Table 2 Molecular characteristics of patients
Characteristics | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 |
|---|---|---|---|---|---|---|
SNV and INDEL | ARID2 p.A810P | ATM p.H1568D/M900V | CIC p.S721A | ATRX p.R1739* | ATRX p.F2113Sfs*9 | BRCA2 p.A2786T |
ATRX p.N1283Ifs*63 | ATRX p.P842Qfs*27 | DNMT3A p.G532S | CHEK2 p.H371Y | FLT4 p.E1336K | ERBB3 p.R488Q | |
BRCA1 p.G1350S | ERBB2 p.R985H | EPCAM p.Q204H | FGFR4 p.P136L | H3F3A p.G34R | HMCN1 p.I5618T | |
FAT1 p.Y2690C/S2310C | IDH1 p.R132H | FUBP1 p.Y58Wfs*18 | HMCN1 p.R4397Q | KIT p.I744T | IDH1 p.R132H | |
IDH1 p.R132H | SMARCA4 p.A130T | IDH1 p.R132H | IDH1 p.R132H | MLH1 p.R217C | MYCN p.P44L | |
IRS2 p.P614L | TP53 p.R273H | NOTCH1 p.F357del | NTRK1 p.D79G | NTRK1 p.H268Q | PDGFRB p.T88I | |
JAK2 p.E665D | PIKCR1 p.K448del | PTCH1 p.T416S | PDGFRA p.S377R | VEGFB p.R77C | ||
KLF4 p.A188E | PTCH1 p.E165del | TP53 p.Y234H | PDGFRB p.Q443R | YAP1 p.P335L | ||
NOTCH1 p.D1815G | TERT promoter C228T | TP53 p.R342* | ||||
PLCG1 p.E1115K | TP53 p.N131del | |||||
TP53 p.H214R/R175H | ||||||
CNV | CDK6 amp | CCND2 amp | CCND2 amp | CDK4 amp | ||
CDKN2A del | CDK4 amp | CDK6 amp | PTEN del | |||
CDKN2B del | CDKN2B del | |||||
MYC amp | MYC amp | |||||
NAB2 amp | ||||||
Chromosomal variation | 19q Chr del | 9p24.3-p21.2 del | 7p-q Chr amp | 10q11.21-q25.3 del | ||
10q26.12-q26.3 del | ||||||
10q26.3 amp | ||||||
11p15.5-p11.12 del | ||||||
12q12-q13.3 del | ||||||
12q14.1-q24.33 del | ||||||
19q Chr del | ||||||
19q11-q12 del | ||||||
19q13.2-q13.43 del | ||||||
21q11.2-q22.3 amp | ||||||
22q11.1-q13.33 del | ||||||
3p26.3-p11.1 del | ||||||
3q11.1-q29 del | ||||||
5p15.33-p12 del | ||||||
5q11.1-q35.3 del | ||||||
MGMT promoter | Unmethylation | Methylation | Methylation | Unmethylation | Methylation | Unmethylation |
MSI | MSS | MSS | MSS | MSS | MSS | MSS |