【佳学基因检测】肿瘤的一般形态学和生物学特征：分子发现的整合

基因检测—实操性

数据分析博士医师年度双基练习《肿瘤治疗效果与基因检测结果的相关性》《Histopathology》在. 2008 Jul;53(1):1-19.发表了一篇题目为《肿瘤的一般形态学和生物学特征：分子发现的整合》肿瘤靶向药物治疗基因检测临床研究文章。该研究由S J Diaz-Cano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

这篇综述强调了形态-分子相关性对于正确实施新标记的重要性。它涵盖了肿瘤发生的一般方面（在分析分子途径的论文中通常省略）和肿瘤获得能力的一般机制。这些机制还得到了每种获得能力的适当图表的支持，其中包括被忽视的特征，例如细胞资源的动员和染色质、转录和表观遗传学的变化；完全接受的癌基因和肿瘤抑制基因被突出显示，而通路也以适当的颜色编码呈现为激活或失活。最后，提出的概念和机制使基因解码基因检测能够了解在临床实践中适当实施分子检测的基本要求。总之，提出的基本发现可作为临床应用的桥梁。目前对肿瘤的定义是描述性的，难以常规应用。在生物学上，肿瘤通过获得涉及肿瘤细胞方面和改变的微环境相互作用的能力而发展，由于影响关键分子途径的协同遗传改变的逐步积累，导致不受限制的生长。这些分子方面与形态变化的相关性对于更好地理解早期肿瘤/癌前病变、进展/去分化和肿瘤内异质性等基本概念至关重要。获得的能力包括自我维持复制（细胞周期失调）、延长细胞存活（细胞周期停滞、细胞凋亡失调和复制寿命）、遗传不稳定性（染色体和微卫星）、染色质的变化、转录和表观遗传学、细胞资源的调动和修饰的微环境相互作用（肿瘤细胞、基质细胞、细胞外、内皮细胞）。获得的定义肿瘤的能力是癌症的标志，但它们也包括改善诊断和预后的有用工具，以及潜在的治疗目标。这些概念在肿瘤病理学中的应用导致考虑可靠实施的分子测试要求（分子测试评分系统）；这些要求应涵盖生物效应、分子途径、生物验证和技术验证。分子标志物在肿瘤病理学中的合理应用总是需要坚实的形态学支持。

肿瘤发生与复发转移国际数据库描述：

This review highlights the importance of morphology-molecular correlations for a proper implementation of new markers. It covers both general aspects of tumorigenesis (which are normally omitted in papers analysing molecular pathways) and the general mechanisms for the acquired capabilities of neoplasms. The mechanisms are also supported by appropriate diagrams for each acquired capability that include overlooked features such as mobilization of cellular resources and changes in chromatin, transcription and epigenetics; fully accepted oncogenes and tumour suppressor genes are highlighted, while the pathways are also presented as activating or inactivating with appropriate colour coding. Finally, the concepts and mechanisms presented enable us to understand the basic requirements for the appropriate implementation of molecular tests in clinical practice. In summary, the basic findings are presented to serve as a bridge to clinical applications. The current definition of neoplasm is descriptive and difficult to apply routinely. Biologically, neoplasms develop through acquisition of capabilities that involve tumour cell aspects and modified microenvironment interactions, resulting in unrestricted growth due to a stepwise accumulation of cooperative genetic alterations that affect key molecular pathways. The correlation of these molecular aspects with morphological changes is essential for better understanding of essential concepts as early neoplasms/precancerous lesions, progression/dedifferentiation, and intratumour heterogeneity. The acquired capabilities include self-maintained replication (cell cycle dysregulation), extended cell survival (cell cycle arrest, apoptosis dysregulation, and replicative lifespan), genetic instability (chromosomal and microsatellite), changes of chromatin, transcription and epigenetics, mobilization of cellular resources, and modified microenvironment interactions (tumour cells, stromal cells, extracellular, endothelium). The acquired capabilities defining neoplasms are the hallmarks of cancer, but they also comprise useful tools to improve diagnosis and prognosis, as well as potential therapeutic targets. The application of these concepts in oncological pathology leads to consideration of the molecular test requirements (Molecular Test Score System) for reliable implementation; these requirements should cover biological effects, molecular pathway, biological validation, and technical validation. Sensible application of molecular markers in tumour pathology always needs solid morphological support.