Skip to main content
. 2022 Jul 5;12:911695. doi: 10.3389/fonc.2022.911695

Table 4.

Molecular genetic findings of uterine corpus mesonephric-like adenocarcinomas.

Case No. Case 1 Case 2 Case 3 Case 4
Mutations PTEN: exon 8
c.974T>G(p.L325R). VAF:78.85%
Uncertain significance
DUSP2:exon2
c.504C>G(p.Y168*). VAF:77.55%
Uncertain significance
PIK3CA:exon9
c.1637A>G(p.Q546R). VAF:52.6%
Likely pathogenic
PIK3CA:exon20
c.3145G>C(p.G1049R). VAF:45.9%
Likely pathogenic
KRAS: exon2
c.35G>C(p.G12A). VAF:72.29%
Likely pathogenic
KRAS: exon2
c.35G>T(p.G12V). VAF:69.45%
Likely pathogenic
SMARCB1:exon8
c.1091_1093del(p.K364del).VAF:14.87%
Uncertain significance
CHD4:exon25
c.3740T>C(p.I1247T). VAF:2.03%
Uncertain significance
ATM:exon50
c.7466C>T(p.S2489F). VAF:35.14%
Uncertain significance
SMAD4:exon8
c.913C>A(p.H305N).VAF:31.61%
Uncertain significance
MYCN:exon2
c.131C>T(p.P44L). VAF:11.52%
Uncertain significance
ATM:exon10
c.1372_1382dup (p.E461Dfs*16).
VAF:21.69%
Uncertain significance
PIK3CA:exon1
c.277C>T(p.R93W). VAF:29.91%
Uncertain significance
KMT2C:intron7
c.1012+1G>A. VAF:8.67%
Uncertain significance
DPYD:exon21
c.2737A>G(p.I913V). VAF:23.62%
Likely benign
TMPRSS2:exon3
c.230A>C(p.H77P). VAF:8.11%
Uncertain significance
PTCH1:exon23
c.4282G>A(p.E1428K).VAF:22.68%
Uncertain significance
TACC3:exon9
c.1787G>A(p.R596Q). VAF:20.33%
Uncertain significance
CNV NKX2-1 (CN:4.2)
TMB (per megabase) 7.4 mutations 7.4 mutations 3.2 mutations 2.1 mutations
Microsatellite analysis No mutations in DNA mismatch repair genes were detected

CN, copy number; CNV, copy number variation; TMB, tumor mutational burden; VAF, variant allele frequency.