Table 2 The detection and analysis of ctDNA in ovarian cancer
From: Circulating tumor DNA: a noninvasive biomarker for tracking ovarian cancer
Detection method | Detection rate (%) | Diagnostic Sensitivity and/Specificity | Prognostic Significance | Sample Subtype / Stage | Number of patients (>10) | Whole blood / plasma or serum | Genetic marker | Ref. |
|---|---|---|---|---|---|---|---|---|
WGS | 89 | NR | PFS, HR=3.31, 95% CI 1.33-9.13, p=0.011 | HGSOC (III-IV) | 46 | plasma | BRCA1/2 | [55] |
CAPP-Seq | NR | NR | NR | HGSOC III or IV (1 mucinous carcinoma III) | 10 | Blood (8.5 ml) | TP53 (60%), YAP2, SLITRK5, RET, GRM1, FAT1, LRRTM1, BRINP2, CDH9 and GRM1, etc. | [56] |
ddPCR | 37.3 | NR | OS (p=0.017); PFS (p<0.001) | EOCs (I-IV) | 85 | Plasma (0.5 ml) | PIK3CA or KRAS | [57] |
MSP | 70.6 | Sp=50%, Sn=90.0% | NR | EOCs (I- III) | 17 | Plasma | CNV | [52] |
Targeted-NGS | TP53=96 | NR | PFS, HR=0.12 (p<0.0001) | EOCs (96% HGSOC) | 97 | Blood (9 ml); Plasma (2-3 ml) | BRAC1, BRAC2, TP53 | [58] |
Targeted-NGS | 100 for TP53 and variable for the other genes | NR | PFS (p<0.01) | HGSOC (II-IV) | 12 | Blood (5-6 ml); Plasma (1-2 ml) | CNV and >500 cancer related genes including TP53, PTEN, BRCA2, etc. | [59] |
Targeted-NGS | ~90% for onlyTP53;100 for all mutant genes | Sp=100%; Sn=74-75% | OS (p=0.025); PFS (p<0.001) | EOCs (II and III) | 10 drugresistant recurrent; 11 drugsensitive recurrent | Plasma (1 ml) | NV and mutant genes including TP53, BRCA1, NOTCH2, DNMT3A, etc. | [60] |
ddPCR | 10 | NR | PFS (p=0.004) | Clear cell carcinoma | 29 | Plasma | KRAS and PIK3CA | [61] |
ddPCR | 93 | NR | PFS, Reduced TTP (p=0.038) | HGSOC (II, III and IV) | 61 | Blood (15 ml); Plasma (1-5 ml) | TP53 | [62] |
WGS | 16.7 | NR | OS, HR=3.87 (p=0.015); PFS, HR=7.98 (p=0.045) | HGSOC (I-IV) | 36 | Blood (10 ml); Plasma (4 ml) | CNV | [63] |
CancerSEEK | 98 | Sn=98%; Sp>99%; AUC=0.91 (0.90-0.92) | NR | EOCs (I-III) | 54 | Plasma (7.5 ml) | 16 gene panel | [64] |
Targeted-NGS and ddPCR | 71 | Sn=97.4%; Sp=100% | NR | EOCs (I-IV) | 42 | Plasma | 55 gene panel including TP53, KIT, ALK, APC, ERBB4, etc. | [41] |
RT-MSP | 38 | NR | NR | HGSOC (I-IV) | 50 | Blood (5 ml); Plasma (2 ml) | ESR1 | [53] |
TAm-RSeq, dPCR | BRCA1 & 2 reversion=21; TP53=79 | 0.031-0.085% | Reversion BRAC1/2 | HGSOC (18) and endometrioid (1)(III and IV) | 19 | Plasma (1 ml) | BRAC1/2, TP53 | [65] |
TUC-BS & RRBS | 33 | NR | NR | HGSOC (I-IV) | 151 | Blood (20-40 ml); Serum (4 ml) | Regions linke to COL23A1,C2CD4D and WNT6 | [66] |
MSP | 90 | Sn=90.14% Sp=91.87% | NR | EOCs (I-IV) | 149 | Blood (3 ml); Serum (0.2 ml) | OPCML, RUNX3, TFP12 | [67] |
TAm-Seq, dPCR | Before treatment=82 Newly Diagnosed=86 | Sn=86% | Reduced TTP, HR=0.22 (0.07-0.67; p=0.008) | HGSOC (III and IV) | 40 | Blood (7.5 ml); Plasma (Average = 2.1 ml) | TP53 | [68] |
WEG (WISECONDOR) | 40.6 | Sn=40.6%; Sp=93.8% | NR | HGSOC (I-IV) | 32 | Plasma | CNV | [69] |
WGS | NR | Sn=67%; Sp=99.6% | NR | Invasive and borderline OC (I-IV) | 57 | Plasma | CNV | [70] |
MN-MSP | 90.1 | Sn=90.14%; Sp=91.06% | NR | EOCs (I- IV) | 114 | Serum | OPCML, RUNX3, TFPI2 | [71] |
WES, ddPCR, TGS | 93.8 | Sn=81-91%; Sp: 0-99% | PFS (p=0.001); OS (p=0.0194) | HGSOC (I-IV) | 22 | Serum (0.2 ml) | TP53, PTEN, PIK3CA, MET, KRAS, FBXW7, BRAF | [47] |