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

BMC Cancer. 2015 Mar 26:15:183. doi: 10.1186/s12885-015-1215-z.

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.

Publication types

  • Case Reports

MeSH terms

  • Breast Neoplasms / complications
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / drug therapy
  • Breast Neoplasms / pathology*
  • Breast Neoplasms / surgery
  • Combined Modality Therapy
  • Female
  • Humans
  • Mastectomy
  • Middle Aged
  • Neurofibromatoses / complications
  • Neurofibromatoses / diagnosis
  • Neurofibromatoses / drug therapy
  • Neurofibromatoses / pathology*
  • Neurofibromatosis 1 / complications
  • Neurofibromatosis 1 / diagnosis
  • Neurofibromatosis 1 / drug therapy
  • Neurofibromatosis 1 / pathology*
  • Risk
  • Skin / pathology