Table 2.

CSF cancer panel sequencing identifies somatic SNV mutations from the CSF of a patient with leptomeningeal disease (L1).

Mutation typeGeneChromosomePositionReference alleleMutant alleleMutant AF
Nonsynonymous SNVEGFR755259515TG0.315
Nonsynonymous SNVTP53177579349AC0.178
Synonymous SNVKMT2Da1249444973TA0.167
Nonsynonymous SNVNSD15176722183AC0.083
Nonsynonymous SNVCREB3L11146329492AT0.076
Nonsynonymous SNVTPR1186324685CA0.075
Nonsynonymous SNVTSC2162121589TG0.072
  • a KMT2D, lysine (K)-specific methyltransferase 2D; NSD1, nuclear receptor binding SET domain protein 1; CREB3L1, cAMP responsive element binding protein 3-like 1; TPR, translocated promoter region, nuclear basket protein; TSC2, tuberous sclerosis 2.