Ductal carcinoma in situ (DCIS) is a non-obligate precursor of invasive ductal carcinoma (IDC), whereby if left untreated, approximately 12% of patients develop invasive disease. The current standard of care is surgical removal of the lesion, to prevent potential progression, and radiotherapy to reduce risk of recurrence. There is substantial overtreatment of DCIS patients, considering not all DCIS lesions progress to invasive disease. Hence, there is a critical imperative to better predict which DCIS lesions are destined for poor outcome and which are not, allowing for tailored treatment. Active surveillance is currently being trialed as an alternative management practice, but this approach relies on accurately identifying cases that are at low risk of progression to invasive disease. Two DCIS-specific genomic profiling assays that attempt to distinguish low and high-risk patients have emerged, but imperfections in risk stratification coupled with a high price tag warrant the continued search for more robust and accessible prognostic biomarkers. This search has largely turned researchers toward the tumor microenvironment. Recent evidence suggests that a spectrum of cell types within the DCIS microenvironment are genetically and phenotypically altered compared to normal tissue and play critical roles in disease progression. Uncovering the molecular mechanisms contributing to DCIS progression has provided optimism for the search for well-validated prognostic biomarkers that can accurately predict the risk for a patient developing IDC. The discovery of such markers would modernize DCIS management and allow tailored treatment plans. This review will summarize the current literature regarding DCIS diagnosis, treatment, and pathology.

导管原位癌 (DCIS) 是浸润性导管癌 (IDC) 的非必然前兆，如果不及时治疗，大约 12% 的患者会发展为浸润性疾病。目前的护理标准是手术切除病变，以防止潜在的进展，并进行放射治疗以降低复发风险。考虑到并非所有 DCIS 病变都进展为侵袭性疾病，DCIS 患者存在严重的过度治疗。因此，迫切需要更好地预测哪些导管原位癌病变注定会导致不良结果，哪些不会，从而进行量身定制的治疗。目前正在试验主动监测作为一种替代管理实践，但这种方法依赖于准确识别进展为侵袭性疾病的低风险病例。两种试图区分低风险和高风险患者的 DCIS 特异性基因组分析测定已经出现，但风险分层的缺陷加上高昂的价格标签需要继续寻找更强大和更容易获得的预后生物标志物。这项研究在很大程度上将研究人员转向了肿瘤微环境。最近的证据表明，与正常组织相比，导管原位癌微环境中的一系列细胞类型在遗传和表型上发生了改变，并在疾病进展中发挥着关键作用。揭示导致 DCIS 进展的分子机制为寻找经过充分验证的预后生物标志物带来了乐观情绪，这些生物标志物可以准确预测患者发生 IDC 的风险。此类标记物的发现将使导管原位癌 (DCIS) 管理现代化并允许制定量身定制的治疗计划。本综述将总结当前有关 DCIS 诊断、治疗和病理学的文献。