Demetriou Demetra, Lockhat Zarina, Brzozowski Luke, Saini Kamal S, Dlamini Zodwa, Hull Rodney
SAMRC Precision Oncology Research Unit (PORU), DSI/NRF SARChI Chair in Precision Oncology and Cancer Prevention (POCP), Pan African Cancer Research Institute (PACRI), University of Pretoria, Hatfield, Pretoria 0028, South Africa.
Department of Radiology, Faculty of Health Sciences, Steve Biko Academic Hospital, University of Pretoria, Hatfield, Pretoria 0028, South Africa.
Cancers (Basel). 2024 Mar 6;16(5):1076. doi: 10.3390/cancers16051076.
Despite significant progress in the prevention, screening, diagnosis, prognosis, and therapy of breast cancer (BC), it remains a highly prevalent and life-threatening disease affecting millions worldwide. Molecular subtyping of BC is crucial for predictive and prognostic purposes due to the diverse clinical behaviors observed across various types. The molecular heterogeneity of BC poses uncertainties in its impact on diagnosis, prognosis, and treatment. Numerous studies have highlighted genetic and environmental differences between patients from different geographic regions, emphasizing the need for localized research. International studies have revealed that patients with African heritage are often diagnosed at a more advanced stage and exhibit poorer responses to treatment and lower survival rates. Despite these global findings, there is a dearth of in-depth studies focusing on communities in the African region. Early diagnosis and timely treatment are paramount to improving survival rates. In this context, radiogenomics emerges as a promising field within precision medicine. By associating genetic patterns with image attributes or features, radiogenomics has the potential to significantly improve early detection, prognosis, and diagnosis. It can provide valuable insights into potential treatment options and predict the likelihood of survival, progression, and relapse. Radiogenomics allows for visual features and genetic marker linkage that promises to eliminate the need for biopsy and sequencing. The application of radiogenomics not only contributes to advancing precision oncology and individualized patient treatment but also streamlines clinical workflows. This review aims to delve into the theoretical underpinnings of radiogenomics and explore its practical applications in the diagnosis, management, and treatment of BC and to put radiogenomics on a path towards fully integrated diagnostics.
尽管在乳腺癌(BC)的预防、筛查、诊断、预后和治疗方面取得了重大进展,但它仍然是一种高度流行且危及生命的疾病,影响着全球数百万人。由于不同类型的乳腺癌表现出多样的临床行为,因此其分子分型对于预测和预后至关重要。乳腺癌的分子异质性给其对诊断、预后和治疗的影响带来了不确定性。众多研究强调了来自不同地理区域的患者之间的遗传和环境差异,凸显了开展本地化研究的必要性。国际研究表明,具有非洲血统的患者往往在更晚期被诊断出来,并且对治疗的反应较差,生存率较低。尽管有这些全球范围内的研究结果,但针对非洲地区社区的深入研究却很匮乏。早期诊断和及时治疗对于提高生存率至关重要。在这种背景下,放射基因组学成为精准医学中一个很有前景的领域。通过将基因模式与图像属性或特征相关联,放射基因组学有潜力显著改善早期检测、预后和诊断。它可以为潜在的治疗选择提供有价值的见解,并预测生存、进展和复发的可能性。放射基因组学能够将视觉特征与基因标记联系起来,有望消除活检和测序的需求。放射基因组学的应用不仅有助于推动精准肿瘤学和个体化患者治疗的发展,还能简化临床工作流程。本综述旨在深入探讨放射基因组学的理论基础,并探索其在乳腺癌诊断、管理和治疗中的实际应用,以使放射基因组学朝着完全整合诊断的方向发展。