乳腺导管原位癌的影像学表现与分子分型、组织病理学分级及预后相关性的研究进展

刘琪, 常才, 李佳伟

  1. 复旦大学附属肿瘤医院超声医学科,复旦大学上海医学院肿瘤学系,上海 200032
  • 收稿日期:2023-07-24 修回日期:2024-01-08 出版日期:2024-02-29 发布日期:2024-03-14
  • 通信作者: 李佳伟
  • 作者简介:刘 琪(ORCID:0000-0003-1982-2445),住院医师。

摘要/Abstract

摘要:

乳腺导管原位癌(ductal carcinoma in situ,DCIS)是一种局限于乳腺终末导管,未突破基底膜的乳腺癌病理类型,与浸润性导管癌(invasive ductal carcinoma,IDC)关系密切,被认为是其前驱病变。当DCIS突破基底膜侵入周围组织可形成浸润灶,若单个浸润灶最大径线小于1 mm或多个浸润灶中最大者径线小于1 mm时,即定义为导管原位癌伴微浸润(ductal carcinoma in situ with microinvasion,DCIS-Mi),12% ~ 40%未经治疗和干预的DCIS会进展为IDC,DCIS和IDC可同时存在;但也有相当一部分DCIS始终不会进展,预后相对较好,DCIS的过度诊断和治疗成为目前的关注点。DCIS的组织学分级主要依据细胞核的形态分为低、中、高3个核级,受体的表达情况、分子分型的分布在DCIS、DCIS-Mi和IDC之间也存在着显著差异。伴或不伴微浸润及不同组织学分级的DCIS的临床处理方式、治疗方案、预后及患者风险收益情况有较大差别,也一直存在较多争议。现代影像学技术的发展初步实现了对其组织学分级、浸润情况及患者预后的评估。目前临床上最常用的乳腺影像学检查技术主要有钼靶X线摄影(mammography,MG)、超声和磁共振成像(magnetic resonance imaging,MRI)等,3种检查技术的成像原理不同,在乳腺疾病影像诊断中各有优势和不足,但又可互为补充,在病变诊断、治疗及预后评估中发挥着重要的作用。乳腺钼靶X线摄影具有安全可靠、重复性好的优点,是国际指南推荐的首选的乳腺癌筛查方式,DCIS在钼靶X线片上的主要表现可分为非钙化型病变和钙化型病变;在超声上主要表现为肿块型和非肿块型病变,后者又可分为低回声改变、钙化、导管改变和结构紊乱扭曲等;MRI对不伴钙化及多灶性DCIS的检出比钼靶X线摄影敏感性更高,对病变范围的评估准确性更高,但也存在诊断特异性不高、对微钙化显示不敏感等不足;此外,影像组学在DCIS的组织病理学评估预测及指导个体化精准治疗方面潜力巨大。在当前精准医疗时代,影像学特征、组织病理学检查结果、基因检测结果等在预测患者预后方面的价值日益显现,DCIS的早期精确诊断及明确分子分型在临床工作中亦极为重要。通过分子分型、组织学分级和影像表现来预测不同治疗可能带来的获益,以制订最合适的个体化治疗方案已成为目前临床治疗的共识。本文就DCIS的影像学表现与分子分型、组织病理学及预后方面的相关性研究新进展进行综述。

关键词: 导管原位癌, 钼靶X线检查, 超声, 磁共振成像, 影像组学

Abstract:

Ductal carcinoma in situ (DCIS), a pathological type of breast cancer that is limited to the terminal ducts of the breast without breaking through the basement membrane, is considered as the precursor of invasive ductal carcinoma (IDC). When DCIS breaks through the basement membrane and invades surrounding tissues, it can form infiltrating lesions. If the maximum diameter of a single infiltrating lesion is less than 1mm or the maximum diameter of multiple infiltrating lesions is less than 1mm, it is defined as ductal carcinoma in situ with microinvasion (DCIS-Mi). About 12%-40% of untreated and intervened DCIS will progress to IDC, and DCIS and IDC can also coexist. However, there is a considerable portion of DCIS that never progresses with good prognosis. Recently, overdiagnosis and overtreatment of DCIS have become the research hotspots. The histological grade of DCIS is mainly based on the morphology of the nucleus, which is divided into three nuclear levels: low, medium, and high. There are also significant differences in receptor expression and molecular type distribution between DCIS, DCIS-Mi, and IDC. For DCIS with or without microinvasion as well as different histological grades, there are many controversies about the treatment regimen, clinical prognosis and risk. The development of modern imaging technology has achieved preliminary evaluation of histological grading, infiltration status, and prognosis prediction of DCIS. The most commonly used breast imaging techniques in clinical practice currently include mammography (MG), ultrasound (US), and magnetic resonance imaging (MRI). The imaging principles of these three techniques are different, and each has its own advantages and disadvantages in breast disease imaging diagnosis. However, they can complement each other and play an important role in disease diagnosis, treatment, and prognosis evaluation. Mammography has the advantages of safety, reliability and good repeatability. It is the preferred screening method for breast cancer recommended by international guidelines. The main manifestations of DCIS on MG can be divided into non calcified lesions and calcified lesions. On US, the main manifestations are lesions and non-lesion type, which can be further divided into hypoechoic changes, calcification, ductal changes, and structural disorders and distortions. MRI has higher sensitivity in detecting DCIS without calcification and multifocal DCIS compared with MG, and has higher accuracy in evaluating the lesion range. However, there are also shortcomings such as low diagnostic specificity and insensitivity to microcalcification display. In addition, radiomics has great potential in the histopathological evaluation, prediction, and guidance of individualized precision treatment of DCIS. In the current era of precision medicine, image features, histopathology, molecular genes, etc. are increasingly significant in predicting the prognosis of breast cancer. The early accurate diagnosis and molecular type of DCIS are also extremely important in clinical work. It has become a consensus in clinical treatment to predict the potential benefits of different treatments through molecular typing, histological grade, and imaging findings, in order to develop the most suitable personalized treatment plan. This article reviewed the correlation between imaging features and the molecular subtype, histopathology and prognosis of DCIS.

Key words: Ductal carcinoma in situ, Mammography, Ultrasound, Magnetic resonance imaging, Radiomics

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