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Table 3 Associations of ESR1 fusions with clinical parameters in prognostic clinical cohort

From: The prognostic and predictive value of ESR1 fusion gene transcripts in primary breast cancer

  

LNN ESR + Prognostic cohort

Parameters

 

n

at least one ESR1-CCDC170

(exon 2 to 8) fusion

P-value

ESR1-CCDC170 (exon 2) fusion

P-value

ESR1-CCDC170 (exon 8) fusion

P-value

ESR1-AKAP12

P-value

   

n

%

 

n

%

 

n

%

 

n

%

 

All patients

279

70

25.1%

 

33

11.8%

 

39

14.0%

 

5

1.8%

 

Age at primary surgery

   ≤ 40 years

29

6

20.7%

0.001

4

13.8%

0.38

4

13.8%

0.26

1

3.4%

0.27

  41–50 years

81

11

13.6%

 

5

6.2%

 

5

6.2%

 

0

0.0%

 

  51–70 years

125

36

28.8%

 

16

12.8%

 

21

16.8%

 

3

2.4%

 

   > 70 years

44

17

38.6%

 

8

18.2%

 

9

20.5%

 

1

2.3%

 

Menopausal status

  Premenopausal

120

19

15.8%

0.002

10

8.3%

0.12

11

9.2%

0.044

1

0.8%

0.29

  Postmenopausal

159

51

32.1%

 

23

14.5%

 

28

17.6%

 

4

2.5%

 

Surgery type

  Lumpectomy

178

44

24.7%

0.85

19

10.7%

0.43

25

14.0%

0.97

4

2.2%

0.45

  Ablation

101

26

25.7%

 

14

13.9%

 

14

13.9%

 

1

1.0%

 

Radiotherapy

  No

84

24

28.6%

0.38

14

16.7%

0.10

12

14.3%

0.92

1

1.2%

0.62

  Yes

195

46

23.6%

 

19

9.7%

 

27

13.8%

 

4

2.1%

 

Nodal status

  No lymph nodes

279

70

25.1%

 

33

11.8%

 

39

14.0%

 

5

1.8%

 

  Positive lymph nodes

0

0

  

0

  

0

  

0

  

  Tumor outside lymph nodes

0

0

  

0

  

0

  

0

  

Pathological Tumor classification

  pT1

151

34

22.5%

0.28

17

11.3%

0.61

16

10.6%

0.08

2

1.3%

0.1

  pT2 + unknown

119

32

26.9%

 

14

11.8%

 

20

16.8%

 

2

1.7%

 

  pT3 + pT4

9

4

44.4%

 

2

22.2%

 

3

33.3%

 

1

11.1%

 

Tumor grade

  Poor

131

36

27.5%

0.60

21

16.0%

0.06

21

16.0%

0.56

3

2.3%

0.84

  Unknown

81

20

24.7%

 

9

11.1%

 

11

13.6%

 

1

1.2%

 

  Moderate/Good

67

14

20.9%

 

3

4.5%

 

7

10.4%

 

1

1.5%

 

Tumor cell content

  30–49%

31

9

29.0%

0.82

6

19.4%

0.38

4

12.9%

0.86

1

3.2%

0.81

  50–70%

69

16

23.2%

 

7

10.1%

 

11

15.9%

 

1

1.4%

 

   > 70%

179

45

25.1%

 

20

11.2%

 

24

13.4%

 

3

1.7%

 

Hormone/ growth factor status (RT-qPCR)

  ESR1 negative

0

0

  

0

  

0

  

0

  

  ESR1 positive

279

70

25.1%

 

33

11.8%

 

39

14.0%

 

5

1.8%

 

  PR negative

62

16

25.8%

0.88

9

14.5%

0.46

8

12.9%

0.78

2

3.2%

0.93

  PR positive

217

54

24.9%

 

24

11.1%

 

31

14.3%

 

3

1.4%

 

  HER2 non-amplified

233

62

26.6%

0.15

29

12.4%

0.30

34

14.6%

0.61

4

1.7%

0.78

  HER2 amplified

43

7

16.3%

 

3

7.0%

 

5

11.6%

 

1

2.3%

 

  CCDC170 negative

26

4

15.4%

0.23

2

7.7%

0.49

3

11.5%

0.70

0

0.0%

0.47

  CCDC170 positive

252

66

26.2%

 

31

12.3%

 

36

14.3%

 

5

2.0%

 

Disease-free interval

  ≤ 1 year disease-free

20

7

35.0%

0.011

2

10.0%

0.08

4

20.0%

0.006

0

0.0%

0.57

  1–3 years disease-free

71

18

25.4%

 

10

14.1%

 

14

19.7%

 

2

2.8%

 

   > 3 years disease-free

188

45

23.9%

 

21

11.2%

 

21

11.2%

 

3

1.6%

 

Adjuvant endocrine therapy

  No

279

66

23.7%

 

33

11.8%

 

39

14.0%

 

5

1.8%

 

  Yes

0

0

  

0

  

0

  

0

  

Adjuvant chemotherapy

  No

279

66

23.7%

 

33

11.8%

 

39

14.0%

 

5

1.8%

 

  Yes

0

0

  

0

  

0

  

0

  
  1. ESR1 estrogen receptor alpha, CCDC170 coiled-coil domain containing 170, AKAP12 A-Kinase Anchoring Protein 12 gene, ESR1-CCDC170 ESR1-CCDC170 gene fusion, ESR1-AKAP12 ESR1-AKAP12 gene fusion, pT primary tumor, pT1 small primary tumor (tumour is 2 cm across or less), pT2 tumour more than 2 cm but no more than 5 cm across, pT3 T3 tumour bigger than 5 cm across, pT4 tumor with phatological stage, RT-qPCR Quantitative Real-Time Polymerase Chain Reaction, PR progesterone receptor, HER2 human epidermal growth factor receptor
  2. Statistically significant differences are indicated in bold