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

Abstract

BackgroundNeurofibromatosis 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 presentationIn 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.ConclusionsBest 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.

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

“…Multiple case reports have described delays in breast-cancer diagnosis due to cutaneous and breast neurofibromas that impair palpation of a concerning mass and the interpretation of mammography. 41 The difficulty of imaging interpretation may contribute to the higher mortality observed in NF1-associated breast cancer. 4,14 The threshold at which risk-reducing mastectomy should be considered in an at-risk but unaffected woman with NF1 is unknown.…”

Surgical dilemma of the management of breast cancer in a patient with neurofibromatosis: case report and a review of the literature

“…There may be a delay in presentation due to difficulty in differentiating underlying neurofibromas and a sinister breast mass. Similarly, the presence of multiple cutaneous neurofibromas with coexisting breast cancer may make interpretation of mammography particularly challenging [ 8 ].…”

Neurofibromatosis Type 1 with the Development of Pheochromocytoma and Breast Cancer

“…Among patients with neurofibromatosis who develop breast cancer, breast cancer is often discovered at a later stage in patients under 50 years of age and it is therefore important to encourage this population of patients with neurofibromatosis to undergo periodic checkups with earlier screenings than the general population (25). In addition, since it is difficult for patients with several cutaneous neurofibromas to palpate breast masses in a self-exam, these patients should be classified as a high-risk group and should be encouraged to undergo breast ultrasonography or breast MRI early in life (18,26).…”