Can deep-learning algorithms identify genetic mutations or aberrant cellular signalling pathways from medical images?

我们的项目将确定在肿瘤中发现的与癌症相关的基因突变是否可以通过医学成像检测出来。肿瘤由一系列遗传错误引起，这些错误决定了肿瘤的大部分行为，包括其侵袭性和对治疗的反应。在日常医学成像中，一旦患者接受了医学扫描，专家将查看图像并提供诊断（例如，有时，获取活组织检查（肿瘤样本）以更好地确定癌症的亚型。我们的项目旨在通过提供使用人工智能和先进的计算机软件提取的额外信息来帮助医生。这些已经被认为是优于人类的上级在寻找和量化微妙的图像特征。我们假设这些图像特征可以预测癌症亚型及其最佳治疗。首先，这个软件必须经过训练才能识别突变。由于人类肿瘤的变异性很大，很难区分由个体内在变异性引起的视觉特征和由突变引起的视觉特征。为了克服这一点，我们将使用基因工程小鼠模型-这些小鼠将具有导致癌症的特定突变，但动物之间的变异性有限。这将使我们能够训练一个软件来识别具有特定突变的肿瘤。如果成功，我们的项目将最终导致软件工具具有类似于活检的功能，以及更好和更少的癌症管理。

Our project will determine if cancer-related genetic mutations found in tumours can be detected using medicalimaging. Tumours arise from a series of genetic errors, and these determine much of the behaviour of a tumour,including its aggressiveness and its response to a treatment. In day-to-day medical imaging, once a patient hasundergone a medical scan, a specialist will look at the images and provide a diagnosis (e.g., liver cancer).Sometimes, a biopsy (tumour sample) is acquired to better determine the subtype of cancer. Our project aims atassisting physicians by providing them with additional information extracted using artificial intelligence andadvanced computer software. These are already known to be superior to humans in finding and quantifyingsubtle image characteristics. We hypothesize that these image characteristics could be predictive of the cancersubtype and its optimal treatment. First, this software has to be trained to recognize mutations. Because humantumours vary a lot, it is difficult to differentiate visual characteristics caused by an individual inherentvariability from those caused by the mutation. To overcome this, we will use genetically engineered mousemodels - these will have specific mutations that will result in cancer but with limited variability betweenanimals. This will allow us to train a software to recognize tumours that have specific mutations. If successful,our project will ultimately lead to software tools with capabilities similar to biopsies, and better and lessinvasive management of cancer.