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一名携带BRCA1基因突变的患者体内针对着丝粒蛋白F的自身抗体。

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

作者信息

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

机构信息

Australian Clinical Laboratories, Melbourne, Australia.

Department of Rheumatology, Prince of Wales Hospital, Sydney, Australia.

出版信息

BMC Res Notes. 2016 Feb 11;9:84. doi: 10.1186/s13104-016-1908-7.

DOI:10.1186/s13104-016-1908-7
PMID:26868636
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4750191/
Abstract

BACKGROUND

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 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.

CONCLUSION

Here 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.

摘要

背景

针对着丝粒蛋白F的自身抗体于1993年首次被报道，其与恶性肿瘤的关联已有充分文献记载。

病例

我们报告一例48岁的白种女性，其携带与双侧乳腺癌相关的BRCA1基因突变。为排查可能的炎性关节病而进行的抗核自身抗体免疫荧光检测显示出高滴度的细胞周期相关核斑点模式，随后通过可寻址激光珠免疫测定法确认靶抗原为着丝粒蛋白F C端的一个免疫显性表位。

结论

在此，我们综述了关于着丝粒蛋白F的当前文献、其与乳腺癌的关联，并呈现了首例在携带BRCA1基因突变的个体中鉴定出该抗体的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ed4/4750191/defdb1926229/13104_2016_1908_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ed4/4750191/defdb1926229/13104_2016_1908_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ed4/4750191/defdb1926229/13104_2016_1908_Fig1_HTML.jpg

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1
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BMC Res Notes. 2016 Feb 11;9:84. doi: 10.1186/s13104-016-1908-7.
2
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本文引用的文献

1
Correlation between centromere protein-F autoantibodies and cancer analyzed by enzyme-linked immunosorbent assay.酶联免疫吸附法分析着丝粒蛋白 F 自身抗体与癌症的相关性。
Mol Cancer. 2013 Aug 26;12(1):95. doi: 10.1186/1476-4598-12-95.
2
Prognostic relevance and therapeutic implications of centromere protein F expression in patients with esophageal squamous cell carcinoma.在食管鳞癌患者中，着丝粒蛋白 F 表达的预后相关性和治疗意义。
Dis Esophagus. 2013 Aug;26(6):636-43. doi: 10.1111/dote.12002. Epub 2012 Nov 16.
3
Involvement of Cenp-F in interphase chromatin organization possibly through association with DNA-dependent protein kinase.
Cenp-F 可能通过与 DNA 依赖性蛋白激酶的结合参与间期染色质组织。
Acta Biochim Biophys Sin (Shanghai). 2010 Dec;42(12):839-46. doi: 10.1093/abbs/gmq095. Epub 2010 Oct 26.
4
Historical perspectives on the discovery and elucidation of autoantibodies to centromere proteins (CENP) and the emerging importance of antibodies to CENP-F.关于发现和阐明着丝粒蛋白（CENP）自身抗体的历史观点，以及 CENP-F 抗体的重要性不断凸显。
Autoimmun Rev. 2011 Feb;10(4):194-200. doi: 10.1016/j.autrev.2010.09.025. Epub 2010 Oct 8.
5
Involvement of CENP-F in histone methylation.CENP-F 参与组蛋白甲基化。
Acta Biochim Biophys Sin (Shanghai). 2010 Mar 15;42(3):173-6. doi: 10.1093/abbs/gmq001.
6
The kinetochore protein Cenp-F is a potential novel target for zoledronic acid in breast cancer cells.着丝粒蛋白 Cenp-F 是唑来膦酸在乳腺癌细胞中潜在的新型作用靶点。
J Cell Mol Med. 2011 Mar;15(3):501-13. doi: 10.1111/j.1582-4934.2009.00995.x.
7
Expression of centromere protein F (CENP-F) associated with higher FDG uptake on PET/CT, detected by cDNA microarray, predicts high-risk patients with primary breast cancer.通过cDNA微阵列检测发现，着丝粒蛋白F（CENP-F）的表达与PET/CT上较高的氟代脱氧葡萄糖摄取相关，可预测原发性乳腺癌高危患者。
BMC Cancer. 2008 Dec 22;8:384. doi: 10.1186/1471-2407-8-384.
8
Farnesyl transferase inhibitors impair chromosomal maintenance in cell lines and human tumors by compromising CENP-E and CENP-F function.法尼基转移酶抑制剂通过损害着丝粒蛋白E（CENP-E）和着丝粒蛋白F（CENP-F）的功能，破坏细胞系和人类肿瘤中的染色体维持。
Mol Cancer Ther. 2007 Apr;6(4):1317-28. doi: 10.1158/1535-7163.MCT-06-0703.
9
CENP-F expression is associated with poor prognosis and chromosomal instability in patients with primary breast cancer.着丝粒蛋白F（CENP-F）的表达与原发性乳腺癌患者的不良预后和染色体不稳定性相关。
Int J Cancer. 2007 Apr 1;120(7):1434-43. doi: 10.1002/ijc.22413.
10
Advances and applications of multiplexed diagnostic technologies in autoimmune diseases.多重诊断技术在自身免疫性疾病中的进展与应用
Lupus. 2006;15(7):422-7. doi: 10.1191/0961203306lu2327oa.