Metastatic breast cancer in patient with clinical neurofibromatosis type 1

Patients with neurofibromathosis have a high risk of associated cancers and specialized cancer screening guidelines¹. However for most of these cancer types early detection methods currently do not exist. For some cancer types, such as breast cancer, where screening is available, it is important to note that this patient group has increased risk of breast cancer and may present at an earlier age than general population.

Here, we describe a case of 48-year-old female with clinical diagnosis of neurofibromathosis type 1, who presented with skin color changes, itching and induration in left breast between multiple skin neurofibromas. She was diagnosed with stage IV HER2 positive breast cancer with hepatic and bilateral axillary lymph node metastasis, treated with chemotherapy and anti-HER2 antibodies. CT scan also described structural lung parenchyma alterations and scoliosis.

The aim of this case study is to emphasize the need of neurofibromathosis patient education in encouraging them to seek advice as soon as new symptoms appear and to prompt medical providers to use additional caution in this patient group.