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.