The yield and effectiveness of breast cancer surveillance in women with PTEN Hamartoma Tumor Syndrome. Issue 15 (1st June 2022) - Hoxhaj, Alma
Abstract : Background: Women with PTEN Hamartoma Tumor Syndrome (PHTS) are offered breast cancer (BC) surveillance because of an increased BC lifetime risk. Surveillance guidelines are, however, expert opinion–based because of a lack of data. We aimed to assess the yield and effectiveness of BC surveillance and the prevalence and type of breast disease in women with PHTS. Methods: Sixty‐five women with PHTS who visited our center between 2001 and 2021 were included. Surveillance consisted of annual magnetic resonance imaging (MRI) and mammography from ages 25 and 30 years, respectively. Results: Thirty‐nine women enrolled in the BC surveillance program (median age at first examination, 38 years [range, 24–70]) and underwent 156 surveillance rounds. Surveillance led to detection of BC in 7/39 women (cancer detection rate [CDR], 45/1000 rounds) and benign breast lesions (BBLs) in 11/39 women. Overall sensitivity2 (which excludes prophylactic‐mastectomy detected BCs) was 100%, whereas sensitivity2 of mammography and MRI alone was 50% and 100%, respectively. Overall specificity was higher in follow‐up rounds (86%) versus first rounds (71%). Regardless of surveillance, 21/65 women developed 35 distinct BCs (median age at first diagnosis, 40 years [range, 24–59]) and 23/65 developed 89 BBLs (median age at first diagnosis, 38 years [range, 15–61]). Surveillance‐detected BCs were all T1 and N0, whereas outside surveillance‐detected BCs were more often ≥T2 (60%) and N+ (45%) ( p < .005). Conclusions: The findings show that annual BC surveillance with MRI starting at age 25 years enables detection of early‐stage BCs. Performance measures of surveillance and CDR were both high. BBLs were commonly present, underlining the importance of evaluation of all lesions independently. Abstract : In this retrospective cohort study, 65 women with PTEN Hamartoma Tumor Syndrome (PHTS) were included, of which 39 were enrolled in the breast cancer (BC) surveillance program and underwent annual breast magnetic resonance imaging and mammography. Performance measures of BC surveillance were adequate, the cancer detection rate was high (45/1000 rounds), and BCs detected during surveillance were more often early stage compared with BCs detected outside surveillance. BC surveillance in women with PHTS is effective because it contributes to the detection of early‐stage BCs. Lay summary: Breast cancer surveillance leads to decreased tumor stage and improved survival. Breast cancer surveillance with breast magnetic resonance imaging from age 25 years onward is recommended.