Long-term results of screening with magnetic resonance imaging in women with BRCA mutations.

BACKGROUND: The addition of breast magnetic resonance imaging (MRI) to screening mammography for women with BRCA mutations significantly increases sensitivity, but there is little data on clinical outcomes. We report screening performance, cancer stage, distant recurrence rate, and breast cancer-specific mortality in our screening study. METHODS: From 1997 to 2009, 496 women aged 25 to 65 years with a known BRCA1/2 mutation, of whom 380 had no previous cancer history, were enrolled in a prospective screening trial that included annual MRI and mammography. RESULTS: In 1847 screening rounds, 57 cancers were identified (53 screen-detected, 1 interval, and 3 incidental at prophylactic mastectomy), of which 37 (65%) were invasive. Sensitivity of MRI vs mammography was 86% vs 19% over the entire study period (P<0.0001), but was 74% vs 35% from 1997 to 2002 (P=0.02) and 94% vs 9% from 2003 to 2009 (P<0.0001), respectively. The relative sensitivities of MRI and mammography did not differ by mutation, age, or invasive vs non-invasive disease. Of the incident cancers, 97% were Stage 0 or 1. Of 28 previously unaffected women diagnosed with invasive cancer, 1 BRCA1 mutation carrier died following relapse of a 3 cm, node-positive breast cancer diagnosed on her first screen at age 48 (annual breast cancer mortality rate=0.5%). Three patients died of other causes. None of the 24 survivors has had a distant recurrence at a median follow-up of 8.4 years since diagnosis. CONCLUSION: Magnetic resonance imaging surveillance of women with BRCA1/2 mutations will detect the majority of breast cancers at a very early stage. The absence of distant recurrences of incident cancers to date is encouraging. However, longer follow-up is needed to confirm the safety of breast surveillance.

Can breast MRI computer-aided detection (CAD) improve radiologist accuracy for lesions detected at MRI screening and recommended for biopsy in a high-risk population?

AIM: To evaluate the sensitivity and specificity of magnetic resonance imaging (MRI) computer-aided detection (CAD) for breast MRI screen-detected lesions recommended for biopsy in a high-risk population. MATERIAL AND METHODS: Fifty-six consecutive Breast Imaging Reporting and Data System (BI-RADS) 3-5 lesions with histopathological correlation [nine invasive cancers, 13 ductal carcinoma in situ (DCIS) and 34 benign] were retrospectively evaluated using a breast MRI CAD prototype (CAD-Gaea). CAD evaluation was performed separately and in consensus by two radiologists specializing in breast imaging, blinded to the histopathology. Thresholds of 50, 80, and 100% and delayed enhancement were independently assessed with CAD. Lesions were rated as malignant or benign according to threshold and delayed enhancement only and in combination. Sensitivities, specificities, and negative predictive values (NPV) were determined for CAD assessments versus pathology. Initial MRI BI-RADS interpretation without CAD versus CAD assessments were compared using paired binary diagnostic tests. RESULTS: Threshold levels for lesion enhancement were: 50% to include all malignant (and all benign) lesions; and 100% for all invasive cancer and high-grade DCIS. Combined use of threshold and enhancement patterns for CAD assessment was best (73% sensitivity, 56% specificity and 76% NPV for all cancer). Sensitivities and NPV were better for invasive cancer (100%/100%) than for all malignancies (54%/76%). Radiologists' MRI interpretation was more sensitive than CAD (p=0.05), but less specific (p=0.001) for cancer detection. CONCLUSION: The breast MRI CAD system used could not improve the radiologists' accuracy for distinguishing all malignant from benign lesions, due to the poor sensitivity for DCIS detection.