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Table 2 Immunohistochemical and genetic findings of double primary mutant GISTs

From: Clinicopathological and mutational characteristics of primary double mutant gastrointestinal stromal tumor: a single center study with review of the literature

 

Immunohistochemistry

Ki−67

KIT/PDGFRA mutation analysis

Case

CD117

CD34

DOG−1

SMA

Desmin

S−100

Mutations

Allelic distribution

1

+

+

+

-

-

-

5–8%

KIT exon 11 p.V559D + exon13 p.K642E

NA

2

+

-

+

+, scattered

-

-

10%

KIT exon 11 W557R + D579del

trans

3

+

+

+

-

-

+, scattered

1%

KIT exon 11 V569_L576del + exon 13 M651L

KIT exon 3 L138fs* + exon 13 K642fs*

NA

4

+

ND

-

+, focal

-

-

10%

KIT exon 11 V559A + exon 13 I653fs

NA

5

+

+

+

-

-

-

10–15%

KIT exon 11 V560G + D579A

cis

6

+

+

+

+, scattered

-

-

5–10%

KIT exon 11 V559D + V559G

NA

7

+

+, focal

+

+, focal

-

-

5%

KIT exon 13 K642E + exon 17 S821C

NA

8

+

+

+

-

-

-

5–10%

KIT exon 9 A502_Y503dup + exon 11 W557_V560delinsC

NA

  1. NA, not available;
  2. *The mutations were only present in a proportion of the DNA molecules identified by NGS (AF < 10%).