Yoon Kyung-Hwak, Kim Eun-Kyu, Shin Hee-Chul
Department of Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.
Ann Surg Treat Res. 2024 Dec;107(6):327-335. doi: 10.4174/astr.2024.107.6.327. Epub 2024 Dec 2.
Although the breast cancer susceptibility gene -associated invasive breast cancer is well studied, there are limited reports on ductal carcinoma (DCIS) in patients with mutations. This study aims to evaluate the differential prognostic effect of DCIS in breast cancer patients with pathologic variants of genes.
Breast cancer patients who tested positive for mutations between August 2003 and January 2022 at a single tertiary referral center were retrospectively analyzed. Survival outcomes were compared between patients with both invasive ductal carcinoma (IDC) and DCIS (IDC-DCIS group, n = 121) and those with IDC alone (IDC group, n = 36).
Of the 157 patients, 65 (41.4%) exhibited mutations in , 90 (57.3%) in , and 2 (1.3%) in both . DCIS components were more frequently found in pathological variants (, 46 [38.0%] , 76 [62.4%]; P = 0.030). No statistically significant difference was found in 10-year recurrence-free survival (IDC-DCIS, 89.3% IDC, 83.6%; P = 0.989). Subgroup analysis indicated that the DCIS component correlated with improved survival outcomes in the subgroup ( IDC-DCIS, 85.5% IDC, 51.0%; P = 0.024). Conversely, in the subgroup, IDC-DCIS patients exhibited a worse prognosis ( IDC-DCIS, 85.5% IDC-DCIS, 65.8%; P = 0.045).
The presence of a DCIS component carries varied prognostic significance in and mutations. A tailored approach may be necessary when determining treatment options for breast cancer patients with mutations based on the presence of DCIS.
尽管对乳腺癌易感基因相关的浸润性乳腺癌已有充分研究，但关于携带基因突变的患者发生导管原位癌（DCIS）的报道有限。本研究旨在评估DCIS在携带基因病理变异的乳腺癌患者中的差异预后效应。
对2003年8月至2022年1月在某单一三级转诊中心检测出基因突变呈阳性的乳腺癌患者进行回顾性分析。比较同时患有浸润性导管癌（IDC）和DCIS的患者（IDC-DCIS组，n = 121）与仅患有IDC的患者（IDC组，n = 36）的生存结局。
在这157例患者中，65例（41.4%）表现出基因的突变，90例（57.3%）表现出基因的突变，2例（1.3%）同时表现出两种基因的突变。DCIS成分在基因病理变异中更常见（基因，46例[38.0%]；基因，76例[62.4%]；P = 0.030）。10年无复发生存率无统计学显著差异（IDC-DCIS组为89.3%，IDC组为83.6%；P = 0.989）。亚组分析表明，在基因亚组中，DCIS成分与生存结局改善相关（IDC-DCIS组为85.5%，IDC组为51.0%；P = 0.024）。相反，在基因亚组中，IDC-DCIS患者预后较差（IDC-DCIS组为85.5%，IDC-DCIS组为65.8%；P = 0.045）。
DCIS成分在基因和基因的突变中具有不同的预后意义。在根据DCIS的存在为携带基因突变的乳腺癌患者确定治疗方案时，可能需要采取针对性的方法。
