Breast cancer in a patient with neurofibromatosis type 1 — analysis of the clinical case
Abstract
Neurofibromatosis type 1 (NF1), also called von Recklinghausen’s disease, is an autosomal dominant disorder, which is present in the population with a frequency of approx. 1:3000. One of the problems of medical care for patients with NF1 is a significantly increased risk of developing cancer (including breast cancer) compared to the general population. The NF1 gene product is a negative regulator of the RAS-MAPK pathway. Mutations in this gene may also be associated with some mutations in the BRCA1 gene. The aim of this study is to pay attention to the increased incidence of breast cancer in patients with NF1 and attempt to show the importance of constant oncological supervision in women with neurofibromatosis. The material for the analysis is the medical history of 41-year-old woman with NF1 and breast cancer diagnosed in 2012. In the control mammography performed in January 2012 the presence of atypical structure in the right breast, suspected of being malignant, was revealed. Needle aspiration biopsy indicated the presence of atypical cells. The tumour was removed. Pathological examination confirmed the malignant nature of the structure, and so the breast conserving therapy was extended and the right axillary lymph system was removed. The patient was qualified for adjuvant chemotherapy based on anthracyclines and radiotherapy.
Detection of breast cancer in patients with NF1 can be difficult because skin changes can mask symptoms of the tumour and the patient can treat new changes in the breast as a manifestation of NF1. Therefore, it is recommended to pay constant, increased oncological attention to patients with NF1.
Keywords: NF1 geneneurofibromatosis type 1von Recklinghausen’s diseasebreast cancerphakomatoses
References
- Karwacki MW, Woźniak W. Neurofibromatosis--an inborn genetic disorder with susceptibility to neoplasia. Med Wieku Rozwoj. 2006; 10(3 Pt 2): 923–948.
- Walker R. Editorial. Cambridge Journal of Education. 2004; 34(2): 139–142.
- Bieniek A, Kuczborska I, Młynarczyk A, et al. The present view on pathogenesis, classification and treatment of neurofibromatosis. Dermatologia Kliniczna. 2006; 8: 181–187.
- Sałamacha M, Koseła H, Falkowski S, et al. Von Recklinghausen disease (neurofibromatosis type 1) — the most common hereditary syndrome associated with soft tissue sarcomas. Nowotwory J Oncol. 2001; 61: 43–51.
- Brems H, Beert E, de Ravel T, et al. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol. 2009; 10(5): 508–515.
- Khalil J, Afif M, Elkacemi H, et al. Breast cancer associated with neurofibromatosis type 1: a case series and review of the literature. J Med Case Rep. 2015; 9: 61.
- Widemann BC, Dombi E, Gillespie A, et al. American College of Physicians, American Physiological Society. Neuroimaging in children with neurofibromatosis type 1. J Pediatr. 1993; 122(5 Pt 1): 834–835.
- Laycock-van Spyk S, Thomas N, Cooper DN, et al. Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. Hum Genomics. 2011; 5(6): 623–690.
- Salemis NS, Nakos G, Sambaziotis D, et al. Breast cancer associated with type 1 neurofibromatosis. Breast Cancer. 2010; 17(4): 306–309.
- Alamsamimi M, Mirkheshti N, Mohajery MR, et al. Bilateral invasive ductal carcinoma in a woman with neurofibromatosis type 1. Arch Iran Med. 2009; 12(4): 412–414.
- Jeon YeW, Kim RaMi, Lim ST, et al. Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1. J Breast Cancer. 2015; 18(1): 97–100.
- Wang X, Levin AM, Smolinski SE, et al. Breast cancer and other neoplasms in women with neurofibromatosis type 1: a retrospective review of cases in the Detroit metropolitan area. Am J Med Genet A. 2012; 158A(12): 3061–3064.
- Madanikia SA, Bergner A, Ye X, et al. Increased risk of breast cancer in women with NF1. Am J Med Genet A. 2012; 158A(12): 3056–3060.
- Evans DG. Are we ready for targeted early breast cancer detection strategies in women with NF1 aged 30-49 years? Am J Med Genet A. 2012; 158A(12): 3054–3055.
- Sharif S, Moran A, Huson SM, et al. Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet. 2007; 44(8): 481–484.