Table 1.
Characteristics of the Study Cohort and Index Mutation Assessed in Primary Tumor Tissues and Lavage Specimens by NGS and Singleplex Approaches
| Patient No. | Age (years) | Type of Disease | Histology | FIGO Stage | Grade | Mutations in Primary Tumor | Mutations in Lavage Specimen | Notes |
|---|---|---|---|---|---|---|---|---|
| 154 | 55 | OC | Endometrioid | IA | G1 | FGFR2 p.K659E, c.1975T>C | FGFR2 p.K659E, c.1975T>C (1) | |
| 155 | 45 | OC | Serous | IC | G1 | PIK3CA p.H1047R, c.3140A>G | PIK3CA p.H1047R, c.3140A>G (3) | |
| 152 | 50 | OC | Serous | IIC | G3 | TP53 p.R248Q, c.743G>A | TP53 p.R248Q, c.743G>A (1) | |
| 140 | 44 | OC | Serous | IIIA | G3 | TP53 p.H168R, c.503A>G | TP53 p.H168R, c.503A>G (3) | |
| 149 | 57 | OC | Serous | IIIA | G3 | TP53 p.V272E, c.815T>A | TP53 p.V272E, c.815T>A (3) | |
| 148 | 71 | OC | Serous | IIIB | G3 | TP53 p.V216M, c.646G>A | TP53 p.V216M, c.646G>A (1) | |
| 205 | 42 | OC | Serous | IIIB | G2 | TP53 p.V217fs, c.650delT | TP53 p.V217fs, c.650delT (1) | |
| 143 | 52 | OC | Serous | IIIC | G3 | TP53 p.C135Y, c.404G>A | TP53 p.L194R, c.581T>G (3) | |
| 158 | 49 | OC | Serous | IIIC | G3 | TP53 p.G245V, c.734G>T | TP53 p.G245V, c.734G>T (3) | |
| 130 | 72 | OC | Serous | IIIC | G2 | PPP2R1A p.W257C, c.771G>T | PPP2R1A p.W257C, c.771G>T (1) | |
| 132 | 64 | OC | Serous | IIIC | G2 | NA | TP53 p.M237I, c.711G>C (1) | |
| 139 | 70 | OC | Serous | IIIC | G3 | TP53 p.H193P, c.578A>C | TP53 p.H193P, c.578A>C (1) | |
| 144 | 43 | OC | Serous | IIIC | G3 | TP53 p.G245S, c.733G>A | KRAS p.G12C, c.34G>T (1) | |
| 160 | 35 | OC | Serous | IIIC | G3 | TP53 p.T170 (in-frame deletion), c.508_510delACG | TP53 p.T170 (in-frame deletion), c.508_510delACG (2) | |
| 168 | 58 | OC | Serous | IIIC | G3 | TP53 p.R273H, c.818G>A | TP53 p.R273H, c.818G>A (1) | |
| 197 | 73 | OC | Serous | IIIC | G3 | NA | KRAS p.G12A, c.35G>C (1) | |
| 137 | 61 | OC | Serous | IIIC | G3 | TP53 p.H179R, c.536A>G | TP53 p.H179R, c.536A>G (1) | |
| 194 | 49 | OC | Malignant mixed Müllerian tumor | IIIC | G3 | NA | NRAS p.Q61R, c.182A>G (1) | |
| 196 | 59 | OC | Malignant mixed Müllerian tumor | IIIA1(i) | G3 | NA | PIK3CA p.T1025N, c.3074C>A (1) | |
| 131 | 55 | OC | Endometrioid, partly serous | IIIC | G2 | KRAS p.G13D, c.38G>A | KRAS p.G13D, c.38G>A (1) | |
| 147 | 60 | OC | Endometrioid | IIIC | G3 | KRAS p.G12D, c.35G>A | KRAS p.G12D, c.35G>A (1) | |
| 204 | 61 | OC | Clear cell | IIIC | G3 | NA | TP53 p.A159I, c.475_476GC>AT (1) | |
| 198 | 59 | OC | Serous | IVB | G3 | NA | PIK3CA p.M1004V, c.3010A>G (1) | |
| 172 | 55 | OC | Serous | IV | G3 | NA | TP53 p.G262V, c.785G>T (1) | |
| 133 | 31 | OC LMP | Serous low malignant potential | NA | AKT1 p.E17K, c.49G>A (1) | |||
| 161 | 52 | OC meta | Signet ring carcinoma, spread in ovaries | TP53 p.R282W, c.844C>T | TP53 p.R282W, c.844C>T (1) | |||
| 164 | 72 | UC | Uterine carcinosarcoma | IIIC | G3 | NA | PTEN p.L193fs, c.578delT (1) | |
| 199 | 73 | EC | EC | IA | G2 | PTEN p.R130*, c.388C>T | PTEN p.R130*, c.388C>T (1) | |
| 200 | 70 | EC | EC | IA | G2 | PIK3CA p.H1047Y, c.3139C>T | PIK3CA p.H1047Y, c.3139C>T (1) | |
| 201 | 70 | EC | EC | IA | G2 | APC p.Q1469*, c.4405C>T | APC p.Q1469*, c.4405C>T (1) | |
| 202 | 63 | EC | EC | IA | G1 | NA | PTEN p.Y315*, c.945T>A (1) | |
| 203 | 55 | EC | EC | IA | G1 | NA | CTNNB1 p.S37F, c.110C>T (1) | |
| 165 | 61 | B | Fibroma | NA | FBXW7 p.R505S, c.1513C>A (1) | |||
| 175 | 50 | B | Ovarian cyst, teratoma | — | KRAS p.G12V, c.35G>T (1) | |||
| 177 | 31 | B | Secondary infertility | NA | KRAS p.G12C, c.34G>T (1) | |||
| 178 | 46 | B | Uterus myomatosus, ovarian cyst | — | KRAS p.G12C, c.34G>T (1) | |||
| 181 | 43 | B | Secondary infertility, polyp of the cervix mucosa | NA | KRAS p.G12V, c.35G>T (1) | |||
| 184 | 78 | B | Ovarian cyst | — | KRAS p.G12V, c.35G>T (1) | |||
| 190 | 58 | B | Teratoma | — | PIK3R1 p.R348*, c.1042C>T (1) | |||
| 193 | 54 | B | Inclusion cysts | — | KRAS p.G12D, c.35G>A (1) | |||
| 146* | 39 | BC | Breast cancer, uterine leiomyoma | NA | TP53 p.C242F, c.725G>T (1) | Germline mutation | ||
| 162* | 77 | B | Ovarian serous cystadenoma (previous leukemia, signet ring carcinoma, squamous cell carcinoma) | NA | TP53 p.N239D, c.715A>G (1) | Two or more malignant tumors | ||
| 129 | 82 | OC | Serous | IIIC | G2 | TP53 c.920-1G>A, g.7576927C>T (splice site) | — | |
| 150 | 51 | OC | Serous | IIIC | G3 | TP53 p.C176Y, c.527G>A | — | |
| 163 | 67 | OC | Serous | IIIC | G3 | TP53 p.C238R, c.712T>C | — | |
| 195 | 69 | OC | Serous | IIIC | G2 | NA | — | |
| 166 | 77 | OC | Serous | IV | G3 | NA | — | |
| 174 | 69 | OC | Serous | IV | G3 | TP53 p.R342*, c.1024C>T | — | |
| 145 | 52 | B | Cervix mucous polyp | — | — | |||
| 136 | 49 | B | Follicle cyst | NA | — | |||
| 138 | 47 | B | Uterus myomatosus | NA | — | |||
| 151 | 33 | B | Follicular cyst | NA | — | |||
| 156 | 45 | B | Serous cystadenoma | — | — | |||
| 157 | 58 | B | Thecofibroma | — | — | |||
| 159 | 49 | B | Cystic teratoma | — | — | |||
| 176 | 67 | B | Cystic teratoma of the ovary | — | — | |||
| 179 | 45 | B | Uterus myomatosus | — | — | |||
| 180 | 35 | B | Uterus myomatosus | — | — | |||
| 182 | 43 | B | CIN III, ovarian cyst, endometriosis | NA | — | |||
| 183 | 35 | B | Ovarian cyst, endometriosis | NA | — | |||
| 185 | 62 | B | Ovarian cyst, cystadenofibroma, | — | — | |||
| 186 | 36 | B | Teratoma of the ovary | — | — | |||
| 187 | 36 | B | Endometriosis | — | — | |||
| 188 | 72 | B | Thecofibroma | — | — | |||
| 189 | 45 | B | Ovarian cyst | — | — | |||
| 191 | 28 | B | Chronical salpingitis, oophoritis | — | — | |||
| 192 | 52 | B | Thecofibroma | — | — | |||
| 141* | 60 | OC | Low-grade endometrioid adenocarcinoma | IB | G1 | — | — | No mutation identified in primary tumor |
| 170* | 67 | OC | Serous carcinoma | IIIA | G1 | — | — | No mutation identified in primary tumor |
| 134* | 52 | OC | Serous | IIIC | G3 | — | — | No mutation identified in primary tumor |
| 142* | 58 | OC | Serous | IIIC | G2 | TP53 p.Q104*, c.310C>T | — | Tubal ligation |
| 153* | 62 | OC | Metastatic ovarian cancer from lobular mamma carcinoma | — | — | Two or more malignant tumors | ||
| 128* | 58 | BC, OC | Ductal breast cancer, mucinous adenocarcinoma ovary | IIIC | G2 | — | — | Two or more malignant tumors |
NOTE. Mutations detected by NGS, safe sequencing system (SafeSeqS), and digital droplet polymerase chain reaction (ddPCR).
Abbreviations: —, no mutation detected; B, benign disease; BC, breast cancer; CIN, cervical intraepithelial neoplasia; EC, endometrial cancer; FIGO, International Federation of Gynecology and Obstetrics; G, grade; LMP, low malignant potential; NA, not applicable; NGS, next-generation sequencing; OC, ovarian cancer; OC meta, cancer metastasized in ovaries; UC, uterine cancer;
*
Excluded from final analysis.