Table 4.
Results of immunostaining and targeted sequencing.
| Case No | Immunostaining Results | Targeted Sequencing Results | ||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ER (%) | PR (%) | PAX2 (%) | GATA3 (%) | p53 | p16 | PTEN Loss (%) | Gene | Mutation Type | Sequence Change | Amino Acid Change | VAF (%) | |||||||||||||
| S | M | W | N | S | M | W | N | S | M | W | N | S | M | W | N | |||||||||
| 1 | 80 | 10 | 0 | 10 | 70 | 10 | 10 | 10 | 20 | 50 | 0 | 30 | 0 | 0 | 0 | 100 | WT | Patchy | 20 | None | ||||
| 2 | 50 | 20 | 5 | 25 | 50 | 10 | 15 | 25 | 0 | 0 | <5 | >95 | 10 | 0 | 0 | 90 | WT | Patchy | None |
PTEN
PIK3CA |
Missense Missense |
c.389G > T c.1624G > A |
p.R130L p.E542K |
14.8 9.4 |
| 3 | 60 | 20 | 5 | 15 | 70 | 10 | 5 | 15 | 0 | 0 | <5 | >95 | 0 | 0 | 0 | 100 | WT | Patchy | 80 | PTEN | Frameshift deletion | c.731delC | p.P244Lfs*12 | 10.4 |
| 4 | 40 | 20 | 0 | 40 | <1 | 0 | 0 | >99 | 20 | 10 | 0 | 70 | <1 | <1 | 0 | >99 | Mut (OE) | N | None |
TP53
TP53 |
Missense Missense | c.833C > G c.473G > T |
p.P278R p.R158L |
56.8 4.6 |
| 5 | 10 | 40 | 30 | 20 | 40 | 30 | 10 | 20 | 0 | 0 | 0 | 100 | 0 | 0 | 0 | 100 | Mut (OE) | Patchy | None |
TP53
PIK3CA |
Missense Missense |
c.818G > T c.3140A > G |
p.R273L p.H1047R |
22.3 21.3 |
Abbreviations: VAF, variant allele frequency; S, strong; M, moderate; W, weak; N, negative; WT, wild-type pattern; Mut, mutation pattern; OE: overexpression.