(1) Background/Objectives: Women withPTENhamartoma tumor syndrome (PHTS) face a significantly increased risk of breast cancer (up to 66%) and a high prevalence of benign breast lesions (30–75%), which can complicate cancer detection and underscore the need for effective surveillance strategies. This study aimed to evaluate the imaging characteristics of breast cancers and benign breast lesions using magnetic resonance imaging (MRI) and mammography, with the goal of improving early cancer detection, reducing unnecessary biopsies, and guiding future surveillance protocols. (2) Methods: This retrospective single-institution study included 65 PHTS women aged ≥18 years (2001–2021), 39 of whom participated in a high-risk breast cancer surveillance program. Imaging features of breast cancers from MRI and mammography (when available) and of benign breast lesions from MRI only were assessed independently by two breast radiologists and correlated with pathology reports. Sensitivity and performance of MRI and mammography in detecting breast cancers and benign breast lesions were analyzed using descriptive statistics and correlation analyses, with significance set atp< 0.05. (3) Results: Imaging was available for re-evaluation for 17 breast cancers (with MRI available for 10 cases and mammography for 15 cases) diagnosed in 11 women and 31 benign breast lesions (with MRI available for 29 cases and mammography for 26 cases) in 16 women. MRI identified 90% (9/10) of the breast cancers for which it was available as suspicious, with malignant features retrospectively identifiable in 50% of baseline scans. In comparison, mammography identified only 40% (6/15) of breast cancers and was notably less effective in women with dense breast tissue. For benign breast lesions, MRI identified all lesions (29/29), while mammography underperformed, correctly identifying only 58% (15/26). However, ambiguous enhancement features on MRI occasionally posed challenges in distinguishing between benign breast lesions and malignancies. (4) Conclusions: MRI significantly outperformed mammography in accurately characterizing both breast cancers and benign breast lesions in women with PHTS, particularly in younger women with dense breast tissue. These findings reinforce the critical role of MRI as the primary surveillance tool for this high-risk population, given that breast cancers in women with PHTS tend to exhibit typical malignant features on MRI. However, they also highlight the importance of careful interpretation of MRI findings for benign breast lesions and the need for additional strategies to minimize unnecessary interventions.
（1）背景/目的：携带PTEN错构瘤肿瘤综合征（PHTS）的女性面临显著增加的乳腺癌风险（高达66%），且良性乳腺病变发生率较高（30%-75%），这可能增加癌症检测的复杂性，凸显了制定有效监测策略的必要性。本研究旨在通过磁共振成像（MRI）和乳腺X线摄影评估乳腺癌及良性乳腺病变的影像学特征，以提升早期癌症检出率、减少不必要的活检，并为未来监测方案提供依据。（2）方法：这项回顾性单中心研究纳入了65名年龄≥18岁的PHTS女性（2001-2021年），其中39人参与了高风险乳腺癌监测项目。由两名乳腺放射科医师独立评估MRI（及可用的乳腺X线摄影）显示的乳腺癌影像特征，以及仅通过MRI评估的良性乳腺病变特征，并与病理报告进行关联分析。采用描述性统计和相关分析评估MRI与乳腺X线摄影在检测乳腺癌及良性乳腺病变中的敏感性与效能，显著性水平设定为p<0.05。（3）结果：共对11名女性的17例乳腺癌（其中10例有MRI数据，15例有乳腺X线摄影数据）及16名女性的31例良性乳腺病变（其中29例有MRI数据，26例有乳腺X线摄影数据）进行了影像学再评估。MRI将90%（9/10）的乳腺癌判定为可疑病灶，其中50%的基线扫描可回溯识别恶性特征。相比之下，乳腺X线摄影仅检出40%（6/15）的乳腺癌，在致密型乳腺女性中效果尤为有限。对于良性乳腺病变，MRI检出全部病灶（29/29），而乳腺X线摄影仅正确识别58%（15/26）。然而，MRI中不明确的强化特征有时对区分良性病变与恶性肿瘤造成困难。（4）结论：在PHTS女性中，MRI对乳腺癌和良性乳腺病变的准确表征能力显著优于乳腺X线摄影，尤其对于伴有致密型乳腺的年轻女性。鉴于PHTS女性的乳腺癌在MRI上多呈现典型恶性特征，本研究进一步确立了MRI作为该高风险人群主要监测工具的关键作用。但结果也提示，需谨慎解读良性乳腺病变的MRI表现，并制定补充策略以最大限度减少不必要的干预。
肿瘤(癌症)患者之家