立陶宛卵巢癌患者的子宫腔灌洗突变分析
Uterine Cavity Lavage Mutation Analysis in Lithuanian Ovarian Cancer Patients.
作者信息
Žilovič Diana, Vaicekauskaitė Ieva, Čiurlienė Rūta, Sabaliauskaitė Rasa, Jarmalaitė Sonata
机构信息
Institute of Biosciences, Vilnius University, Sauletekio Avenue 7, LT-10222 Vilnius, Lithuania.
Laboratory of Clinical Oncology, National Cancer Institute, Santariškių 1, LT-08406 Vilnius, Lithuania.
出版信息
Cancers (Basel). 2023 Jan 30;15(3):868. doi: 10.3390/cancers15030868.
BACKGROUND
Type II ovarian cancer (OC) is generally diagnosed at an advanced stage, translating into a poor survival rate. Current screening methods for OC have failed to demonstrate a reduction in mortality. The uterine lavage technique has been used to detect tumor-specific mutations from cells presumably shed from high-grade serous ovarian cancer (HGSOC). We aimed to pilot whether the detection of mutation in uterine cavity lavage can be used as a diagnostic method for HGSOC using an expanded gene panel.
METHODS
In this study 90, uterine lavage and 46 paired biopsy samples were analyzed using next-generation sequencing (NGS) targeting as well as five additional OC-related genes: , , , , and .
RESULTS
Uterine lavage was successfully applied to all patients, and 56 mutations were detected overall. mutations were detected in 27% (10/37) of cases of type HGSOC; and mutations were also frequent in this group (46%; 17/37). Overall concordance between tissue and liquid biopsy samples was 65.2%.
CONCLUSION
Uterine lavage mutations in combination with other biomarkers could be a useful tool for the detection of lowly invasive HGSOC.
背景
II型卵巢癌（OC）通常在晚期被诊断出来，这导致生存率较低。目前的OC筛查方法未能证明死亡率有所降低。子宫灌洗技术已被用于从可能源自高级别浆液性卵巢癌（HGSOC）脱落的细胞中检测肿瘤特异性突变。我们旨在试点子宫腔灌洗中突变的检测是否可以作为一种使用扩展基因 panel 诊断HGSOC的方法。
方法
在本研究中，对90份子宫灌洗样本和46对活检样本进行了下一代测序（NGS）分析，靶向 以及另外五个与OC相关的基因： 、 、 、 和 。
结果
子宫灌洗成功应用于所有患者，共检测到56个突变。在27%（10/37）的HGSOC病例中检测到 突变；该组中 和 突变也很常见（46%；17/37）。组织活检样本和液体活检样本之间的总体一致性为65.2%。
结论
子宫灌洗 突变与其他生物标志物相结合可能是检测低侵袭性HGSOC的有用工具。
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