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Table 3 Detection of known pathogenic mutations carried by the GIST samples analyzed as evidenced by exome sequencing in FF and FFPE samples

From: Whole exome sequencing (WES) on formalin-fixed, paraffin-embedded (FFPE) tumor tissue in gastrointestinal stromal tumors (GIST)

Patient

Chr:Position

GENE

cDNA

PROTEIN

FF Ref_Cov/Alt_Cov (Ratio)

FFPE Ref_Cov/Alt_Cov (Ratio)

PB Ref_Cov/Alt_Cov (Ratio)

GIST174

4:55593661

KIT

c.T1727C

p.L576P

2/160 (98.8 %)

12/236 (95.2 %)

116/0 (0 %)

GIST165

4:55152093

PDGFRA

c.A2525T

p.D842V

109/35 (24.3 %)

57/32 (36.0 %)

110/0 (0 %)

GIST193

5:235345

SDHA

c.C1151G

p.S384X

4/50 (92.6 %)

5/38 (88.4 %)

23/24 (51.1 %)

  1. Ref reference, Alt alternative, Cov Coverage