同时的驱动突变会在放射性成像上诱导不同的瘤形态
Diana Ivonne Rodríguez Sánchez1, Thera Vanneste2, Julian Middelkoop2
1GROW Research Institute for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands; Department of Radiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
European journal of radiology
|February 27, 2026
概括
癌症共同突变产生独特的成像表型,与单一突变不同,揭示了复杂的瘤生物学. 放射基因组学必须明确地建模这些共同突变背景,以准确的非侵入性癌症分层.
科学领域:
- 放射基因组学是指放射基因组学.
- 癌症基因组学 癌症基因组学
- 医疗成像医学成像
背景情况:
- 大多数放射基因组研究都将单一驱动器突变单独分析.
- 同时发生的驱动器变化在癌症中很常见,并且可以在功能上相互作用.
- 目前尚不清楚并发突变是否会产生独特的成像表型,或者仅仅是单个突变效应的平均值.
研究的目的:
- 为了调查癌症患者同时发生的驱动突变是否会导致与单个突变相比不同的成像表型.
- 为了确定并发突变是否会对成像特征产生附加性或突发性影响.
- 探索放射学在识别多种癌症队列中的基因型特异性表型中的实用性.
主要方法:
- 从对比度增强的CT扫描和匹配的基因组分析中对1235名患有8633个细分病变的患者进行了回顾性分析.
- 跨患者群体的成像表型的比较:没有驱动突变,TP53 + 其他,仅TP53,仅EGFR,仅KRAS,以及特定的共同突变 (TP53 + EGFR,TP53 + KRAS).
- 用心点距离和跨组患者间距离量化表型分离,并减少损伤水平的维度和父轴几何分析,以测试超出附加性的出现.
主要成果:
- 单基因突变群体 (只有EGFR与只有KRAS,只有TP53与只有EGFR) 呈现出不同的表型.
- 在患者层面和病变层面的分析中,共同突变的瘤与单一突变的母组分离.
- 同变异的病变在形态上更接近TP53-only队列,而不是仅EGFR或KRAS-only队列.
- 在TP53+EGFR共同突变中,超出添加性的出现得到了统计学上的支持,在TP53+KRAS中趋势.
结论:
- CT放射学可以在各种癌症中识别基因型特定的表型.
- 共同突变产生了通过成像检测到的独特的形态特征.
- 对共同突变背景的明确建模对于推进放射基因组学和使癌症的非侵入性分子分层成为可能至关重要.
相关概念视频
02:21Cancers Originate from Somatic Mutations in a Single Cell
15.2K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
15.2K
02:07Tumor Progression
7.6K
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
7.6K
01:33Cancer-Critical Genes I: Proto-oncogenes
11.6K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
11.6K
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
9.9K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
9.9K
02:53Adaptive Mechanisms in Cancer Cells
7.2K
Cancer cells accumulate genetic changes at an abnormally rapid rate due to the defects in the DNA repair mechanisms. From an evolutionary perspective, such genetic instability is advantageous for cancer development. Mutant cell lines accumulate a series of beneficial mutations that contribute to their progression into cancer.
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
7.2K
02:18Cancer
55.1K
Cancers arise due to mutations in genes involved in the regulation of cell division, which leads to unrestricted cell proliferation. Modern science and medicine have made great strides in the understanding and treatment of cancer, including eradicating cancer in some patients. However, there is still no cure for cancer. This is largely due to the fact that cancer is a large group of many diseases.
55.1K