【广东会GDH基因检测】缺乏遗传异常的转移性 1 级脑膜瘤通常与不良预后相关
国内肿瘤基因检测十大公司解释
小组讨论《肿瘤个性治疗的方法与措施》《Pathol Res Pract》在. 2022 Aug 24;238:154089.发表了一篇题目为《缺乏遗传异常的转移性 1 级脑膜瘤通常与不良预后相关》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Valeria Barresi, Rita T Lawlor, Andrea Mafficini, Eliana Gilioli, Aldo Scarpa 等完成。促进了肿瘤的正确治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。
肿瘤靶向药物及正确治疗临床研究内容关键词：
AKT1,肺,脑膜瘤,转移,颅底
肿瘤靶向治疗基因检测临床应用结果
目的：脑膜瘤转移是一种罕见的事件，主要在世界卫生组织 (WHO) 3 级肿瘤中观察到，尽管在 WHO 1 级脑膜瘤中也有报道。本研究旨在阐明 WHO 1 级脑膜瘤的转移是否与更具侵袭性的病例中常见的遗传异常有关。方法：使用 174 个基因组的下一代测序，我们分析了 WHO 级的遗传改变1例颅底脑膜瘤及其配对肺转移瘤在开颅22年后发现。结果：与原发肿瘤相似，肺转移瘤未出现有丝分裂或恶性组织学征象。与他们来自颅内肿瘤的起源一致，他们拥有与这个相同的基因改变。这些包括致病性突变p。 AKT1 的E17K 和NOTCH1 (p. P2133T)、SERPINB8 (p. H359Y) 和SMARCA4 (p. P277S) 中未知意义的变异。结论：E17K AKT1 突变常见于颅底脑膜瘤，无预后意义。我们的研究结果表明，1 级脑膜瘤的转移独立于基因改变（CDKN2A 纯合缺失、pTERT 突变或 1p、9p、14q 和 18q 杂合性缺失），常见于更具侵袭性的肿瘤中。肺;脑膜瘤；转移;颅底。
肿瘤发生与反复转移国际数据库描述：
Aims: Meningioma metastasis is a rare event, observed primarily in World Health Organization (WHO) grade 3 tumors, although it has also been reported in WHO grade 1 meningiomas. This study aims at clarifying whether the metastasis of a WHO grade 1 meningioma was associated with genetic abnormalities commonly found in cases that are more aggressive.Methods: Using next generation sequencing of a panel of 174 genes, we analyzed the genetic alterations of a WHO grade 1 skull-base meningioma and its paired lung metastases detected 22 years after craniotomy.Results: Similar to the primary tumor, lung metastases did not show mitoses or histological signs of malignancy. Consistent with their origin from intracranial tumor, they harbored the same genetic alterations as this one. These consisted of the pathogenic mutation p. E17K of AKT1 and variants of unknown significance in NOTCH1 (p. P2133T), SERPINB8 (p. H359Y) and SMARCA4 (p. P277S).Conclusions: The E17K AKT1 mutation is frequently found in skull base meningiomas and without prognostic significance. Our findings suggest that metastasis of grade 1 meningiomas is independent of genetic alterations (CDKN2A homozygous deletion, pTERT mutation, or 1p, 9p, 14q and 18q loss of heterozygosity) commonly found in more aggressive tumors.Keywords: AKT1; Lung; Meningioma; Metastasis; Skull base.
(责任编辑：广东会GDH基因)
