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乳腺浸润性小叶癌的肿瘤突变负荷状态及临床特征

Tumor mutational burden status and clinical characteristics of invasive lobular carcinoma of the breast.

作者信息

Takano Yuko, Mizuno Kazuyuki, Iwase Madoka, Morita Sachi, Torii Nao, Kikumori Toyone, Ando Yuichi

机构信息

Department of Clinical Oncology and Chemotherapy, Nagoya University Hospital, 65 Tsurumai-Cho, Showa-Ku, Nagoya, Aichi, 466-8550, Japan.

Department of Breast and Endocrine Surgery, Nagoya University Hospital, 65 Tsurumai-Cho, Showa-Ku, Nagoya, Aichi, 466-8550, Japan.

出版信息

Breast Cancer. 2025 May 2. doi: 10.1007/s12282-025-01706-6.

Abstract

BACKGROUND

High tumor mutational burden (TMB-H) is an established biomarker for a favorable response to immune checkpoint inhibitors. However, tumor mutational burden (TMB) in invasive ductal carcinoma (IDC) and invasive lobular carcinoma (ILC) has not been sufficiently investigated.

METHODS

We collected data of patients with ILC or IDC from the Center for Cancer Genomics and Advanced Therapeutics database between June 2019 and August 2023. Furthermore, we examined the clinicopathological factors and TMB status.

RESULTS

Patients with ILC (n = 170) had a median TMB score of 4.00 mut/Mb (interquartile range, 2.00-7.14 mut/Mb), whereas those with IDC (n = 2598) had a score of 3.90 mut/Mb (2.00-6.00 mut/Mb). TMB-H was more common in patients with ILC than in those with IDC (18.2% vs. 10.1%, P < 0.001), particularly in the ER+ /HER2- subtype. Multivariate analysis revealed that the pathological diagnosis of ILC (P = 0.006), tissue samples collected from metastatic sites (P < 0.001), and older age (50 years, P < 0.001) were independent factors for TMB-H.

CONCLUSIONS

Patients with ILC were more likely to have TMB-H than those with IDC. The findings of this study would be invaluable in selecting treatment strategies for patients with ILC.

摘要

背景

高肿瘤突变负荷(TMB-H)是免疫检查点抑制剂疗效良好的既定生物标志物。然而,浸润性导管癌(IDC)和浸润性小叶癌(ILC)的肿瘤突变负荷(TMB)尚未得到充分研究。

方法

我们收集了2019年6月至2023年8月期间癌症基因组学与先进治疗中心数据库中ILC或IDC患者的数据。此外,我们检查了临床病理因素和TMB状态。

结果

ILC患者(n = 170)的TMB中位数评分为4.00突变/Mb(四分位间距,2.00 - 7.14突变/Mb),而IDC患者(n = 2598)的评分为3.90突变/Mb(2.00 - 6.00突变/Mb)。TMB-H在ILC患者中比在IDC患者中更常见(18.2%对10.1%,P < 0.001),特别是在ER + /HER2 - 亚型中。多变量分析显示,ILC的病理诊断(P = 0.006)、从转移部位采集的组织样本(P < 0.001)和年龄较大(≥50岁,P < 0.001)是TMB-H的独立因素。

结论

ILC患者比IDC患者更有可能出现TMB-H。本研究结果对于为ILC患者选择治疗策略具有重要价值。

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