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异柠檬酸脱氢酶野生型胶质母细胞瘤的多区域测序揭示了高度的遗传异质性和动态的进化史。

Multiregional Sequencing of IDH-WT Glioblastoma Reveals High Genetic Heterogeneity and a Dynamic Evolutionary History.

作者信息

Franceschi Sara, Civita Prospero, Pasqualetti Francesco, Lessi Francesca, Modena Martina, Barachini Serena, Morelli Mariangela, Santonocito Orazio, Vannozzi Riccardo, Pilkington Geoffrey J, Ortenzi Valerio, Naccarato Antonio Giuseppe, Aretini Paolo, Mazzanti Chiara Maria

机构信息

Fondazione Pisana per la Scienza, 56017 Pisa, Italy.

School of Pharmacy and Pharmaceutical Sciences, College of Biomedical and Life Sciences, Cardiff University, Cardiff CF10 3NB, UK.

出版信息

Cancers (Basel). 2021 Apr 23;13(9):2044. doi: 10.3390/cancers13092044.

Abstract

Glioblastoma is one of the most common and lethal primary neoplasms of the brain. Patient survival has not improved significantly over the past three decades and the patient median survival is just over one year. Tumor heterogeneity is thought to be a major determinant of therapeutic failure and a major reason for poor overall survival. This work aims to comprehensively define intra- and inter-tumor heterogeneity by mapping the genomic and mutational landscape of multiple areas of three primary IDH wild-type (IDH-WT) glioblastomas. Using whole exome sequencing, we explored how copy number variation, chromosomal and single loci amplifications/deletions, and mutational burden are spatially distributed across nine different tumor regions. The results show that all tumors exhibit a different signature despite the same diagnosis. Above all, a high inter-tumor heterogeneity emerges. The evolutionary dynamics of all identified mutations within each region underline the questionable value of a single biopsy and thus the therapeutic approach for the patient. Multiregional collection and subsequent sequencing are essential to try to address the clinical challenge of precision medicine. Especially in glioblastoma, this approach could provide powerful support to pathologists and oncologists in evaluating the diagnosis and defining the best treatment option.

摘要

胶质母细胞瘤是最常见且致命的原发性脑肿瘤之一。在过去三十年里,患者生存率并未显著提高,患者的中位生存期仅略超过一年。肿瘤异质性被认为是治疗失败的主要决定因素,也是总体生存率低的主要原因。这项工作旨在通过绘制三个原发性异柠檬酸脱氢酶野生型(IDH-WT)胶质母细胞瘤多个区域的基因组和突变图谱,全面定义肿瘤内和肿瘤间的异质性。使用全外显子组测序,我们探究了拷贝数变异、染色体和单基因座扩增/缺失以及突变负荷如何在九个不同肿瘤区域中进行空间分布。结果表明,尽管诊断相同,但所有肿瘤都呈现出不同的特征。最重要的是,出现了高度的肿瘤间异质性。每个区域内所有已识别突变的进化动态突显了单次活检的可疑价值,进而突显了针对患者的治疗方法的可疑价值。多区域采集及后续测序对于应对精准医学的临床挑战至关重要。尤其是在胶质母细胞瘤中,这种方法可为病理学家和肿瘤学家评估诊断及确定最佳治疗方案提供有力支持。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaa7/8122908/10d2e3ee4eb9/cancers-13-02044-g001.jpg

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