Table 1

The mutational profile and the allelic frequencies of 38 gastrointestinal stromal tumour cases

GeneCase no.ExonNucleotideCodonAllelic frequency (%)/case no.
KIT 2, 24, 389c.1509_1510insGCCTATp.Y503_F504insAY32%, 43%, 35%
KIT 26, 3611c.1651_1662del12p.P551_E554del52%, 65%
KIT 9, 2311c.1652_1654delCCAp.P551_M552>L51%, 49%
KIT 1311c.1665_1679del15p.V555_V560>V47%
KIT 2011c.1663_1716del53p.V555_D572del94%
KIT 811c.1666_1671delCAGTGGp.Q556_W557del47%
KIT 2211c.1669T>Gp.W557G41%
KIT 25, 3411c.1669_1674delTGGAAGp.W557_K558del52%, 43%
KIT 16*11c.1669_1680del12p.W557_V560del67%
KIT 3, 3511c.1669_1683del15p.W557_E561del86%, 90%
KIT 611c.1676T>Cp.V559A49%
KIT 1011c.1679T>Ap.V560D60%
KIT 3111c.1676T>Ap.V559D49%
KIT 1411c.1682T>Ap.V561D9%
KIT 7, 2911c.1727T>Cp.L576P66%, 50%
KIT 12, 15†13c.1924A>Gp.K642E60%, 48%
PDGFRA 5, 18, 27, 3018c.2525A>Tp.D842V39%, 55%, 40%, 51%
PDGFRA 3718c.2525_2534delinsCp.D842_H845delinsA57%
PDGFRA 19, 2818c.2527_2538del12p.I843_D846delIMHD39%, 54%
BRAF 16*11c.1405G>Ap.G469R6%
FGFR3 15†9c.1150T>Cp.F384L49%
KRAS 212c.35G>Ap.G12D70%
PIK3CA 179c.1633G>Ap.E545K37%
  • *Concomitant KIT/BRAF mutation (case 16).

  • †Concomitant KIT/FGFR3 mutation (case 15).