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. 2017 Nov 25;8(65):109457–109467. doi: 10.18632/oncotarget.22691

Table 1. Results of the NGS, CNV and FISH analyses.

Case no. NGS result CNV gain CNV loss FISH result
A1 TP53: c.658T>C p.Y220H none none
A2 KRAS: c.35G>A p.G12D none none
A51 BRAF: c.1799T>A p.V600E;
PIK3CA: c.1624G>A p.E542K;
TP53: c.672+1G>C; TP53: c.818G>A p.R273H
none none
P1 KNSTRN: c.28G>A p.D10N;
TP53: c.585_586delinsTT p.R196*;
TP53: c.748_749CC>TT p.P250F
none none
P2 TP53: c.[734G>A];[741C>T] p.[G245D];R248W] none none
P3 PIK3CA: c.1600A>G p.I534V;
TP53: c.464_465CC>TT p.T155I;
TP53: c.853G>A p.E285K;
TP53: c.783-2A>T
none none
P4 OXA1L: c.169C>T p.L57F;
TP53: c.773A>C p.E258A;
TP53: c.808T>A p.F270I
none none
P5 TP53: c.574C>T p.Q192*;
TP53: c.742C>T p.R248W
BRAF (CN=4.5, p=1.4e-23) none BRAF ratio 4.3
P6 TP53: c.949C>T p.Q317* none none BRAF ratio 1.2;
CDK4 ratio 1.9;
KIT ratio 1.8;
PDGFRA ratio 1.4
P7 TP53: c.530C>T p.P177L;
TP53: c.742C>T p.R248W
none none
P8 wildtype none none BRAF ratio 1.0;
CDK4 ratio 0.85;
KIT ratio 0.7;
PDGFRA ratio 1.0
P9 RAC1: c.85C>T p.P29S;
TP53: c.380C>T p.S127F;
TP53: c.585C>T p.R196*
KNSTRN (CN=3.7, p=2.7e-14) none
P10 KRAS: c.38G>A p.G13D;
TP53: c.406C>T p.Q136*;
TP53: c.949C>T p.Q317*
none none
P11 KNSTRN: c.13G>A p.E5K;
PIK3CA: c.1633G>A p.E545K;
TP53: c.644G>C p.S215T;
TP53: c.730G>A p.G244S;
TP53: c.833C>T p.P278L
none none BRAF ratio 1.2;
CDK4 ratio 1.0;
KIT ratio 1.9;
PDGFRA ratio 1.3
P13 HRAS: c.38G>A p.G13D;
TP53: c.747G>T p.R249S
none none
P14 TP53: c.856G>A p.E286K;
TP53: c.841G>A p.D281N
none none
P15 KNSTRN: c.13G>A p.E5K;
TP53: c.581T>G p.L194R
none CDKN2A (CN=0.5, p=0.037)
P16 TP53: c.528C>G p.C176W;
TP53: c.580C>T p.L194F
none none
P18 NRAS: c.181C>A p.Q61K;
PIK3CA: c.3145G>A p.G1049S;
TP53: c.422G>T p.C141F;
TP53: c.655C>T p.P219S;
TP53: c.743_744GG>AA p.R248Q
IDH1 (CN=2.9, p=7.7e-06) PDGFRA (CN=1, p=0.0031); KIT (CN=0.8, p=3.5e-05) KIT ratio 0.6;
PDGFRA NA
P19 RAC1: c.85C>T p.P29S;
TP53: c.535C>T p.H179Y;
TP53: c.586C>T p.R196*
none none
P20 TP53: c.859G>T p.E287* none none
P21 PIK3CA: c.1624G>A p.E542K;
TP53: c.584_585TC>GT p.I195S;
TP53: c.716A>G p.N239S
none none
P221 PIK3CA: c.1624G>A p.E542K;
TP53: c.672+1G>C;
TP53: c.818G>A p.R273H
none none
P23 IDH1: c.379C>T p.P127S;
TP53: c.637C>T p.R213*
none none
P24 TP53: c.585_586CC>TT p.R196*;
TP53: c.712T>A p.C238S
none PDGFRA (CN=1.4, p=0.0034) PDGFRA ratio 0.4
P25 TP53: c.490A>T p.K164*;
TP53: c.586C>T p.R196*
PDGFRA (CN=4.2, p=7.1e-25) none PDGFRA ratio 3.8
P261 PIK3CA: c.1624G>A p.E542K;
TP53: c.672+1G>C;
TP53: c.818G>A p.R273H
none none

1 1 AFX (Case A5) and two recurring PDS samples (Case P22 and P26) came from the same patient at the age of 83, 86 and 87 years.

NA=Not applicable, Cases A3, A4 and P12, P17 were not analyzable due to insufficient tumor material.