遗传性癌症易感性综合征中的卵巢癌

Ovarian Cancer in Hereditary Cancer Susceptibility Syndromes.

作者信息

Nakonechny Quentin B, Gilks C Blake

机构信息

Department of Pathology and Laboratory Medicine, Vancouver General Hospital, University of British Columbia, Room 1200, 1st Floor JPPN, 855 West 10th Avenue, Vancouver, British Columbia V5Z 1M9, Canada.

出版信息

Surg Pathol Clin. 2016 Jun;9(2):189-99. doi: 10.1016/j.path.2016.01.003. Epub 2016 Apr 11.

DOI:10.1016/j.path.2016.01.003

PMID:27241103

Abstract

Hereditary breast and ovarian cancer (HBOC) syndrome and Lynch syndrome (LS) are associated with increased risk of developing ovarian carcinoma. Patients with HBOC have a lifetime risk of up to 50% of developing high-grade serous carcinoma of tube or ovary; patients with LS have a 10% lifetime risk of developing endometrioid or clear cell carcinoma of the ovary. Testing all patients with tubo-ovarian high-grade serous carcinoma for mutations associated with HBOC syndrome, and all patients presenting with endometrioid or clear cell carcinoma of the ovary for mutations associated with LS can identify patients with undiagnosed underlying hereditary cancer susceptibility syndromes.

摘要

遗传性乳腺癌和卵巢癌（HBOC）综合征与林奇综合征（LS）均与卵巢癌发病风险增加相关。HBOC患者一生中发生输卵管或卵巢高级别浆液性癌的风险高达50%；LS患者一生中发生卵巢子宫内膜样癌或透明细胞癌的风险为10%。对所有输卵管卵巢高级别浆液性癌患者进行与HBOC综合征相关的突变检测，以及对所有出现卵巢子宫内膜样癌或透明细胞癌的患者进行与LS相关的突变检测，可识别出未被诊断出的潜在遗传性癌症易感性综合征患者。