Table 1.
Clinical and genomic characteristics of metastatic pediatric MiT-RCC
| Case | Age at diagnosis (years) | SNV/Indels (no.) | Recurrent and/or special SNV/Indel | CNA | Chr. losses/gains | Immune-gene expression | Possible drug targets | Outcome (months) | Drug treatment/response, time to progression (TTP) |
|---|---|---|---|---|---|---|---|---|---|
| RCC544_I RCC544_II | 1 | I: 20/4, II: 21/0 |
I: MAP4K1, ACSBG2_ II: MLH3, CHEK2, ANKRD17 I/II: VWDE |
≤ 2 chr | No | PD-L1+, PD-1++, CTLA4+++, TiM3/LAG3+++ | RET, MAP4K1 | DOD (132) | IT/CT, Sunitinib, PBSCT, Vacc, Sorafenib/→PR/SD 6 years, Axitinib/Nivolumab→PD |
| RCC4039 | 3 | 16/1 | LRRK2, FIG4 | Not evaluable | Not evaluable | No RNA available | Alive NED (248) |
INFa/IL2/capecitabine/→PR →Surgery → CR | |
| RCC450 | 10 | No matched DNA | TP53 | ≥8 chr. | 1p, 3p, 4q, 9p, 11, 14, 15, 17p, 18//gain 17q | No RNA available | DOD (12) | sunitinib/→MR TTP 3 months, --> everolimus → PD |
|
| RCC751 | 16 | 62/22 | LRRK2, VWF, CCDC168, UGGT1, COL18A1, GLDN, MAP4K3, ACSM3 |
≥8 chr. | 1p, 3p, 4, 9p, q, 11, 18, 22// Gains 8, 12, 20q |
PD-L1+++, PD-1−, CTLA4−, TiM3−, LAG3(+) | MET, RET, B7-H3, MAP4K3 | DOD (19) | Sunitinib /→PR?/SD TTP 3 months, → PBSCT, Axitinib → PD |