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

Wilding, M; Fleming, J; Moore, K; Crook, A; Reddy, R; Choi, S; Schlub, TE; Field, M; Thiyagarajan, L; Thompson, J; Berman, Y

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

Wilding, M Fleming, J Moore, K Crook, A

Reddy, R Choi, S Schlub, TE Field, M Thiyagarajan, L Thompson, J Berman, Y

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Publisher:: SPRINGER
Publication Type:: Journal Article
Citation:: Fam Cancer, 2023, 22, (4), pp. 499-511
Issue Date:: 2023-10

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Field	Value	Language
dc.contributor.author	Wilding, M
dc.contributor.author	Fleming, J
dc.contributor.author	Moore, K
dc.contributor.author	Crook, A https://orcid.org/0000-0001-5578-0460
dc.contributor.author	Reddy, R
dc.contributor.author	Choi, S
dc.contributor.author	Schlub, TE
dc.contributor.author	Field, M
dc.contributor.author	Thiyagarajan, L
dc.contributor.author	Thompson, J
dc.contributor.author	Berman, Y
dc.date.accessioned	2023-10-10T03:03:39Z
dc.date.available	2023-05-28
dc.date.available	2023-10-10T03:03:39Z
dc.date.issued	2023-10
dc.identifier.citation	Fam Cancer, 2023, 22, (4), pp. 499-511
dc.identifier.issn	1389-9600
dc.identifier.issn	1573-7292
dc.identifier.uri	http://hdl.handle.net/10453/172617
dc.description.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.
dc.format	Print-Electronic
dc.language	eng
dc.publisher	SPRINGER
dc.relation.ispartof	Fam Cancer
dc.relation.isbasedon	10.1007/s10689-023-00340-5
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject	1112 Oncology and Carcinogenesis
dc.subject.classification	Oncology & Carcinogenesis
dc.subject.classification	3211 Oncology and carcinogenesis
dc.subject.mesh	Female
dc.subject.mesh	Humans
dc.subject.mesh	Neurofibromatosis 1
dc.subject.mesh	Retrospective Studies
dc.subject.mesh	Breast
dc.subject.mesh	Breast Neoplasms
dc.subject.mesh	Mammography
dc.subject.mesh	Magnetic Resonance Imaging
dc.subject.mesh	Breast
dc.subject.mesh	Humans
dc.subject.mesh	Neurofibromatosis 1
dc.subject.mesh	Breast Neoplasms
dc.subject.mesh	Magnetic Resonance Imaging
dc.subject.mesh	Mammography
dc.subject.mesh	Retrospective Studies
dc.subject.mesh	Female
dc.title	Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1.
dc.type	Journal Article
utslib.citation.volume	22
utslib.location.activity	Netherlands
utslib.for	1112 Oncology and Carcinogenesis
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Faculty of Health
utslib.copyright.status	closed_access	*
dc.date.updated	2023-10-10T03:03:38Z
pubs.issue	4
pubs.publication-status	Published
pubs.volume	22
utslib.citation.issue	4

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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http://hdl.handle.net/10453/172617