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P01.126 Frequent Tp53 and ATRX/DAXX gene alterations in giant cell IDH-Wildtype Glioblastomas

机译:P01.126巨大细胞IDH-野生型胶质母细胞瘤中频繁的Tp53和ATRX / DAXX基因改变

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摘要

BackgroundThe 2016 updated World Health Organization (WHO) classification system recognizes the morphological variant giant cell glioblastoma (GBM) as one rare variant of IDH-wildtype (IDH-wt) GBM. This variant account for <1% of all GBMs, occurs in young adults patients and have a slightly better prognosis that ordinary IDH-wt GBM. Histologically, it is characterized by the presence of bizarre and numerous multinucleated giant cells. The lack of a more precise definition of this morphological variant makes that sometimes the giant cell component is not taken into account, even though some evidences may suggest that it may be clinically relevant. This variant has not been characterized yet by specific genetic biomarkers such as other variants of GBM, e.g. epithelioid GBM with BRAF mutations or secondary GBM with IDH mutations. The purpose of our study is to determine whether there is a molecular genetic base underlying the giant cell morphological variant of GBM.
机译:背景技术2016年更新的世界卫生组织(WHO)分类系统将形态学变异巨细胞胶质母细胞瘤(GBM)识别为IDH野生型(IDH-wt)GBM的一种罕见变体。这种变异占所有GBM的<1%,发生在年轻的成年患者中,并且预后比普通IDH-wt GBM好。从组织学上讲,它的特点是存在奇异的多核巨细胞。缺乏对这种形态变异的更精确的定义使得有时不考虑巨细胞成分,即使一些证据表明它可能与临床有关。该变体尚未通过特定的遗传生物标记来表征,例如GBM的其他变体,例如GBM。具有BRAF突变的上皮样GBM或具有IDH突变的继发性GBM。我们研究的目的是确定GBM巨型细胞形态变异中是否存在分子遗传基础。

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