Table 3 Clinically actionable gene alterations

AKT1

Amplification

3

Response to mTOR inhibitors, AKT inhibitor MK2206 [28]

CREBBP

p.Q540X (c.C1618T)

7

Response to HDAC inhibitors (active clinical trial) [29]

HNF1A

p.288 fs (c.864_865insC)

3

Response to mTOR inhibitors in in-vitro experiments [30]

IDH1

p.R132H (c.G395A)

8

Response to IDH1 and pan-IDH inhibitors (active clinical trial) [31]

MET

Amplification

7

Response to c-MET inhibitors

NF1

c.A3975-2 T

6

Possibly increased sensitivity to MEK inhibitors [32]

PIK3CA

p.E545K (c.G1633A)

12

Response to PI3K/AKT/mTOR inhibitors [26, 27]

p.M1043 V (c.A3127G)

2

Amplification

13, 7

PTEN

p.R142fs (c.425delG)

6

Response to PI3K/AKT/mTOR inhibitors [27]

TP53

p.Y234C (c.A701G)

13

Better response to bevacizumab [24]; Better response to pazopanib in advanced sarcoma [25]

p.R273C (c.C817T)

9

Nonsense

2, 7

Frameshift

2, 5, 12