Humlevik Rasmus O C, Svanøe Amalie A, Aas Turid, Heie Anette, Sæle Anna K M, Akslen Lars A, Wik Elisabeth, Hoivik Erling A
Centre for Cancer Biomarkers CCBIO, Department of Clinical Medicine, University of, Bergen, Haukeland University Hospital, N-5021, Bergen, Norway.
Department of Pathology, Haukeland University Hospital, Bergen, Norway.
Sci Rep. 2025 Feb 15;15(1):5655. doi: 10.1038/s41598-025-90053-9.
The incidence of breast cancer in young women (aged under 40) is on the rise and is associated with more aggressive tumor characteristics and lower survival rates. Breast cancer is most frequently diagnosed in the sixth decade, and most research presents results based on data from older patients. By using large-scale clinico-pathologic and transcriptomic data from the Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) (n = 1932), we aimed to explore age-related differences in treatment, tumor characteristics, and gene expression signatures. Young patients presented more aggressive clinico-pathologic features such as higher histological grade, more frequent lymph node metastasis involvement, and estrogen receptor negativity. Accordingly, age below 40 years was associated with lower mRNA expression of the estrogen- and progesterone receptors, encoded by ESR1 and PGR, a higher proportion of the basal-like subtype, and increased transcription patterns reflecting stemness. Young breast cancer patients showed reduced survival, also within the basal-like subtype. We observed age-related differences in treatment, with more patients receiving chemotherapy among the young. Our results confirm a more challenging disease in young patients with breast cancer despite the more abundant use of chemotherapy. This argues for increased attention to young patients in current management and future research in breast cancer.
年轻女性（40岁以下）乳腺癌的发病率呈上升趋势，且与更具侵袭性的肿瘤特征和更低的生存率相关。乳腺癌最常于60岁左右被诊断出来，大多数研究呈现的结果是基于老年患者的数据。通过使用来自国际乳腺癌分子分类联盟（METABRIC）的大规模临床病理和转录组数据（n = 1932），我们旨在探究治疗、肿瘤特征和基因表达特征方面与年龄相关的差异。年轻患者呈现出更具侵袭性的临床病理特征，如更高的组织学分级、更频繁的淋巴结转移累及以及雌激素受体阴性。相应地，40岁以下与雌激素受体（由ESR1编码）和孕激素受体（由PGR编码）的mRNA表达降低、基底样亚型比例更高以及反映干性的转录模式增加相关。年轻乳腺癌患者的生存率降低，在基底样亚型中也是如此。我们观察到治疗方面与年龄相关的差异，年轻患者中接受化疗的更多。我们的结果证实，尽管化疗使用更为广泛，但年轻乳腺癌患者面临的疾病更具挑战性。这表明在当前乳腺癌管理和未来研究中应更加关注年轻患者。
