Enhancing breast cancer detection in PTEN Hamartoma Tumor Syndrome through insights into MRI and mammography lesion features

Abstract

Women with PTEN Hamartoma Tumor Syndrome (PHTS) have an increased breast cancer (BC) risk (up to 66%) and a relatively high prevalence of benign breast lesions (BBLs) (30–75%), necessitating annual MRI and mammography surveillance. This study aimed to describe BCs and BBLs imaging features in PHTS women to improve early BC detection. This retrospective study at Radboudumc (2001–2021) involved 65 PHTS women aged ≥ 18. Of these, 39 participated in a high-risk BC surveillance program. Breast lesion features at MRI and mammography (when available) examinations were described by two breast radiologists. Pathology reports were retrieved to assess the nature of the biopsied findings. Statistical analysis included descriptive statistics and correlation analyses, with significance set at P < 0.05. Twenty-one women were diagnosed with 35 BCs. For 11 women (52%), who were diagnosed with 17 BCs (49%), imaging examinations were available for re-reading. Of these 17 BCs, 12 (70%) were invasive. MRI examinations were available for re-reading for 10 BCs, with MRI detecting 9 of these (sensitivity 90%). The BCs identified by MRI primarily exhibited malignant features. Notably, up to 50% of BCs were visible in baseline MRI examinations. Mammography examinations were available for re-reading for 15 BCs, with mammography detecting 6 of these (sensitivity 40%). Eighty-nine BBLs were diagnosed in 23 women. Imaging examinations were available for re-reading for 31 BBLs in 16 women. MRI detected 29 (100%) out of 29 available BBLs cases, while mammography detected 15 (58%) out of 26 BBLs available cases. On MRI, BBLs often showed ambiguous enhancement features. In our study, MRI identified BCs mostly exhibited malignant features, while mammography often missed cancers. On MRI, most BCs were already visible at baseline examinations, and BBLs showed ambiguous enhancement features. These findings highlight the critical role of thorough MRI evaluation in the detection of BCs in PHTS women.