Table 1.
Diagnostic data of microsatellite alterations (loss of heterozygosity [LOH] and/or microsatellite instability [MSI]) in circulating cell-free DNA (cfDNA) from renal cell carcinoma (RCC). AML, angiomyolipoma; cfDNA, cell-free DNA; MN, metanephricnephroma; NR, not reported; OCT oncocytoma; RCC, renal cell carcinoma; TCC, transitional cell carcinoma; MA, microsatellite alteration (loss of heterozygosity [LOH] and/or microsatellite instability [MSI]). * MA was performed only in 9 patients whose pre-operative plasma DNA was available.
| Author, Year, [Ref.] | Microsatellite Markers | Patients (n) | Controls (n) | Sensitivity (%) | Specificity (%) |
|---|---|---|---|---|---|
| Goessl, 1998, [79] | D3S1307(3p), D3SI560(3p), D3SI289(3p), D3SI300(3p) | 40 RCC | 10 healthy individuals | 63 (at least one MA) 35 (more than one MA) |
100 |
| Eisenberger, 1999, [37] | D1S251 (1pq), HTPO(2p), D3S1317(3p), D3S587(3p), D3S1560(3p), D3S1289(3p), D3S1286 (3p), D3S1038(3p), D4S243(4pq), FGA(4)(4q), CSF(5q), ACTBP2(5p), D8S348(8q), D8S307(8p), D9S747(9p), D9S242(9p), IFNa(9p), D9S162(9p), D11S488(11q), THO(11p), vWA(12p), D13S802(13q), MJD(14q), D17S695(17p), D17S654(17p), D18S51(18q), MBP(18q), D21S1245(21q). | 25 RCC 1 AML 1 MN 3 OCT |
8 individuals with nephrolithiasis 8 healthy individuals |
60 (at least one MA) | 100 |
| von Knobloch, 2002, [80] | D3S1560(3p), D3S2450(3p), D3S3666(3p), D3S2408(3p), D3S1259(3p), D5S1720(5p), D5S1480(5p), D5S476(5p), D5S818(5p), D7S1796(7p), D7S1807(7p), D8S261(8p), D8S560(8p), D9S925(9p), D13S153(13p), D17S799(17p), D17S1306 (17p), D17S783(17p), D17S1298(17p), D17S807(17p) | 53 RCC 1 renal B cell lymphoma 6 TCC |
20 healthy individuals | 74 (using 9 MA) 87 (using 20 MA) |
85 |
| Perego, 2008, [59] | D3S1566(3p), D3S1285(3p), D3S1300(3p), D3S1289(3p), D3S1597(3p) | 48 RCC 1 TCC 5 OCT |
41 healthy individuals | 55.6 (at least one MA) * | NR |