Allina Health System, Virginia Piper Cancer Institute, Minneapolis, MN.
Hospital Pathology Associates, Allina Health Laboratories, Minneapolis, MN.
Clin Breast Cancer. 2021 Feb;21(1):47-56. doi: 10.1016/j.clbc.2020.07.003. Epub 2020 Jul 9.
Although breast cancer (BC) is uncommon in women age ≤ 35 years, women in this age group may have more aggressive cancer subtypes and high-risk pathogenic variants (HRPVs). Higher recurrence and mortality rates in young patients may be related to differences in tumor biology, pathologic mutation status, or treatment. The purpose of this study was to evaluate germline mutation status and other factors that affect recurrence-free survival (RFS) and overall survival (OS) in young women with BC.
This was a retrospective study of women diagnosed with BC at age ≤ 35 years at Allina Health System from 2000 through 2017 (n = 306). Information was collected on germline mutation status, tumor characteristics (grade, hormone receptor, and human epidermal growth factor receptor 2), molecular subtype, pregnancy-associated cancers, and treatment. Survival analyses using Kaplan-Meier curves were conducted for RFS and OS.
With mean follow-up of 6.5 years, OS was 87.0% for invasive cancers, RFS was 84.7%; 69% obtained genetic testing, and 26.9% had HRPVs. There were no differences in RFS or OS between patients with HRPV versus unknown/low/moderate risk variants. Recurrence analysis showed increased recurrence rates in luminal B-like cancers followed by triple negative and human epidermal growth factor receptor 2-positive cancers (P = .041). Pregnancy-associated BC diagnoses, angiolymphatic invasion, and tumor stage were associated with reduced OS. In spite of young age at diagnosis, nearly one-third of patients did not receive germline genetic testing.
Similar survival patterns were found between women with HRPV versus no known mutations. Luminal B-like subtype, pregnancy-associated BC, angiolymphatic invasion, and cancer stage were associated with reduced OS.
尽管乳腺癌（BC）在年龄≤35 岁的女性中不常见，但该年龄段的女性可能具有更具侵袭性的癌症亚型和高风险的致病性变异（HRPVs）。年轻患者的复发率和死亡率较高可能与肿瘤生物学、病理突变状态或治疗的差异有关。本研究的目的是评估年轻 BC 女性的种系突变状态和其他影响无复发生存（RFS）和总生存（OS）的因素。
这是一项回顾性研究，纳入 2000 年至 2017 年期间在 Allina Health System 被诊断为 BC 且年龄≤35 岁的女性（n=306）。收集了种系突变状态、肿瘤特征（分级、激素受体和人表皮生长因子受体 2）、分子亚型、妊娠相关癌症和治疗信息。采用 Kaplan-Meier 曲线进行生存分析，评估 RFS 和 OS。
平均随访 6.5 年后，浸润性癌症的 OS 为 87.0%，RFS 为 84.7%；69%的患者接受了基因检测，26.9%的患者存在 HRPVs。HRPV 与未知/低/中风险变异患者的 RFS 或 OS 无差异。复发分析显示，在 luminal B-like 型癌症后，三阴性和人表皮生长因子受体 2 阳性癌症的复发率更高（P=0.041）。妊娠相关 BC 诊断、血管淋巴管侵犯和肿瘤分期与 OS 降低相关。尽管诊断时年龄较小，但近三分之一的患者未接受种系基因检测。
HRPV 与无已知突变的女性患者的生存模式相似。luminal B-like 亚型、妊娠相关 BC、血管淋巴管侵犯和癌症分期与 OS 降低相关。
