Skip to main content

Table 1 Clinicopathologic and genetic features of the investigated GISTs

From: Preferential MGMT methylation could predispose a subset of KIT/PDGFRA-WT GISTs, including SDH-deficient ones, to respond to alkylating agents

GIST no.

Age at diagnosis (years)

Sex

Site

Morphology

Genotype

NF1

SDHB IHC

MGMT methylation status

MGMT IHC score

KIT

PDGFRA

BRAF

KRAS

SDHx

1

64

F

Stomach

Sa

Exon 11 p.E554_K558 (c.1660_1674del15)

WTb

NAc

NA

NA

Nd

NA

Ue

NA

2

86

F

Stomach

M

Exon 11 p.H580_K581ins9 (c.1740_1741ins27)

WT

NA

NA

NA

N

POSf

U

NA

3

67

F

Stomach

S

Exon 11 p.W557>G (c. 1669 T>G)

WT

WT

NA

NA

N

POS

U

3

4

91

F

Stomach

S

Exon 11 W557_K558del (c.1669_1674delTGGAAG)

WT

WT

NA

NA

N

POS

U

3

5

72

M

Stomach

S

Exon 11 W557R (c.1669 T>A)

WT

WT

NA

NA

N

POS

U

2

6

68

M

Stomach

S

Exon 11 p.V555_Q556del (c.1663_1668delGTACAG)

WT

NA

NA

NA

N

NA

U

NA

7

63

F

Stomach

M

Exon 11 p.D579_W582del12 (c.1735_1746del12)

WT

NA

NA

NA

N

NA

U

NA

8

74

M

Stomach

S

Exon 11 p.N566_Q575del (c.1696_1725del30)

WT

NA

NA

NA

N

NA

U

NA

9

49

F

Stomach

S

Exon 11 p.V559D (c.1676 T>A)

WT

NA

NA

NA

N

POS

M

1

10

39

F

Ileum

M

Exon 11 p.V560D (c.1679 T>A)

WT

NA

NA

NA

N

NA

U

NA

11

80

F

Jejunum

S

Exon 11 p.W557_K558del (c.1669_1674delTGGAAG)

WT

NA

NA

NA

N

NA

U

NA

12

51

M

Ileum

S

Exon 11 p.M552_W557 del (c.1653_1670del18)

WT

NA

NA

NA

N

POS

U

3

13

64

F

Jejunum

S

Exon 9 p.Y503_F504insYA (c.1509_1510insGCCTAT)

WT

NA

NA

NA

N

NA

U

NA

14

67

F

Stomach

S

Exon 9 p.Y503_F504insYA (c.1509_1510insGCCTAT)

WT

NA

NA

NA

N

NA

U

NA

15

47

M

Stomach

E

WT

Exon 18 p.D842V (c.2525A>T)

NA

NA

NA

N

NA

U

NA

16

74

M

Stomach

M

WT

Exon 18 p.D842V (c.2525A>T)

WT

NA

NA

N

NA

U

NA

17

57

F

Stomach

S

WT

Exon 18 p.D842V (c.2525A>T)

NA

NA

NA

N

POS

U

2

18

62

M

Jejunum

M

WT

Exon 18 p.D842V (c.2525A>T)

WT

NA

NA

N

POS

U

3

19

53

M

Stomach

E

WT

Exon 18 p.I843_D846delIMHD (c.2527_2538del12)

NA

NA

NA

N

NA

U

NA

20

77

F

Stomach

M

WT

Exon 18 p.D842V (c.2525A>T)

NA

NA

NA

N

NA

U

NA

21h

66

M

Stomach (multifocal)

E

WT

Exon 14 p.P653L (c.1957_1958CC>TT) germline

NA

NA

NA

N

POS

U

2

22i

67

M

Jejunum

S

Exon 11 p.Q556_W557delinsR (c.1667_1669delAGT) somatic

Exon 14 p.P653L (c.1957_1958CC>TT) germline

NA

NA

NA

N

NA

U

NA

23

78

M

Stomach

E

WT

Exon 12 p.V561D (c.1682 T>A)

NA

NA

NA

N

NA

U

NA

24

42

M

Stomach

E

WT

Exon 12 p.V561D (c.1682 T>A)

NA

NA

NA

N

POS

U

NA

25

68

M

Stomach

M

WT

WT

WT

WT

NA

N

POS

U

1

26

41

F

Pericolic

M

WT

WT

WT

WT

NA

N

POS

U

3

27

61

F

Jejunum

S

WT

WT

WT

WT

NA

N

POS

U

3

28

52

M

Duodenum-Jejunum

S

WT

WT

WT

WT

NA

N

POS

M

1

29

46

F

Small bowel NOSg

S

WT

WT

WT

WT

NA

Y

POS

U

2

30

67

F

Duodenum

S

WT

WT

WT

WT

NA

N

POS

U

3

31

73

M

Ileum

S

WT

WT

WT

WT

NA

N

POS

M

1

32

73

F

Stomach

S

WT

WT

WT

WT

NA

N

POS

M

1

33

48

M

Stomach

S

WT

WT

WT

WT

NA

Y

POS

M

3

34

64

F

Jejunum

S

WT

WT

WT

WT

NA

Y

POS

U

NA

35

Jejunum

S

WT

WT

WT

WT

NA

POS

U

NA

36

Jejunum

S

WT

WT

WT

WT

NA

POS

U

NA

37

57

M

Duodenum

S

WT

WT

WT

WT

NA

N

POS

U

3

38

65

F

Ileum

S

WT

WT

WT

WT

NA

N

POS

U

3

39

34

M

Stomach

E

WT

WT

WT

WT

NA

N

POS

M

NA

40 j

28

F

Stomach

M

WT

WT

WT

WT

SDHA Exon 9 p.S384X (c.1151C>G) heterozygous germline and homozygous somatic

N

NEG

M

NA

41 j

30

M

Stomach

M

WT

WT

WT

WT

SDHA Exon 2 p.R31X (c.91C>T) heterozygous germline and Exon 13 p.R589W (c.1765C>T) heterozygous somatic

N

NEG

M

NA

42

21

F

Stomach

S

WT

WT

WT

WT

SDHA Exon5 p.R171H (c.G512G>A) heterozygous germline and homozygous somatic

N

NEG

U

NA

43

60

F

Stomach (multifocal)k

M

WT

WT

WT

WT

SDHA Exon1 p.R9Q (c.26G>A) heterozygous somatic and Exon 13 p.Q577K (c.1729 C>A) heterozygous somatic

N

NEG

U

3

44

48

F

Stomach

E

WT

WT

WT

WT

SDHA Exon9 p.G419R (c.1255G>A) heterozygous somatic

N

NEG

M

1

45

82

F

Stomach

E

WT

WT

WT

WT

SDHA Exon10 p.R465Q (c.1394G>A) homozygous somatic

N

NEG

M

3

46

28

M

Stomach

E

WT

WT

WT

WT

SDHB Exon6 p.M213R (c.638 T>G) homozygous somatic

N

NEG

M

1

47

49

F

Stomach

E

WT

WT

WT

WT

SDHC Exon4 p.G75D (c. 224G>A) heterozygous somatic

N

NEG

U

3

48

27

F

Stomach

M

WT

WT

WT

WT

SDHA Exon9 p.G419R (c. 1255G>A) heterozygous (germline not tested)

N

NEG

M

NA

  1. aS spindle cell, E epithelioid, M mixed spindle cell and epithelioid. bWild type. cNA not assessed. dY yes. N no. eM methylated. U unmethylated. fPOS positive. NEG negative. gNOS not otherwise specified. hPreviously published [22]. iPreviously published [27]. jPreviously published [26]. kDNA analyzed in one of the two tumors available; the DNA from the other one was degraded