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

BMC Cancer

Karin Soares Cunha¹  Vania Gloria Silami Lopes¹  Mônica Pureza²  Fabiana Resende Rodrigues¹  André Vallejo Da Silva¹ 

[1]Postgraduate Program in Pathology, School of Medicine, Universidade Federal Fluminense, Niterói, Rio de Janeiro, Brazil

[2]Pathology Service, Hospital Universitário Antônio Pedro, Universidade Federal Fluminense, Niterói, Rio de Janeiro, Brazil

关键词: Secondary prevention;    Neurofibroma;    Breast cancer;    Genetic diseases;    Neurofibromatosis 1;   

Others  :  1161245
DOI  :  10.1186/s12885-015-1215-z

 received in 2014-09-16, accepted in 2015-03-18,  发布年份 2015

【 摘 要 】

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.

【 授权许可】

   
2015 Silva et al.; licensee BioMed Central.

【 图 表 】

Figure 1.

Figure 2.

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