Table 1. Results of multiplatform molecular profiling of 36 malignant phyllodes cases.
| Case (site) | PD-L1 protein (IHC) | EGFR protein (IHC) | EGFR (ISH) | EGFR (mutations) | NGS and Sanger (other mutations) |
|---|---|---|---|---|---|
| Case#1 (P) | Negative | Positive | Negative | Wild type | TP53 (G245S) PIK3CA (H1047R) PIK3CA (VUS G106_R108del) |
| Case#2 (P) | n/a | Positive | Negative | Wild type | None |
| Case#3 (P) | Negative | Positive | Negative | Wild type | PIK3CA (H1047R) PIK3CA (E545K) |
| Case#4 (P) | Negative | Positive | Negative | Wild type | None |
| Case#5 (P) | Negative | Positive | Negative | Wild type | TP53 (R248Q) |
| Case#6 (P) | Negative | Positive | Negative | Wild type | RET (VUS S653T) |
| Case#7 (P) | Negative | Positive | Negative | EGFR (V774M) | None |
| Case#8 (P) | Negative | Positive | Negative | Wild type | PIK3CA (H1047L) |
| Case#9 (P) | Negative | Positive | Amplified | Wild type | n/a |
| Case#10 (P) | Positive | Positive | Negative | Wild type | BRCA1 (M17751) BRCA2 (A371T, VUS) |
| Case#11 (P) | Negative | Positive | Amplified | Wild type | n/a |
| Case#12 (R) | Negative | Positive | n/a | Wild type | n/a |
| Case#13 (P) | Negative | Positive | n/a | Wild type | n/a |
| Case#14 (P) | Positive | Negative | Negative | Wild type | n/a |
| Case#15 (P) | Positive | Positive | Amplified | Wild type | TP53 (R248W) CDH1 (Q422K VUS) |
|
Case#16 P M |
Negative Positive |
Positive Positive |
Negative Negative |
Wild type Wild type |
PIK3CA (H1047L), KRAS (G12D) PIK3CA (H1047L), KRAS (G12D) |
|
Case#17 P M |
Negative Positive |
Positive Positive |
Negative Negative |
Wild type Wild type |
RB1 (P347fs) RB1 (P347fs) |
| Case#18 (R)* | n/a | n/a | n/a | n/a | n/a |
| Case#19 (M)* | n/a | n/a | Amplified | Wild type | n/a |
| Case#20 (P)* | n/a | Positive | n/a | n/a | TP53 (T140fs) (Y234C) |
| Case#21 (P)* | n/a | n/a | negative | Wild type | None |
| Case#22 (M)* | n/a | n/a | Amplified | Wild type | TP53 (R282W) |
| Case#23 (R)* | n/a | Positive | negative | Wild type | TP53 (G245S) |
| Case#24 (P)* | n/a | Positive | Amplified | EGFRvIII | n/a |
| Case#25 (P)* | n/a | Positive | Amplified | Wild type | TP53 (D281V) |
| Case#26 (M)* | n/a | Positive | Negative | Wild type | TP53 (R175H) |
| Case#27 (M) | n/a | Positive | Negative | Wild type | TP53 (V157F) |
| Case#28 (P) | n/a | Positive | n/a | Wild type | None |
| Case#29 (P) | n/a | Positive | n/a | Wild type | None |
| Case#30 (R) | n/a | n/a | n/a | n/a | None |
| Case#31 (P) | n/a | Positive | n/a | Wild type | TP53 (S99fs) |
| Case#32 (M) | n/a | n/a | Negative | Wild type | TP53 (R175H) |
| Case#33 (P) | Positive | n/a | n/a | Wild type | MLH1 |
| Case#34 (P) | Positive | Positive | n/a | Wild type | TP53 (L194R) ATM (T616I) |
| Case#35 (P) | Positive | Positive | Amplified | Wild type | TP53 (c.560–23_561del) TP53 (R273H) |
| Case#36 (M) | Negative | Positive | n/a | Wild type | n/a |
*
Gene expression profiling
IHC – immunohistochemistry; ISH – in situ hybridization; NGS – next-generation sequencing
P – Primary; R – recurrent; M – metastatic
n/a – not available
VUS – variant of unknown significance