Orbital Metastases from Breast Cancer with BRCA2 Mutation: A Case Report and Literature Review - PubMed (original) (raw)

Case Reports

. 2018 Jun 7;11(2):360-364.

doi: 10.1159/000489698. eCollection 2018 May-Aug.

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Case Reports

Orbital Metastases from Breast Cancer with BRCA2 Mutation: A Case Report and Literature Review

Emily Barber et al. Case Rep Oncol. 2018.

Abstract

Breast cancer is the second leading cause of cancer-related deaths in women in the United States. Of these women, 5-10% have an inherited form of breast cancer with a mutation in a major gene, such as the breast cancer susceptibility genes 1 or 2 (BRCA1 or BRCA2). Triple negative (the most common subtype of BRCA1-associated breast cancers) and Her2-positive breast cancer patients have more frequently been observed to develop central nervous system (CNS) metastases compared to other molecular subtypes of breast cancers. However, it remains an open question if BRCA2-associated breast cancers also have a higher propensity to develop CNS metastases. Here we report a rare case of recurrent BRCA2-associated breast cancer which manifested as orbital metastases. At the time of this publication, this is one of the first cases of BRCA2-associated breast cancer to present with orbital metastases. In this article, we discuss the diagnostic challenges and review the literature regarding this rare presentation.

Keywords: Breast cancer with BRCA2 mutation; Orbital metastases.

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Figures

Fig. 1.

Fig. 1.

MRI image of orbital metastases. T2 MRI image of the orbits shows a metastatic lesion to the left lateral rectus muscle (arrow) which responded to treatment. a MRI orbits before treatment. b MRI orbits after receiving 3 months of treatment.

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