Breast cancer associated with neurofibromatosis type 1: a case series and review of the literature

Abstract

IntroductionNeurofibromatosis type 1, also known as Von Recklinghausen’s disease, is a rare neuroectodermal disease that mainly affects the skin and the nervous system. Patients with neurofibromatosis type 1 have a higher risk of developing various types of cancers, especially tumors derived from the embryogenic neural crest. However, its association with breast cancer has seldom been reported.Case presentationWe report the cases of three white Arabic women diagnosed with neurofibromatosis type 1, with a median age of 40-years-old (range: 39 to 43), who sought treatment at our centre for breast cancer.ConclusionsThe association between neurofibromatosis type 1 and breast cancer is uncommon. In our case series we readdress this association through a literature review.

Neurofibromatosis Type 1 – Association with Breast Cancer, Basal Cell Carcinoma of the Skin, and Low-Grade Peripheral Nerve Sheath Sarcoma: Case Report and Literature Review

“…Breast cancer was more often estrogen receptor negative and progestogen receptor negative [7]. Also, these patients had more extensive local compromise [1, 7, 10]. These findings were also present in our patient.…”

“…It is an autosomal dominant disorder that affects 1 in 3,000 individuals. This condition has high penetrance and a wide variability in expression [1]. In the skin, the predominant lesions are café-au-lait spots and multiple neurofibromas [2].…”

Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity

“…The most commonly reported NF1-specific malignancies are intracranial gliomas and malignant peripheral nerve sheath tumors. Additional, common NF1-related cancers include breast, mouth or pharynx, thyroid, and eye tumors ( Zöller et al 1997 ; Sharif et al 2007 ; Salemis et al 2010 ; Madanikia et al 2012 ; Khalil et al 2015 ; Uusitalo et al 2017 ). Gastrointestinal stromal tumors and pheochromocytomas also have been associated with NF1 ( Walther et al 1999 ; Maertens et al 2006 ).…”

Association between Neurofibromatosis Type 1 and Breast Cancer: A Report of Two Cases with a Review of the Literature

“…The first report of an association between NF1 and breast cancer was published in 1972 [ 8 ], and subsequently several clinical cases of NF1 patients with breast cancer have been reported in the literature. We reviewed the English literature and have summarized all the reports of breast cancer in NF1 patients in Table 1 [ 3 – 38 ]. There were 29 cases of breast cancer in NF1 patients and six studies about the association between breast cancer and NF1.…”