5. doi: 10.1002/pbc.23219. Epub 2011 Jun 16.
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.
摘要
EHMT1 的点突变或 9q34.3 染色体的缺失和重复可在伴有各种神经和发育障碍的患者中发现。在这里，我们介绍了一位患有先天性白内障、发育和语言延迟的儿童，其发展为具有进展为间变性星形细胞瘤的转移性神经节神经胶质瘤。分子分析在 9q34.3 中鉴定出了一种新型的串联重复，其断裂点位于 TRAF2 的内含子 1 和 EHMT1 的内含子 16 中，产生了一种融合转录本，预测编码 EHMT1 的截断形式。神经节神经胶质瘤显示出复杂的染色体异常，dup9q34.3 进一步重复。因此，这种独特的串联 9q34.3 重复可能会影响脑肿瘤的形成。
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