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Table 2 Variants identified in Classic and Rhabdomyosarcomatous (Rhabdo) GIST components

From: Case report of rhabdomyosarcomatous transformation of a primary gastrointestinal stromal tumor (GIST)

Gene Nucleotide Change Amino Acid Change Consequence VAF Classic GIST VAF Rhabdo GIST
KIT NM_000222.2:c.1670_1675delGGAAGG (6 nt) Trp557_Val559delinsPhe Inframe deletion 91.1 50.7
TP53 NM_000546.5:c.215C > G Pro72Arg missense 43 54.7
PDGFRA NM_006206.4:c.2472C > T none synonymous 4.6 (ND) 25.4
KIT NM_000222.2:c.2586G > C none synonymous 4.2 (ND) 26.0
PDGFRA NM_006206.4:c.1701A > G none synonymous 99.8 99.8
APC NM_000038.5:c.4479G > A none synonymous 51.2 49.9
EGFR NM_005228.3:c.2361G > A none synonymous 93.8 70.8
MET NM_001127500.1:c.1131C > T none synonymous 99.6 99.5
  1. Gene, nucleotide change, amino acid change, consequence and variant allele frequencies (VAF) are shown. ND Not detected. The limit of detection for this assay is 5%, so VAFs below this threshold are not presented