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首页> 外文期刊>Neuropathology: official journal of the Japanese Society of Neuropathology >Novel TLE4‐NTRK2 TLE4‐NTRK2 fusion in a ganglioglioma identified by array‐CGH and confirmed by NGS: Potential for a gene targeted therapy
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Novel TLE4‐NTRK2 TLE4‐NTRK2 fusion in a ganglioglioma identified by array‐CGH and confirmed by NGS: Potential for a gene targeted therapy

机译:新颖的TLE4-NTRK2 TLE4-NTRK2融合在由Array-CGH鉴定的Ganglioglioma中,并由NGS确认:潜在靶向治疗的潜力

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摘要

Gangliogliomas are rare neoplasms of the central nervous system that mostly originate in the temporal lobe and are associated with seizures. Literature mentions that BRAF mutations are most commonly associated with gangliogliomas. We discuss a unique case of ganglioglioma originating in the posterior fossa that showed multiple losses and a unique interstitial deletion at 9q21 by an array‐comparative genome hybridization (array‐CGH). The deletion led to a novel molecular fusion ( TLE4‐NTRK2 ) which was confirmed by next generation sequencing and provides a potential for a gene‐targeted therapy.
机译:Gangliogliomas是中枢神经系统的稀有肿瘤,主要源于颞叶,与癫痫发作相关。 文献提及BRAF突变最常与Gangliogliomas相关。 我们讨论了源自后窝的Ganglioglioma的独特案例,通过阵列对比基因组杂交(阵列-CGH)在9Q21上显示多损失和独特的间质缺失。 缺失导致了一种新的分子融合(TLE4-NTRK2),其通过下一代测序确认并提供了基因靶向治疗的潜力。

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