Samples | Sex | Age | Tumor site | CD99 | EWSR1 gene rearrangements | Survival(months) |
---|---|---|---|---|---|---|
T1 | M | 6 | Head | + | detected | 7 |
T2 | F | 22 | Chest wall | + | detected | Alive |
T3 | F | 27 | Kidney | + | detected | 2 |
T4 | M | 21 | Cervical vertebra | + | detected | 4 |
T5 | M | 9 | Chest wall | + | detected | 19 |
T6 | M | 70 | Pleura | + | detected | 10 |
T7 | F | 24 | Kidney | + | detected | 38 |
T8 | M | 47 | Retroperitoneum | + | detected | 1 |
T9 | M | 10 | Cervical vertebra | + | detected | Alive |
T10 | M | 27 | Thoracic vertebra | + | detected | Alive |
T11 | M | 12 | Cervical vertebra | + | detected | Alive |
T12 | F | 39 | Ankle | + | detected | NA |
T13 | F | 16 | Pelvis&Pubis | + | detected | Alive |
T14 | F | 15 | Femur | + | detected | NA |
T15 | M | 2 | Scrotum | + | detected | NA |
T16 | F | 12 | Femur | + | detected | NA |
T17 | M | 15 | Scapula | + | detected | NA |
T18 | M | 37 | Thoracic vertebra | + | detected | 17 |
T19 | M | 15 | Upper arm | + | detected | NA |
T20 | M | 12 | Chest wall | + | detected | 23 |
Gene | Exon | cDNA change | Protein change | Mutation type | COSMIC ID | ClinVar | ICGC | SIFT | PolyPhen-2 |
---|---|---|---|---|---|---|---|---|---|
KDR | 11 | c.1416A>T | p.Q472H | missense | COSM149673 | --- | low | --- | --- |
STK11 | 8 | c.1062C>G | p.F354L | missense | COSM21360 | pathogenic | --- | 0.20 | 0.03 |
KRAS | 2 | c.35G>A | p.G12D | missense | COSM521 | pathogenic | low | 0.00 | 0.80 |
MLH1 | 12 | c.1151T>A | p.V384D | missense | COSM26085 | benign | --- | 0.00 | 1.00 |
PIK3CA | 2 | c.323G>A | p.R108H | missense | COSM27497 | --- | low | 0.01 | 1.00 |
PIK3CA | 10 | c.1612G>A | p.D538N | missense | COSM21467 | --- | low | 0.01 | 1.00 |
APC | 16 | c.3875C>T | p.T1292M | missense | COSM1432296 | uncertain | high | 0.01 | 0.35 |
EGFR | 3 | c.340G>A | p.E114K | missense | COSM174732 | --- | low | 0.05 | 0.02 |
FGFR2 | 7 | c.758C>T | p.P253L | missense | COSM537803 | --- | high | --- | --- |
HNF1A | 4 | c.815G>A | p.R272H | missense | COSM24933 | pathogenic | --- | 0.00 | 1.00 |
VHL | 3 | c.481C>T | p.R161* | missense | COSM17612 | pathogenic | high | --- | --- |
IDH1 | 4 | c.394C>T | p.R132C | missense | COSM28747 | --- | high | 0.00 | 0.26 |
PTPN11 | 3 | c.215C>T | p.A72V | missense | COSM13015 | --- | high | 0.00 | 0.99 |
Gene | Type | Relevant signaling pathway | Variant frequency | Drugs |
---|---|---|---|---|
KDR | oncogene | PI3K-Akt | 13/20 | Axitinib, Regorafenib |
EGFR | oncogene | PI3K-Akt, RTKs, Ras/Raf/MEK/ERK | 3/20 | Gefitinib, Lapatinib |
PIK3CA | oncogene | PI3K-Akt | 2/20 | Idelalisib |
KRAS | oncogene | PI3K-Akt, Ras family | 1/20 | Antroquinonol a |
KIT | oncogene | RTKs | 1/20 | Dasatinib |
PDGFRA | oncogene | RTKs | 1/20 | Imatinib Mesylate |
SRC | oncogene | MAPK, PI3K-Akt | 1/20 | Bosutinib |