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Table 2 Correlation of KIT/PDGFRA genotype between tissue and plasma

From: Clinical value of next generation sequencing of plasma cell-free DNA in gastrointestinal stromal tumors

   

cfDNA genotype (%AF)

Patient ID

Cohort

Tissue genotype

Primary mut.

Resistance mut.

   

NGS

ddPCR

NGS

ddPCR

1

A

KIT W557R

0

0

N.A.

N.A.

2

A

KIT L576P

0

0

N.A.

N.A.

3

A

PDGFRA D842V

0

0

N.A.

N.A.

4

A

PDGFRA D842_D846

0

0

N.A.

N.A.

5

A

PDGFRA V561D

0

0

N.A.

N.A.

6

A

KIT Y568_L576

0

0

N.A.

N.A.

7

A

KIT K550_K558

0

1.5

N.A.

N.A.

8

A

KIT Q556_K558

12.3

15.2

N.A.

N.A.

9

A

KIT W557_K558 + N822K

0

0

0

0

10

A + B

KIT M552_E554 + D820Y

0

0

0

0

11

A + B

KIT V559del + D816V

1.2

0.5

1

0

12

A + B

KIT V555_V560

0

0.9

N.A.

N.A.

13

A + B

KIT T557_D572

0

1.2

N.A.

N.A.

14

B

KIT p.W557R

0

0.3

N.A.

N.A.

15

B

KIT V555_K558

0

0

N.A.

N.A.

16

B

KIT V559_L576

1.9

9.5

N.A.

N.A.

17

B

PDGFRA V561D

1.3

0.4

N.A.

N.A.

18

B

KIT Q556_E561

6

4.9

N.A.

N.A.

  1. Abbreviations: cfDNA cell free DNA, AF allele frequency, mut mutation, NGS next generation sequencing, ddPCR droplet digital PCR, N.A. not applicable