下一代测序揭示了胶质母细胞瘤和脑膜瘤碰撞肿瘤的新突变。

Q1 Medicine CNS Oncology Pub Date : 2021-06-01 Epub Date: 2021-05-21 DOI:10.2217/cns-2020-0029
Kelly Chamberlin, Gregory Chamberlin, Katherine Saunders, Simon Khagi
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引用次数: 0

摘要

原发性颅内碰撞瘤在无易感因素的患者中是罕见的。我们报告一个42岁女性的病例,她表现为头痛和精神状态改变。影像学显示左侧顶枕脑室周围区单一异质、边缘增强病变,累及胼胝体。立体定向活检显示为胶质母细胞瘤。随后的肿瘤切除术显示为胶质母细胞瘤和脑膜瘤的组织学证据。对两种肿瘤成分进行新一代测序。胶质母细胞瘤表现出CDKN2A纯合缺失和TAF1L和CSMD3的新型错义突变,而脑膜瘤中没有确定的遗传改变。新一代测序可以深入了解颅内碰撞肿瘤的分子驱动因素,并有助于确定未来的治疗靶点。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Next-generation sequencing reveals novel mutations in a collision tumor of glioblastoma and meningioma.

Primary intracranial collision tumors are rare in patients without predisposing factors. We report such a case in a 42-year-old female who presented with headaches and altered mental status. Imaging revealed a single heterogeneous, rim-enhancing lesion in the left parieto-occipital periventricular region, involving the corpus callosum. Stereotactic biopsy demonstrated glioblastoma. Subsequent tumor resection showed histologic evidence of glioblastoma and meningioma. Next-generation sequencing was performed on both tumor components. The glioblastoma exhibited a CDKN2A homozygous deletion and novel missense mutations in TAF1L and CSMD3, while no definitive genetic alterations were identified in the meningioma. Next-generation sequencing may yield insight into molecular drivers of intracranial collision tumors and aid in identifying future therapeutic targets.

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来源期刊
CNS Oncology
CNS Oncology Medicine-Neurology (clinical)
CiteScore
3.80
自引率
0.00%
发文量
12
审稿时长
13 weeks
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