Autoantibodies directed to centromere protein F in a patient with BRCA1 gene mutation

Fiona Moghaddas,Marvin J Fritzler,Ban Hock Toh,Roberta Taylor,Fredrick Joshua

doi:10.1186/s13104-016-1908-7

Fiona Moghaddas, Marvin J Fritzler + Show 3 more

Open Access

https://doi.org/10.1186/s13104-016-1908-7

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Abstract

BackgroundAutoantibodies directed to centromere protein F were first reported in 1993 and their association with malignancy has been well documented.CaseWe present the case of a 48-year-old Caucasian female with a BRCA1 gene mutation associated with bilateral breast cancer. Antinuclear autoantibody immunofluorescence performed for workup of possible inflammatory arthropathy showed a high titre cell cycle related nuclear speckled pattern, with subsequent confirmation by addressable laser bead immunoassay of the target antigen as an immunodominant epitope at the C-terminus of centromere protein F.ConclusionHere we review the current literature on centromere protein F, its association with breast cancer and present the first case of this antibody being identified in a person with a BRCA1 gene mutation.

Highlights

Autoantibodies directed to centromere protein F were first reported in 1993 and their association with malignancy has been well documented.Case: We present the case of a 48-year-old Caucasian female with a breast cancer 1 (BRCA1) gene mutation associated with bilateral breast cancer
Centromere protein-F (CENP-F), known at mitosin, is a ~400 kDa nuclear protein encoded by gene 1q32–41 that associates with the centromere kinetochore complex [1, 2]
The expression of CENP-F in malignancies has been investigated over the past decade, with increased immunohistochemical expression of CENP-F reported in breast, lung, ovarian and cervical cancer, non-Hodgkin

Summary

Background

Centromere protein-F (CENP-F), known at mitosin, is a ~400 kDa nuclear protein encoded by gene 1q32–41 that associates with the centromere kinetochore complex [1, 2]. An antinuclear antibody (ANA) performed at this time was reported as positive at a titre of 1:1280 with a speckled pattern, but This specificity, the sample was sent to the Mitogen Advanced Diagnostics Laboratory at the University of Calgary where an ALBIA was developed for this purpose using protocols as previously described [28]. This process involved covalent coupling CENP-F peptides F1 and F4 to separate dye laden addressable microbeads and pipetting both into a single microtiter well, with the subsequent addition of both serum and fluorochrome-coupled secondary antibody. She was noted to have lymphadenopathy in the contralateral axillae that was biopsied and positive for adenocarcinoma, and subsequently had a right mastectomy and axillary clearance

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