Table 1 Summary of molecular findings

MAP3K8::ABLIM1

exon 7:exon 5 NM_001244134.1/NM_001322885.1

Mutations

 Pathogenic Variants

  TERT

c.-146 C > T 52 NM_198253.2

  TP53

c.659_672 + 44del58 29 NM_000546.5

 Likely Pathogenic Variants

  GRIN2A

p.S929F 14 c.2786 C > T 20 NM_000833.4

 Variants of Unknown Significance

  PLCG2

c.3756–3 C > T Splice region variant

  APOB

c.8524G > A p.E2842K Missense variant

  SPEN

c.698 C > A p.P233Q Missense variant

  ETV5

c.1343T > A p.V448D Missense variant

  SYNE1

c.5045 A > G p.E1682G Missense variant

  FANCL

c.857T > C p.L286S Missense variant

  POLQ

c.5944T > G p.L1982V Missense variant

  CASR

c.1553G > A p.G518E Missense variant

  NRG1

c.1747G > A p.E583K Missense variant

  GATA1

c.113 C > T p.P38L Missense variant

 Copy Number Loss

  CDKN2A

  MTAP

Tumor mutation burden (TMB)

Low (3 mut/Mb)