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

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Abstract

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.

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Acknowledgements

We would like to thank the patients and clinicians who gave their time and supported this study. In addition, we wish to thank Dr Rachel O’Connell for providing statistical support for the analysis of our early findings.

Funding

This study was funded by the Children’s Tumour Foundation and The Honourable Brad Hazzard, NSW Minister for Health and Medical Research.

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Authors and Affiliations

  1. NSLHD Familial Cancer Service, Department of Cancer Services, Royal North Shore Hospital, Sydney, NSW, Australia

    Mathilda Wilding, Ashley Crook & Michael Field

  2. Department of Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia

    Jane Fleming, Lavvina Thiyagarajan & Yemima Berman

  3. Department of Endocrine Surgery, Royal North Shore Hospital, Sydney, NSW, Australia

    Katrina Moore

  4. North Shore Radiology & Nuclear Medicine, Pacific Highway, Sydney, NSW, Australia

    Ranjani Reddy & Sarah Choi

  5. Sydney School of Public Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia

    Timothy E. Schlub

  6. Northern Clinical School, Faculty of Health and Medicine, University of Sydney, Sydney, NSW, Australia

    Jeff Thompson

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  1. Mathilda Wilding
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Contributions

All authors contributed to the study conception, design, material preparation, data collection and analysis. The first draft of the manuscript was written by Mathilda Wilding and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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Correspondence to Mathilda Wilding.

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The authors declare no competing interests.

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The study was performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards. This study was approved by the Northern Sydney Local Health District Human Research Ethics Committee (NSLHD HREC) REGIS 2020/ ETH00762.

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Wilding, M., Fleming, J., Moore, K. et al. Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1. Familial Cancer 22, 499–511 (2023). https://doi.org/10.1007/s10689-023-00340-5

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