【佳学基因检测】遗传和微环境肿瘤内异质性影响结直肠癌的进化和转移发展

肿瘤基因检测费用热点

与同行交流时肿瘤检测的时间与空间对治疗效果的影响知道《Commun Biol》在. 2022 Sep 9;5(1):937.发表了一篇题目为《遗传和微环境肿瘤内异质性影响结直肠癌的进化和转移发展》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Daniel Sobral #, Marta Martins #, Shannon Kaplan, Mahdi Golkaram, Michael Salmans, Nafeesa Khan, Raakhee Vijayaraghavan, Sandra Casimiro, Afonso Fernandes, Paula Borralho, Cristina Ferreira, Rui Pinto, Catarina Abreu, Ana Lúcia Costa, Shile Zhang, Traci Pawlowski, Jim Godsey, André Mansinho, Daniela Macedo, Soraia Lobo-Martins, Pedro Filipe, Rui Esteves, João Coutinho, Paulo Matos Costa, Afonso Ramires, Fernando Aldeia, António Quintela, Alex So, Li Liu, Ana Rita Grosso, Luis Costa等完成。促进了肿瘤的精准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。

肿瘤靶向药物及精准治疗临床研究内容关键词：

肿瘤靶向治疗基因检测临床应用结果

结直肠癌 (CRC) 是一种高度多样化的疾病，其中不同的基因组不稳定性途径塑造了遗传克隆多样性和肿瘤微环境。尽管肿瘤内异质性已在原发性肿瘤中得到表征，但其在 CRC 结果中的起源和后果尚不完全清楚。因此，我们评估了 136 个 CRC 样本的前瞻性队列的肿瘤内和肿瘤间异质性。我们证明 CRC 多样性是由异步形式的分子改变形成的，其中突变和染色体不稳定性共同提高了 CRC 遗传和微环境肿瘤内异质性。我们能够描述癌症相关基因的预测特征，这些特征可以预测不同肿瘤共有分子亚型 (CMS) 和原发性肿瘤位置的异质性水平。最后，我们表明高遗传和微环境异质性与较低的转移潜力相关，而后期出现的拷贝数变异有利于转移发展和多克隆播种。本研究详尽地描述了跨 CMS 亚型的遗传和微环境肿瘤内异质性之间的相互作用，描绘了具有预测 CRC 进展和转移发展价值的分子事件。

肿瘤发生与复发转移国际数据库描述：

Colorectal cancer (CRC) is a highly diverse disease, where different genomic instability pathways shape genetic clonal diversity and tumor microenvironment. Although intra-tumor heterogeneity has been characterized in primary tumors, its origin and consequences in CRC outcome is not fully understood. Therefore, we assessed intra- and inter-tumor heterogeneity of a prospective cohort of 136 CRC samples. We demonstrate that CRC diversity is forged by asynchronous forms of molecular alterations, where mutational and chromosomal instability collectively boost CRC genetic and microenvironment intra-tumor heterogeneity. We were able to depict predictor signatures of cancer-related genes that can foresee heterogeneity levels across the different tumor consensus molecular subtypes (CMS) and primary tumor location. Finally, we show that high genetic and microenvironment heterogeneity are associated with lower metastatic potential, whereas late-emerging copy number variations favor metastasis development and polyclonal seeding. This study provides an exhaustive portrait of the interplay between genetic and microenvironment intra-tumor heterogeneity across CMS subtypes, depicting molecular events with predictive value of CRC progression and metastasis development.

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