Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1

• Published in: Familial cancer Vol. 22; no. 4; pp. 499 - 511
• Main Authors: Wilding, Mathilda, Fleming, Jane, Moore, Katrina, Crook, Ashley, Reddy, Ranjani, Choi, Sarah, Schlub, Timothy E., Field, Michael, Thiyagarajan, Lavvina, Thompson, Jeff, Berman, Yemima
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01.10.2023; Springer Nature B.V
• Subjects: Biomedical and Life Sciences; Biomedicine; Biopsy; Breast cancer; Cancer Research; Epidemiology; Genetic disorders; Human Genetics; Magnetic resonance imaging; Mammography; Neurofibromatosis; Neurological disorders; Original Article; Recklinghausen's disease; Risk factors; Tumors; BI-RADS lesions; Mammogram; Breast density; MRI; Neurofibromatosis; Breast cancer screening
• DOI: 10.1007/s10689-023-00340-5
• ISSN: 1389-9600

Young women with Neurofibromatosis type 1 (NF1) have a high risk of developing breast cancer and poorer survival following breast cancer diagnosis. International guidelines recommend commencing breast screening between 30 and 35 years; however, the optimal screening modality is unestablished, and previous reports suggest that breast imaging may be complicated by the presence of intramammary and cutaneous neurofibromas (cNFs). The aim of this study was to explore potential barriers to implementation of breast screening for young women with NF1. Twenty-seven women (30–47 years) with NF1 completed breast screening with breast MRI, mammogram and breast ultrasound. Nineteen probably benign/suspicious lesions were detected across 14 women. Despite the presence of breast cNFs, initial biopsy rate for participants with NF1 (37%), were comparable to a BRCA pathogenic variant (PV) cohort (25%) (P = 0.311). No cancers or intramammary neurofibromas were identified. Most participants (89%) returned for second round screening. The presence of cNF did not affect clinician confidence in 3D mammogram interpretation, although increasing breast density, frequently seen in young women, impeded confidence for 2D and 3D mammogram. Moderate or marked background parenchymal enhancement on MRI was higher in the NF1 cohort (70.4%) than BRCA PV carriers (47.3%), which is an independent risk factor for breast cancer. Breast MRI was the preferred mode of screening over mammogram, as the majority (85%) with NF1 demonstrated breast density (BI-RADS 3C/4D), which hinders mammogram interpretation. For those with high breast density and high cNF breast coverage, 3D rather than 2D mammogram is preferred, if MRI is unavailable.