【佳學基因檢測】缺乏遺傳異常的轉(zhuǎn)移性 1 級腦膜瘤通常與不良預后相關

國內(nèi)腫瘤基因檢測十大公司解釋

小組討論《腫瘤個性治療的方法與措施》《Pathol Res Pract》在.?2022 Aug 24;238:154089.發(fā)表了一篇題目為《缺乏遺傳異常的轉(zhuǎn)移性 1 級腦膜瘤通常與不良預后相關》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由Valeria Barresi,?Rita T Lawlor,?Andrea Mafficini,?Eliana Gilioli,?Aldo Scarpa?等完成。促進了腫瘤的正確治療與個性化用藥的發(fā)展，進一步強調(diào)了基因信息檢測與分析的重要性。

腫瘤靶向藥物及正確治療臨床研究內(nèi)容關鍵詞：

AKT1,肺,腦膜瘤,轉(zhuǎn)移,顱底

腫瘤靶向治療基因檢測臨床應用結(jié)果

目的：腦膜瘤轉(zhuǎn)移是一種罕見的事件，主要在世界衛(wèi)生組織 (WHO) 3 級腫瘤中觀察到，盡管在 WHO 1 級腦膜瘤中也有報道。本研究旨在闡明 WHO 1 級腦膜瘤的轉(zhuǎn)移是否與更具侵襲性的病例中常見的遺傳異常有關。方法：使用 174 個基因組的下一代測序，我們分析了 WHO 級的遺傳改變1例顱底腦膜瘤及其配對肺轉(zhuǎn)移瘤在開顱22年后發(fā)現(xiàn)。結(jié)果：與原發(fā)腫瘤相似，肺轉(zhuǎn)移瘤未出現(xiàn)有絲分裂或惡性組織學征象。與他們來自顱內(nèi)腫瘤的起源一致，他們擁有與這個相同的基因改變。這些包括致病性突變p。 AKT1 的E17K 和NOTCH1 (p. P2133T)、SERPINB8 (p. H359Y) 和SMARCA4 (p. P277S) 中未知意義的變異。結(jié)論：E17K AKT1 突變常見于顱底腦膜瘤，無預后意義。我們的研究結(jié)果表明，1 級腦膜瘤的轉(zhuǎn)移獨立于基因改變（CDKN2A 純合缺失、pTERT 突變或 1p、9p、14q 和 18q 雜合性缺失），常見于更具侵襲性的腫瘤中。肺;腦膜瘤；轉(zhuǎn)移;顱底。

腫瘤發(fā)生與反復轉(zhuǎn)移國際數(shù)據(jù)庫描述：

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.