Table 1 Minimally invasive specimen collection techniques in this review
From: Minimally invasive approaches for the early detection of endometrial cancer
Author | Biospecimen | Number of EC cases | Number of controls | Technology | Findings |
|---|---|---|---|---|---|
Tanaka2012 [56] | Blood | 53 | 9 | qPCR | The cfDNA levels in ECs tended to be higher than in benign condition |
Vizza2018 [57] | Blood | 60 | 22 | qPCR-Alu115 to measure cfDNA content and qPCR-Alu247 to measure DNA integrity index | Total cfDNA content significantly increases in high grade EC. Serum DNA integrity was higher in samples with LVSI |
Łukasiewicz2021 [58] | Blood | 53 | 242 | QIAseq Targeted Human Colorectal Cancer Panel covering 71 genes | Platelet-dedicated classifier yielded AUC of 97.5% in the test set when discriminating between healthy subjects and cancer patients. ctDNA-dedicated classifier discriminated primary tumor tissue samples with AUC of 96% |
Torres2013 [59] | Blood | 77 | 45 | Agilent Human miRNA Microarray to investigate the expression of miRNAs | miR-9/miR-1228 and miR-9/miR-92a, classified EEC plasma samples with high accuracy yielding AUCs of 0.90and 0.913, respectively |
Jia2013 [60] | Blood | 33 | 42 | TaqMan® low-density arrays and hydrolysis probe-based stem-loop qRT-PCR | The qRT-PCR analysis identified a profile of four serum miRNAs (miR-222, miR-223, miR-186 and miR-204) as a fingerprint for EEC detection(ROC = 0.927) |
Maritschnegg2015 [61] | Uterine lavage | 5 | 27 | Multiplex amplification and sequencing of 136 amplicons covering 16 genes | All five analyzed lavage specimens from patients with EC harbored mutations. Eight (29.6%) of 27 patients with benign lesions tested positive for mutation |
Nair2016 [62] | Uterine lavage | 7 | 95 | Ultra-deep targeted next-generation sequencing gene panels composed of 56 + 12 genes | EC driver mutations were identified in all seven women who received a cancer diagnosis |
Fiegl2004 [63] | Tampons | 15 | 109 | DNA methylation changes (MethyLight) of 5 genes | All endometrial cancer patients revealed three or more methylated genes, whereas 91% (99 of 109) of the patients without EC had no or fewer than three genes methylated in their vaginal secretion |
Bakkum-Gamez2015 [64] | Tampons | 38 | 28 | Pyrosequencing for DNA methylation of 12 genes | Mean methylation was higher in tampon specimens from EC for 9 of 12 genes; AUC was highest for HTR1B (0.82), RASSF1 (0.75), and HOXA9 (0.74) |
Jones2013 [65] | vaginal swabs | 64 | 23 | Epigenome-wide methylation analysis of > 27,000 CpG sites | HAND2 is one of the most commonly hypermethylated and silenced genes in endometrial cancer |
Doufekas2016 [66] | vaginal swabs | 30 | 73 | Illumina 450 k DNA methylation bead array assay | The EC DNAme signature resulted in ROC area under the curve of 0.83 to discriminate controls and the cancers |
Kinde2013 [67] | Pap smear | 24 | 14 | The modified Safe-SeqS assay used to detect mutations in 12 different genes | Scientists were able to identify the same mutations in the DNA from liquid Pap smear specimens in 100% of EC (24 of 24) |
Wang2018 [68] | Pap smear | 382 | 714 | The modified Safe-SeqS assay to detect mutations in 18 genes, and an assay for aneuploidy | 81% of 382 EC patients were positive, including 78% of patients with early-stage disease |
Wang2018 [68] | Tao brush | 123 | 125 | The modified Safe-SeqS assay to detect mutations in 18 genes, and an assay for aneuploidy | 93% of 123 patients with EC were positive, whereas none of the samples from 125 women without cancer were positive (specificity, 100%) |
Huang2017 [69] | Cervical scrapings | 50 | 96 | quantitative methylation-specific PCR (QMSP) for 14 genes | A panel comprising any two of the three hypermethylated genes(BHLHE22, CDO1, CELF4) reached a sensitivity of 91.8%, specificity of 95.5% for EC screening |
Chang2018 [70] | Cervical scrapings | 40 | 40 | Quantitative methylation-specific polymerase chain reaction for 14 genes | Sensitivity and specificity of POU4F3/MAGI2 were 83%-90% and 69%-75% for detection of EC |