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Table 1 Nominal and actual results of the mutation analyses of KIT exons 9 and 11 and PDGFRA exon 18 performed in trial 1.

From: Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors

sample exon nominal result Lab A Lab Ba Lab Ca Lab D Lab Ea Lab F
T1.1 KIT 11 c.1670_1675del6       
   p.W557_V559delinsF    p.W557_K558del   p.W557_V559del  
T1.2 KIT 9 c.1510_1515dup6       
T1.3 KIT 11 c.1714_1740dup27       c.wild-type
   p.D572_H580dup       p.wild-type
T1.4 KIT 11 c.wild-type      c.1690_1692del  
   p.wild-type      p. N564del  
  PDGFRA 18 c.2527_2538del12    c.wild-type c.2464G>A c.wild-type  
   p.I843_D846del p.D842_H845del   p.wild-type p.R822H p.wild-type  
T1.5 KIT 9,11 c.wild-type       
  PDGFRA 18 p.wild-type       
T1.6 PDGFRA 18 c.2525A>T       c.wild-type
   p.D842V       p.wild-type
T1.7 KIT 9,11 c.wild-type       
  PDGFRA 18 p.wild-type       
T1.8 KIT 9,11 c.wild-type       
  PDGFRA 18 p.wild-type       
T1.9 KIT 9,11 c.wild-type       
  PDGFRA 18 p.wild-type       
T1.10 KIT 11 c.1676T>A      c.wild-type  
   p.V559D      p.wild-type  
  1. Only the nominal results of the relevant exons are given, other exons are wild-type; for the individual panel labs only the actual results differing from the nominal results are denoted on DNA and protein level; matching results are not shown.
  2. a changes in DNA sequence were not specified in Labs B, C and E