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.