Abstract
Introduction
Women with neurofibromatosis type 1 (NF1) have up to a 5-fold increased risk for breast
cancer before age 50 and a 3.5-fold increased risk of breast cancer overall. The purpose
of our study was to assess breast cancer screening utilization and outcomes in this
population.
Patients and Methods
This IRB approved HIPAA compliant study retrospectively assessed consecutive NF1 patients
(January 2012-December 2021) with recorded clinical visits and/or breast imaging.
Patient demographics, risk factors, and screening mammogram and breast magnetic resonance
imaging (MRI) outcomes were recorded. Descriptive statistics were obtained and standard
breast screening measures were calculated.
Results
One hundred and eleven women (median age 43, range 30-82) were eligible for screening
based on current NCCN guidelines. A total of 86% (95/111) of all patients and 80%
(24/30) of patients under age 40 had at least 1 mammogram. In contrast, 28% (31/111)
of all patients and 33% (25/76) of patients ages 30 to 50 had at least 1 screening
MRI. Of 368 screening mammograms performed, 38 of 368 (10%) resulted in the recall,
and 22 of 368 (6%) resulted in a biopsy. Of 48 screening MRIs performed, 19 of 48
(40%) short-term follow-ups and 12 of 48 (25%) biopsies were recommended. All 6 screen-detected
cancers in our cohort were detected initially on screening mammograms.
Conclusion
Results confirm the utility and performance of screening mammography in the NF1 population.
The low utilization of MRI in our cohort limits the evaluation of outcomes via this
modality and suggests there may be an education or interest gap among referrers and
patients regarding supplemental screening recommendations.
Keywords
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Article info
Publication history
Published online: February 12, 2023
Accepted:
February 8,
2023
Received in revised form:
January 21,
2023
Received:
November 17,
2022
Publication stage
In Press Journal Pre-ProofIdentification
Copyright
© 2023 Elsevier Inc. All rights reserved.
