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

被引：20

作者：

Da Silva, Andre Vallejo ^{[1
,3
]}

Rodrigues, Fabiana Resende ^{[2
,3
]}

Pureza, Monica ^{[2
]}

Silami Lopes, Vania Gloria ^{[2
,3
]}

Cunha, Karin Soares ^{[3
]}

机构：

[1] Univ Fed Fluminense, Hosp Univ Antonio Pedro, Breast Surg Serv, Rio De Janeiro, Brazil

[2] Univ Fed Fluminense, Hosp Univ Antonio Pedro, Pathol Serv, Rio De Janeiro, Brazil

[3] Univ Fed Fluminense, Sch Med, Postgrad Program Pathol, Rio De Janeiro, Brazil

来源：

BMC CANCER | 2015年 / 15卷

关键词：

Neurofibromatosis; 1; Genetic diseases; Breast cancer; Neurofibroma; Secondary prevention; VON-RECKLINGHAUSENS-DISEASE; INCREASED RISK; NF1; ISOFORM; WOMEN;

D O I：

10.1186/s12885-015-1215-z

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

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.

引用

页数：4

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