01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Concordance between PIK3CA mutations in endoscopic biopsy and surgically resected specimens of esophageal squamous cell carcinoma
- Zeitschrift:
- BMC Cancer > Ausgabe 1/2017
Background
Methods
Patients
Tissue samples
PIK3CA mutation analysis
Statistical analysis
Results
Patients
Characteristics
|
Number
|
Percent
|
---|---|---|
Age (mean ± SD)
|
62.7 ± 7.0
|
|
Gender
|
||
Male
|
150
|
82.9
|
Female
|
31
|
17.1
|
Smoking habit
|
||
Non-smoker
|
33
|
18.2
|
Smoker
|
148
|
81.8
|
Alcohol consumption
|
||
Non-drinker
|
33
|
18.2
|
Drinker
|
148
|
81.8
|
Location
|
||
Upper
|
26
|
14.4
|
Middle
|
83
|
45.9
|
Lower
|
72
|
39.8
|
T factor
|
||
1b
|
51
|
28.2
|
2
|
22
|
12.2
|
3
|
104
|
57.5
|
4
|
4
|
2.2
|
N factor
|
||
0
|
57
|
31.5
|
1
|
60
|
33.1
|
2
|
48
|
26.5
|
3
|
16
|
8.8
|
M factor
|
||
0
|
170
|
93.9
|
1
|
11
|
6.1
|
TNM stage
|
||
I
|
30
|
16.6
|
II
|
51
|
28.2
|
III
|
89
|
49.2
|
IV
|
11
|
6.1
|
Histological grade
|
||
W/D
|
38
|
21.0
|
M/D
|
120
|
66.3
|
P/D
|
23
|
12.7
|
Lymphatic invasion
|
||
Absent
|
89
|
49.2
|
Present
|
92
|
50.8
|
Venous invasion
|
||
Absent
|
36
|
19.9
|
Present
|
145
|
80.1
|
Frequency of PIK3CA mutations
Case
|
Endoscopic biopsy
|
Surgical resection
|
T factor
|
||
---|---|---|---|---|---|
Mutation
|
Histology
|
Mutation
|
Histology
|
||
8
|
E542K
|
M/D
|
Wild type
|
M/D
|
T3
|
50
|
E545K
|
M/D
|
E545K
|
M/D
|
T1b
|
61
|
Wild type
|
P/D
|
E545K
|
M/D
|
T4
|
66
|
H1047R
|
M/D
|
H1047R
|
P/D
|
T3
|
75
|
H1047R
|
M/D
|
H1047R
|
M/D
|
T3
|
87
|
E542K
|
M/D
|
E542K
|
M/D
|
T3
|
111
|
E545K
|
M/D
|
E545K
|
M/D
|
T3
|
114
|
E545K
|
M/D
|
E545K
|
M/D
|
T3
|
127
|
H1047R
|
M/D
|
H1047R
|
M/D
|
T3
|
132
|
Wild type
|
M/D
|
H1047R
|
M/D
|
T1b
|
140
|
H1047L
|
M/D
|
H1047L
|
M/D
|
T3
|
163
|
H1047R
|
M/D
|
H1047R
|
M/D
|
T3
|
166
|
H1047R
|
M/D
|
H1047R
|
W/D
|
T1b
|
Characteristics
|
PIK3CA mutation status
|
P value
|
|||
---|---|---|---|---|---|
Wild-type
|
Mutant
|
||||
Number
|
%
|
Number
|
%
|
||
Mean age ± SD
|
62.8 ± 7.1
|
61.9 ± 5.6
|
0.643
|
||
Gender
|
0.469
|
||||
Male
|
140
|
83.3
|
10
|
76.9
|
|
Female
|
28
|
16.7
|
3
|
23.1
|
|
Smoking status
|
0.468
|
||||
Non-smoker
|
32
|
19.0
|
1
|
7.7
|
|
Smoker
|
136
|
81.0
|
12
|
92.3
|
|
Alcohol consumption
|
1.000
|
||||
Non-drinker
|
14
|
8.3
|
1
|
7.7
|
|
Drinker
|
154
|
91.7
|
12
|
92.3
|
|
Location
|
1.000
|
||||
Upper/Middle
|
101
|
60.1
|
8
|
61.5
|
|
Lower
|
67
|
39.9
|
5
|
38.5
|
|
T factor
|
0.247
|
||||
1–2
|
70
|
41.7
|
3
|
23.1
|
|
3–4
|
98
|
58.3
|
10
|
76.9
|
|
Lymph node metastases
|
1.000
|
||||
Absent
|
52
|
31.0
|
4
|
30.8
|
|
Present
|
116
|
69.0
|
9
|
69.2
|
|
TNM stage
|
0.775
|
||||
I-II
|
76
|
45.2
|
5
|
38.5
|
|
III-IV
|
92
|
54.8
|
8
|
61.5
|
|
Histological differentiation
|
1.000
|
||||
W/D, M/D
|
146
|
86.9
|
12
|
92.3
|
|
P/D
|
22
|
13.1
|
1
|
7.7
|
|
Lymphatic invasion
|
0.400
|
||||
Absent
|
81
|
48.2
|
8
|
61.5
|
|
Present
|
87
|
51.8
|
5
|
38.5
|
|
Venous invasion
|
0.470
|
||||
Absent
|
35
|
20.8
|
1
|
7.7
|
|
Present
|
133
|
79.2
|
12
|
92.3
|
Concordance analysis
Surgically resected specimens (reference method)
|
||||
---|---|---|---|---|
Wild type
|
Mutant type
|
Total
|
||
Endoscopic biopsy specimens (trial method)
|
Wild type
|
168
|
2
|
170
|
Mutant type
|
1
|
10
|
11
|
|
Total
|
169
|
12
|
181
|
|
Overall concordance rate
|
98.3% (95% CI: 95.2–99.7)
|
|||
Positive concordance rate
|
83.3% (95% CI: 51.6–97.9)
|
|||
Negative concordance rate
|
99.4% (95% CI: 96.7–99.9)
|
|||
Positive predictive value
|
90.9% (95% CI: 58.7–99.8)
|
|||
Negative predictive value
|
98.8% (95% CI: 95.8–99.9)
|
Surgically resected specimens (reference method)
|
||||||
---|---|---|---|---|---|---|
E542K
|
E545K
|
E546Q
|
H1047R
|
H1047L
|
||
Endoscopic biopsy specimens (trial method)
|
E542K
|
1
|
0
|
0
|
0
|
0
|
E545K
|
0
|
3
|
0
|
0
|
0
|
|
E546Q
|
0
|
0
|
0
|
0
|
0
|
|
H1047R
|
0
|
0
|
0
|
5
|
0
|
|
H1047L
|
0
|
0
|
0
|
0
|
1
|