子宫内膜癌(EC)是一种主要影响围绝经期和绝经后妇女的疾病,近年来其发病率持续上升。由于子宫内膜癌诊断的金标准-宫腔镜活检-是侵入性的,贵,不适合广泛使用,迫切需要一种既具有高灵敏度又具有高特异性的非侵入性方法。因此,我们使用棉塞收集的标本研究了UterCAD(子宫脱落细胞染色体非整倍性检测器)早期检测EC的功效。
■我们前瞻性招募了51例有异常出血病史的患者,他们计划在2020年3月至2021年1月期间接受宫腔镜检查或子宫切除术。在执行侵入性程序之前,将卫生棉条插入患者的阴道6小时,以从子宫腔收集脱落的细胞。提取总DNA,并在IlluminaHiSeqX10上进行低覆盖全基因组测序,我们使用UterCAD分析了患有EC的女性和患有良性病变的女性之间染色体状态的差异。
■30例EC患者,包括26例子宫内膜样癌(EEC)和4例子宫浆液性癌(USC),以及14例良性病例-纳入我们的最终分析.从26例EC患者(83.3%)的卫生棉条标本中检测到拷贝数变异(CNVs),包括21个EEC(80.7%)和4个USC(100%)。在良性组中,只有1例局灶性不典型增生患者出现10q染色体增加(P<0.001)。在EC组中,最常见的CNV是8q(N=14)的拷贝增益,2q(N=4),和10q(N=3);以及2q(N=3)和17p(N=2)的拷贝损失。当我们按FIGO阶段分层时,IA阶段的CNV率,IB,II/III为83.3%(15/18),85.7%(6/7),和80.0%(4/5),分别。在最佳截止点(|Z|≥2.3),UterCAD将83.3%的EC病例与良性病例区分开来,特异性为92.9%。
■我们最初报道,UterCAD可以作为早期检测EC的非侵入性方法,特别是在罕见的和积极的USC亚型。因此,使用UterCAD可以避免不必要的侵入性程序,从而减轻患者的治疗负担。
UNASSIGNED: Endometrial carcinoma (EC) is a disease that predominantly affects peri- and post-menopausal women and its incidence has continued to rise over recent years. Since the gold standard for EC diagnosis-hysteroscopic biopsy-is invasive, expensive, and unsuitable for wide use, there is an urgent need for a non-invasive method that exhibits both high sensitivity and high specificity. We therefore investigated the efficacy of UterCAD (the uterine exfoliated cell chromosomal aneuploidy detector) using tampon-collected specimens for the early detection of EC.
UNASSIGNED: We prospectively recruited 51 patients with a history of abnormal bleeding and who planned to undergo hysteroscopic examination or hysterectomy between March 2020 and January 2021. Before executing an invasive procedure, a tampon was inserted into the patient\'s vagina for 6 h to collect exfoliated cells from the uterine cavity. Total DNA was extracted and low-coverage whole-genome sequencing was performed on an Illumina HiSeq X10, and we analyzed the differences in chromosomal status between women with EC and those bearing benign lesions using UterCAD.
UNASSIGNED: Thirty EC patients-including 26 with endometrioid carcinoma (EEC) and four with uterine serous carcinoma (USC), as well as 14 benign cases-were enrolled in our final analysis. Copy-number variations (CNVs) were detected in tampon specimens collected from 26 EC patients (83.3%), including 21 with EEC (80.7%) and four with USC (100%). In the benign group, only one woman with focal atypical hyperplasia presented with a 10q chromosomal gain (P < 0.001). In the EC group, the most common CNVs were copy gains of 8q (N = 14), 2q (N = 4), and 10q (N = 3); and copy losses of 2q (N = 3) and 17p (N = 2). When we stratified by FIGO stage, the CNV rates in stages IA, IB, and II/III were 83.3% (15/18), 85.7% (6/7), and 80.0% (4/5), respectively. At the optimal cutoff (|Z| ≥ 2.3), UterCAD discriminated 83.3% of EC cases from benign cases, with a specificity of 92.9%.
UNASSIGNED: We initially reported that UterCAD could serve as a non-invasive method for the early detection of EC, especially in the rare and aggressive USC subtype. The use of UterCAD might thus avoid unnecessary invasive procedures and thereby reduce the treatment burden on patients.