The yield and effectiveness of breast cancer surveillance in women with PTEN Hamartoma Tumor Syndrome

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 sensitivity(2) (which excludes prophylactic-mastectomy detected BCs) was 100%, whereas sensitivity(2) 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.

Automated summary

This study evaluated the effectiveness and yield of breast cancer (BC) surveillance in women with PTEN Hamartoma Tumor Syndrome (PHTS), as well as the prevalence and type of breast disease in this population. The results showed that annual MRI surveillance starting at age 25 enables the detection of early-stage BCs, with high performance measures and cancer detection rate.