Table 2.
Mutations identified in soft tissue sarcoma
| Gene | No. of mut.a |
Subtype | Tumor ID | Cases affected (%)b |
mRNA | Protein |
|---|---|---|---|---|---|---|
| CDH1 | 2 | DDLPS | PT7DD | 2 | 712A>AG | N238D |
| GIST | PT61GT | 4.5 | 1849G>AG | A617Te | ||
| CTNNB1 | 2 | DDLPS | PT18DD | 2 | 122C>CT | T41Id |
| Synovial | PT195SYN | 4 | 95A>AT | D32Vd | ||
| EPHA1 | 1 | DDLPS | PT10DD | 2 | 634G>GA | A212T |
| EPHA5 | 1 | Pleomorphic | PT182PL | 4.2 | 2386A>AG | Y796H |
| EPHA7 | 1 | MYXF | PT106MF | 2.6 | 1649C>CT | S550N |
| ERBB4 | 2 | MYXF | PT130MF | 2.6 | 3437A>AT | D1146V |
| Pleomorphic | PT167PL | 4.2 | 1558A>AT | C520S | ||
| FBXW7 | 2 | DDLPS | PT38DD | 2 | 338_342delTCATC>TC | E113fs |
| GIST | PT58GT | 4.5 | 563G>GT | C188F | ||
| IRS1 | 1 | GIST | PT61GT | 4.5 | 3406C>CT | E1136K |
| KIT | 6 | GIST | PT57GT | 23 | 1727T>CT | L576Pd |
| GIST | PT63GT | 1961T>CT | V654Ad | |||
| GIST | PT61GT | 1667_1674delAGTGGAAG>AG | Q556fs | |||
| GIST | PT60GT | 1667_1687delc | Q556_I563>Q | |||
| GIST | PT59GT | 1670_1675delGGAAGG | W557_V559>Fe | |||
| MRC | PT149MRC | 4.8 | 2334G>CG | K778N | ||
| LTK | 1 | Synovial | PT190SYN | 4 | 2243_2244delTT>T | C748fs |
| MOS | 1 | GIST | PT61GT | 4.5 | 898A>AG | S300P |
| MST1R | 1 | GIST | PT60GT | 4.5 | 1229G>AG | P410L |
| NF1 | 7 | MYXF | PT104MF | 10.5 | 7972C>CT | H2658Y |
| MYXF | PT104MF | 7790C>CT | S2597L | |||
| MYXF | PT127MF | 910C>T | R304*d | |||
| MYXF | PT134MF | 910C>T | R304*d | |||
| MYXF | PT102MF | 7010T>TG | L2337R | |||
| Pleomorphic | PT176PL | 8.3 | 1105C>CT | Q369*d | ||
| Pleomorphic | PT179PL | 4006C>CT | Q1336* | |||
| NTRK1 | 1 | MYXF | PT101MF | 2.6 | 2338C>CT | R780W |
| PI4KA | 2 | MYXF | PT137MF | 2.6 | 4081_4088delTCTTATCT>TCT | 1361fs |
| Synovial | PT203SYN | 4 | 4081_4088delTCTTATCT>TCT | 1361fs | ||
| PIK3CA | 6 | MRC | PT143MRC | 18 | 1633G>AG | E545Ke |
| MRC | PT149MRC | 1633G>AG | E545Ke | |||
| MRC | PT138MRC | 3140A>AG | H1047Re | |||
| MRC | PT158MRC | 3140A>AG | H1047Re | |||
| Pleomorphic | PT173PL | 4.2 | 1660delC | H554fs | ||
| Synovial | PT195SYN | 4 | 1659delT | S553fs | ||
| PTEN | 2 | MYXF | PT100MF | 2.6 | G>CG | Splice site |
| Synovial | PT206SYN | 4 | 106G>AA | G36Re | ||
| PTK2B | 1 | Pleomorphic | PT163PL | 4.2 | G>AG | Splice site |
| RB1 | 1 | Pleomorphic | PT167PL | 4.2 | 1818T>TA | Y606*e |
| SYK | 1 | Pleomorphic | PT163PL | 4.2 | 52G>AA | G18S |
| TP53 | 4 | Pleomorphic | PT163PL | 16.7 | 404C>AA | C135Fe |
| Pleomorphic | PT169PL | 464G>AA | T155I | |||
| Pleomorphic | PT173PL | C>CT | Splice site | |||
| Pleomorphic | PT164PL | C>TT | Splice site |
DDLPS, dedifferentiated liposarcoma; GIST, gastroinstestinal stromal tumor; MRC, myxoid/round-cell liposarcoma; MYXF, myxofibrosarcoma.
a
Number of nonsynonymous or splice site mutations detected in either primary sequencing or extended genotyping.
b
Percentage of cases by subtype.
c
Reference allele: GTGGAAGGTTGTTGAGGAGAT.
Mutations previously identified in d soft-tissue sarcoma or in any e cancer type (COSMIC; http://www.sanger.ac.uk/genetics/CGP/cosmic/).