Table 2.
Patients with hypermutant tumors
| Kids First participant ID | Kids First biospecimen ID | CBTN ID | Phase of therapy | Composition | Therapy post-biopsy | Cancer predisposition | Pathogenic germline variant | TMB | OpenPBTA molecular subtype |
|---|---|---|---|---|---|---|---|---|---|
| PT_0SPKM4S8 | BS_VW4XN9Y7 | 7316-2640 | initial CNS tumor | solid tissue | radiation, temozolomide, CCNU | none documented | NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) (LP) | 187.4 | HGG, H3 wild type, TP53 activated |
| PT_3CHB9PK5 | BS_20TBZG09 | 7316-515 | initial CNS tumor | solid tissue | radiation, temozolomide, irinotecan, bevacizumab | CMMRD | NM_000179.3(MSH6):c.3439-2A>G (LP) | 307 | HGG, H3 wild type, TP53 loss |
| PT_3CHB9PK5 | BS_8AY2GM4G | 7316-2085 | progressive | solid tissue | radiation, temozolomide, irinotecan, bevacizumab | CMMRD | NM_000179.3(MSH6):c.3439-2A>G (LP) | 321.6 | HGG, H3 wild type, TP53 loss |
| PT_EB0D3BXG | BS_F0GNWEJJ | 7316-3311 | progressive | solid tissue | radiation, nivolumab | none documented | none detected | 26.3 | metastatic NBL, MYCN non-amplified |
| PT_JNEV57VK | BS_85Q5P8GF | 7316-2594 | initial CNS tumor | solid tissue | radiation, temozolomide | Lynch syndrome | NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) (P) | 4.7 | DMG, H3 K28, TP53 loss |
| PT_JNEV57VK | BS_HM5GFJN8 | 7316-3058 | progressive | derived cell line | radiation, temozolomide, nivolumab | Lynch syndrome | NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) (P) | 35.9 | DMG, H3 K28, TP53 loss |
| PT_JNEV57VK | BS_QWM9BPDY | 7316-3058 | progressive | derived cell line | radiation, temozolomide, nivolumab | Lynch syndrome | NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) (P) | 7.4 | DMG, H3 K28, TP53 loss |
| PT_JNEV57VK | BS_P0QJ1QAH | 7316-3058 | progressive | solid tissue | radiation, temozolomide, nivolumab | Lynch syndrome | NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) (P) | 6.3 | DMG, H3 K28, TP53 activated |
| PT_S0Q27J13 | BS_P3PF53V8 | 7316-2307 | initial CNS tumor | solid tissue | radiation, temozolomide, irinotecan | none documented | none detected | 15.5 | HGG, H3 wild type, TP53 activated |
| PT_VTM2STE3 | BS_ERFMPQN3 | 7316-2189 | progressive | derived cell line | unknown | Lynch syndrome | none detected | 5.7 | HGG, H3 wild type, TP53 loss |
| PT_VTM2STE3 | BS_02YBZSBY | 7316-2189 | progressive | solid tissue | unknown | Lynch syndrome | none detected | 274.5 | HGG, H3 wild type, TP53 activated |
Patients with at least one hypermutant or ultra-hypermutant tumor or cell line. Pathogenic or likely pathogenic germline variants, coding region TMB, phase of therapy, therapeutic interventions, cancer predisposition (constitutional mismatch repair deficiency), and molecular subtypes are included. P, pathogenic; LP, likely pathogenic; CMMRD, constitutional mismatch repair deficiency.