Table 6.
Additional mutations in cutaneous metastases reported in different series.
| Authors | Paired Cases of Cutaneous Metastases n |
Cases with Additional Mutation | Additional Molecular Alterations in Cutaneous Metastases | |
|---|---|---|---|---|
| Schrijver and col. [41] | 8 * | 6 | 33 mutations (ATR, BRCA1, SMAD4, CDH1, ARID1A, ERBB2, IDH1, PIK3R1, RB1, etc.) and FGF3 amplification | |
| Yates and col. [39] | Cohort 1: 2 | 2 | 4 molecular alterations (FGFR1 amplification/TP53 structural variant, RB1 indel/TERC amplification) | |
| Cohort 2: 4 | 4 | 8 mutations (JAK2, NF1, TP53, AKT1, ARID1A, ARID1A, RB1) and 2 amplifications (MYC and FGFR1) | ||
| Paul and col. [42] | 1 | 1 | 54 mutations (PIK3CA, TP53, etc.) | |
| Present series | 33 | 12 TN | 6 mutations (TP53 + PIK3CA + COL1A1, PIK3CA, RB1, FGFR2, CTNNB1) and 3 amplifications (2 in MYC and one in MDM4) | |
| 17 | 16 RH + HER2- | 7 mutations (FGFR1 + NF1, BRCA2 + MKI67 + SF3B1, CASP8+ ERBB2) and 2 amplifications or polysomy (ERBB2 and MDM4) | ||
| 5 HER2+ | 2 mutations (KRAS, BRCA1), 4 amplifications or polysomy (CCND1, MYC, FGFR1 and MDM4) | |||
* Of these 8 cases, 2 had no additional molecular alterations in cutaneous metastasis.