Document Type : Case Report(s)

Authors

• Wai Yee Chan ¹
• Marlina Tanty Ramli Hamid ²
• Caroline Judy Westerhout ¹
• Tan Ling Tze ¹
• Jayalakshmi Pailoor ³
• Kartini Rahmat ¹

¹ Department of Biomedical Imaging, University Malaya Research Imaging Center, University of Malaya, Kuala Lumpur, Malaysia

² Department of Radiology, Faculty of Medicine, University Teknologi MARA, Sungai Buloh Campus, Selangor, Malaysia

³ Department of Pathology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia

Abstract

With a prevalence of approximately 1 out of 2,500 to 4,000 births, neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease, is one of the most prevalent autosomal dominant diseases in humans. There is four to five-fold increased risk of malignancy in these patients due to the presence of NF1 gene mutation, which is a tumour suppressor inhibiting RAS activation. NF1 is known to be closely associated with central nervous system (CNS) tumours; however, its association with other non-CNS malignancies is not uncommon. Mutation of BRCA1 (breast cancer 1, early onset) and BRCA2 (breast cancer 2, susceptibility protein) genes has long been recognized as an important risk factor for the develpoment of breast cancer. Incidentally, BRCA1 and NF1 genes are both located in the long arm of chromosome 17. The association between NF1 and breast cancer has long been debated; recent studies, on the other hand, have established this association, with NF1 unequivocally identified as breast cancer susceptibility gene conferring a moderate risk of breast cancer development. In this report, we described multimodality imaging features of breast cancer in two women with NF1; we further reviewed the literatures on the association between NF1 and breast cancer and its diagnostic challenge.

Keywords

• Neurofibromatosis type 1
• Breast cancer
• Risk factor
• MRI