Table 2.
Overview of the identified biomarkers in the 18 cases of extra‐mammary Paget's disease
| Case | Type | Location (biopsy site) | Age | Steroid receptors | HER2 status | PD‐L1 | TML | MSI status | Mutational profile* | Other findings |
|---|---|---|---|---|---|---|---|---|---|---|
| Extramammary Paget's Disease (vulva) (n = 13) | ||||||||||
| #1 | Advanced | Vulva | 49 | ER−/AR− | Negative | n/a | n/a | n/a | n/a | None |
| #2 | Primary | Vulva | 82 | ER+/AR+ | Negative | n/a | n/a | n/a | n/a |
Topo2α positive |
| #3 | Metastatic | Liver (primary site: vulva) | 64 | ER−/AR− | Positive (amplified) | Negative | n/a | n/a | w.t. | none |
| #4 | Metastatic | Lymph node (primary site: Vulva) | 51 | ER−/AR+ | Negative (not amplified) | Negative | 6 | Stable | w.t. | none |
| #5 | Metastatic | Lymph node (primary site: Vulva) | 43 | ER−/AR+ | Negative (not amplified) | Negative | 12 | Stable |
PIK3CA (H1047R) BCOR |
none |
| #6 | Primary | Vulva | 64 | ER−/AR+ | Positive but not amplified | Negative | n/a | n/a | TP53 (R248Q) |
Topo2α positive |
| #7 | Advanced | Vulva | 70 |
n/a ARv7 (−) |
Negative (not amplified) | Negative | 11 | Stable | TP53 (R248Q), PIK3CA amplified |
Topo2α positive |
| #8 | Advanced | Vulva | 55 |
ER−/AR+/ ARv7 (+) |
Positive (amplified) | Positive in IC | 12 | Stable | TP53 (Q192X), SETD2 (S845X and S1390x) | TOP2A amplified |
| #9 | Advanced | Vulva | 67 |
n/a ARv7 (−) |
Positive (amplified) | Negative | 6 | Stable | TP53, PIK3CA, BRCA1, RB1, MUTYH |
Topo2α positive |
| #10 | Advanced | Vulva | n/a |
ER−/AR+ ARv7 (−) |
Negative (not amplified) | Positive IC at the tumor interface | 3 | Stable | PIK3CA (R88Q) | TOP2A amplified |
| #11 | Advanced | Vulva | 62 | ER+/AR+ | Negative (not amplified) | Negative | n/a | n/a | n/a |
Topo2α positive |
| #12 | Advanced | Vulva | n/a |
ER−/AR+ ARv7 (−) |
Negative (not amplified) | Positive IC | 6 | Stable | SETD2 (S2148X) |
Topo2α positive |
| #13 | Primary | Vulva | 66 | ER−/AR+ | Negative (not amplified) | Negative | n/a | n/a | SETD2 (unclassified) |
Topo2α positive |
| Extra‐mammary Paget's Disease (scrotum/perineum/perianal) (n = 5) | ||||||||||
| #1 | Advanced | Scrotum | 79 | ER+/AR+ | Negative (not amplified) | n/a | n/a | n/a | PIK3CA (E545K) |
Topo2α positive |
| #2 | Recurrent |
Buttock/ perianal |
69 |
ER+/AR+ ARv7 (−) |
Positive (amplified) | Negative | 11 | Stable | TP53 (R280K), MUTYH (G393D) |
Topo2α positive |
| #3 | Metastatic | Axillary lymph node (scrotum) | 72 | ER−/AR− | Negative (not amplified) | Negative | 11 | Stable | TP53 (P152T) | None |
| #4 | Metastatic | Perineum | 75 | n/a | Negative (not amplified) | Negative | 11 | Stable | TP53 (c.376‐9_382del16), PIK3CA (H1047R), |
Topo2α positive |
| #5 | Metastatic | Axillary lymph node (scrotum) | 76 |
ER−/AR+ ARv7 (−) |
Negative (not amplified) | Negative | 4 | Stable | None | None |
*
Only pathogenic mutations are listed.