Precision Medicine and Radiogenomics in Breast Cancer: New Approaches toward Diagnosis and Treatment

Abstract

Precision medicine is medicine optimized to the genotypic and phenotypic characteristics of an individual and, when present, his or her disease. It has a host of targets, including genes and their transcripts, proteins, and metabolites. Studying precision medicine involves a systems biology approach that integrates mathematical modeling and biology genomics, transcriptomics, proteomics, and metabolomics. Moreover, precision medicine must consider not only the relatively static genetic codes of individuals, but also the dynamic and heterogeneous genetic codes of cancers. Thus, precision medicine relies not only on discovering identifiable targets for treatment and surveillance modification, but also on reliable, noninvasive methods of identifying changes in these targets over time. Imaging via radiomics and radiogenomics is poised for a central role. Radiomics, which extracts large volumes of quantitative data from digital images and amalgamates these together with clinical and patient data into searchable shared databases, potentiates radiogenomics, which is the combination of genetic and radiomic data. Radiogenomics may provide voxel-by-voxel genetic information for a complete, heterogeneous tumor or, in the setting of metastatic disease, set of tumors and thereby guide tailored therapy. Radiogenomics may also quantify lesion characteristics, to better differentiate between benign and malignant entities, and patient characteristics, to better stratify patients according to risk for disease, thereby allowing for more precise imaging and screening. This report provides an overview of precision medicine and discusses radiogenomics specifically in breast cancer. RSNA, 2018.

Deep learning radiomics can predict axillary lymph node status in early-stage breast cancer

“…Further study is needed to build other model to predict ALN status for patients with multifocal breast lesions and bilateral disease. Third, gene markers of breast cancer like BRCA1 and BRCA2, are used to stratify patients based on the risk for disease 43 . However, radiogenomics, focusing on the relationship between genomics and imaging phenotypes, is not available currently although it is an interesting attempt.…”

Magnetic resonance imaging and molecular features associated with tumor-infiltrating lymphocytes in breast cancer

“…Our study adds to the growing body of literature where a more detailed comprehensive analysis of imaging phenotypes could reveal the underlying tumor pathophysiology at the molecular or pathological level [17–28, 53–55]. Different from previous radiogenomic studies that focused on analyses of imaging and genomic properties of the tumor, our study focused on immune infiltration in the stroma and included imaging features of the tumor as well as its surrounding parenchymal tissue.…”

Digital Analysis in Breast Imaging

“…Computational modelling and machine learning (ML) approaches are often used in a hypothesis-generating approach to link the high-dimensional image feature space to a specific endpoint. As such, radiomics can be seen as the radiological interpretation of the systems biology approach [68]: Systems biology is the study of complex biologic systems, which relies on integrating multifaceted data about genes, metabolism, protein expression, and other components. Systems biology approaches encompass data from many scientific disciplines and form an integral part of precision medicine.…”

“…In the following, we present key studies in these fields. For a more comprehensive overview, please refer, for example, to Pinker et al [68] or Crivelli et al [71]. It should be noted, however, that most of these studies have been performed in a retrospective fashion and require validation in prospective studies.…”