Table 1.
Genetic Profile of Gliosarcomas
| Patient no. | Age/sex | Biopsy/diagnosis | Location | Area | p53 miscoding mutation | PTEN miscoding mutation | p16/sts ratio | CDK4/IFGN ratio | MDM2/DR ratio | EGFR/CF ratio | Immunohistochemistry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| p53 | MDM2 | EGFR | RB | |||||||||||
| 200 | 72 /M | 1st/GS | F | S | — | — | 0.38 | 0.95 | 1.17 | 1.25 | − | ++ | − | ++ |
| 206 | 72 /M | 1st/GS | T | S | Exon 7-codon 245 (GGC→GAC, Gly→Asp) | — | 0.04 | 0.63 | 0.79 | 0.8 | ++ | − | − | ++ |
| 207 | 55 /F | 1st/GS | T,P | S | Exon 6-codon 197 (GTG→GTGTG, 2bp insertion, stop at codon 246) | Exon 5-codon 111 (TGG→TAG, Trp→stop) | 0.44 | 1.06 | 1.02 | 0.99 | − | − | − | ++ |
| 208 | 76 /F | 1st/GS | O | S | —* | — | 0.16 | 2.33 | 1.04 | 1.25 | − | + | − | ++ |
| 209 | 32 /M | 1st/GS | B,S | S | —* | Exon 5-codon 88 (TAT→TCT, Tyr→Ser) | 0.51 | 1.30 | 1.03 | 0.94 | − | ++ | − | +++ |
| 210 | 51 /M | 1st/GS | T | S | Exon 6-codon 190 (CCT→TCT, Prol→Ser) | — | 1.10 | 0.92 | 1.40 | 0.96 | ++ | ++ | − | − |
| 52 /M | 2nd/GS | T | S | Exon 5-codon 151 (CCC→TCC, Prol→Ser) | — | 0.32 | 0.83 | 1.22 | 1.08 | +++ | − | − | ++ | |
| G | Exon 5-codon 151 (CCC→TCC, Prol→Ser) | — | 0.50 | 0.44 | 0.78 | 0.85 | +++ | − | − | − | ||||
| 211 | 51 /M | 1st/GS | P | S | —* | — | 0.17 | 1.34 | 1.49 | 1.67 | +++ | + | − | ++ |
| 212 | 51 /F | 1st/GS | T,O | S | nd | Exon 1-codon 17(CAA→CCA, Gln→Pro) | nd | nd | nd | nd | nd | nd | nd | nd |
| 52 /F | 2nd/GS | T,O | S | —* | Exon 1-codon 17(CAA→CCA, Gln→Pro) | 0.31 | 0.95 | 0.88 | 0.76 | ++ | + | + | ++ | |
| 213 | 61 /M | 1st/GS | — | S | — | — | 0.08 | 0.61 | 0.79 | 0.75 | nd | nd | nd | nd |
| G | — | — | 0.31 | 0.56 | 1.06 | 0.81 | nd | nd | nd | nd | ||||
| 214 | 37 /F | 1st/GS | T | S | — | — | 0.04 | 0.74 | 0.59 | 1.23 | nd | nd | nd | nd |
| G | — | — | 0.01 | 0.79 | 0.60 | 1.18 | nd | nd | nd | nd | ||||
| 215 | 43 /F | 1st/GS | C | S | — | Exon 5-codon 107 (GAT→GCT, Asp→Ala) | 0.75 | 1.19 | 1.09 | 1.35 | ++ | + | − | ++ |
| G | — | Exon 5-codon 107 (GAT→GCT, Asp→Ala) | 0.65 | 1.08 | 1.02 | 0.83 | +++ | + | − | ++ | ||||
| 216 | 41 /M | 1st/AA | T,P | G | — | nd | nd | nd | nd | nd | nd | nd | nd | nd |
| 42 /M | 2nd/GBM | T | G | — | nd | nd | nd | nd | nd | nd | nd | nd | nd | |
| 42 /M | 3rd/GS | B,S | S | Exon 8-codon 274 (GTT→GCT, Val→Ala) | — | 0.59 | 0.96 | 1.90 | 0.73 | +++ | ++ | − | ++ | |
| 217 | 52 /M | 1st/GS | T | S | — | — | 0.33 | 2.3 | 1.43 | 0.83 | − | + | − | +++ |
| 218 | 57 /M | 1st/GS | T | S | — | Exon 8-codon 274 (TGG→TGA, Trp→stop) | 0.60 | 1.23 | 1.29 | 0.88 | ++ | + | − | ++ |
| G | — | Exon 8-codon 274 (TGG→TGA, Trp→stop) | 0.78 | 1.24 | 1.47 | 1.28 | ++ | + | − | ++ | ||||
| 219 | 67 /M | 1st/GS | C | S | — | Exon 8-codon 274 (TGC→TAC, Trp→stop) | 0.17 | 0.34 | 0.49 | 0.58 | ++ | − | − | +++ |
| 220 | 63 /F | 1st/GS | T | S | — | — | 0.62 | 3.08 | 5.78 | 1.15 | − | +++ | − | +++ |
| G | — | — | 0.45 | 3.44 | 9.24 | 1.18 | − | +++ | − | +++ | ||||
| 221 | 56 /M | 1st/GBM | P,O | G | nd | nd | 0.14 | nd | nd | nd | nd | nd | nd | nd |
| 2nd/GS | P,O | S | — | — | 0.02 | 0.98 | 0.96 | 0.83 | + | ++ | − | +++ | ||
| 222 | 68 /F | 1st/GS | T | S | Exon 7-codon 237 (ATG→ATA, Met→Ile) | Exon 2-codon 48 (AAC→GAC, Asn→Asp) | 0.8 | 3.10 | 0.97 | 1.08 | ++ | − | − | +++ |
| 223 | 58 /F | 1st/GS | T | S | — | — | 0.48 | 0.71 | 0.74 | 1.13 | − | − | − | ++ |
| G | — | — | 0.58 | 0.80 | 0.68 | 1.06 | − | − | − | ++ |
*Previously reported by Biernat et al. 12 nd, not determined; —, negative; GS, gliosarcoma; GBM, glioblastoma multiforme; AA, anaplastic astrocytoma; S, sarcomatous component; G, gliomatous component; O, occipital; P, parietal; F, frontal; BS, brainstem; C, cerebrum. The results of immunohistochemistry were recorded as negative (−), positive in <5% of cells (+), in 5–50% of cells (++), and in >50% of cells (+++). Differential PCR data (in bold) indicate amplification or deletion (see Materials and Methods).