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Case Reports
. 2015 Mar 26:15:183.
doi: 10.1186/s12885-015-1215-z.

Breast cancer and neurofibromatosis type 1: a diagnostic challenge in patients with a high number of neurofibromas

André Vallejo Da Silva  1   2 , Fabiana Resende Rodrigues  3   4 , Mônica Pureza  5 , Vania Gloria Silami Lopes  6   7 , Karin Soares Cunha  8
Affiliations
Case Reports

Breast cancer and neurofibromatosis type 1: a diagnostic challenge in patients with a high number of neurofibromas

André Vallejo Da Silva et al. BMC Cancer. .

Abstract

Background: Neurofibromatosis 1 is one of the most common genetic diseases in humans, presenting with multiple neurofibromas and an increased risk of various benign and malignant tumors, including breast cancer.

Case presentation: In this paper we report a case of a woman with neurofibromatosis 1 and the challenge associated with detecting an advanced breast cancer because of numerous skin neurofibromas, which were responsible for a substantial delay in cancer diagnosis. Literature concerning the association of neurofibromatosis 1 and breast cancer is reviewed and discussed.

Conclusions: Best practice guidelines for breast cancer detection are not sufficient for the screening of neurofibromatosis 1 carriers. A more intensive clinical and imaging approach should be used if the same early detection rate as in non-neurofibromatosis 1 women is to be achieved.

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Figures

Figure 1
Figure 1
Clinical aspect of the patient before mastectomy. Photograph showing the high number of skin neurofibromas. Note that the left breast is enlarged.
Figure 2
Figure 2
Radiological aspect of the digital mammogram before surgery. Mammogram illustrating the difficulty in identifying the tumor mass due to the high number of skin neurofibromas.
See this image and copyright information in PMC

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