Primary Driver Mutations in GTF2I Specific to the Development of Thymomas
Abstract
:1. Introduction
2. Results
2.1. Patient Characteristics
2.2. Targeted Sequencing
2.3. PyClone Analysis
2.4. PD-L1 Expression
2.5. Correlation between the Clinical Factors and Genomic Profiles of Patients
2.6. Peripheral Blood Parameters
2.7. Specificity of GTF2I Mutations in Thymoma
3. Discussion
4. Methods
4.1. Patient Cohort and Sample Preparation
4.2. Targeted Deep Sequencing and Data Analysis
4.3. Molecular Barcoding
4.4. PyClone Analysis
4.5. Immunohistochemistry for PD-L1
4.6. Presence or Absence of Gtf2i Mutation in Other Malignant Diseases
4.7. Statistical Analyses
5. Conclusions
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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Parameter | Number of Patients | Overall Percentage | |
---|---|---|---|
Total number | 22 | ||
Age (years), median (range) | 66 (42–81) | ||
Sex | |||
Male | 12 | 54.5% | |
Female | 10 | 45.5% | |
Histology | |||
Type A | 5 | 22.7% | |
Type AB | 3 | 13.6% | |
Type B1 | 7 | 31.8% | |
Type B2 | 5 | 22.7% | |
Type B3 | 2 | 9.1% | |
Tumor size (cm) | |||
≤ 3 | 9 | 40.9% | |
3 < size ≤ 5 | 9 | 40.9% | |
5< | 4 | 18.2% | |
Masaoka Stage | |||
I | 7 | 31.8% | |
II | 12 | 54.5% | |
III | 2 | 9.1% | |
IV | 1 | 4.5% | |
Smoking Status (B.I.) a | |||
0 | 8 | 36.4% | |
1 < B.I. ≤ 600 | 10 | 45.5% | |
600< | 4 | 18.2% | |
Myasthenia gravis | |||
+ | 1 | 4.5% | |
− | 21 | 95.5% |
Patient | Age | Sex | Masaoka Stage | Histology | GTF2I AF b (%) | Coverage (Nucleotides) | PD-L1 (%) |
---|---|---|---|---|---|---|---|
1 | 71 | M a | I | A | 40.6 | 1651 | 1< |
2 | 65 | M | I | A | 45.7 | 1793 | 0 |
3 | 80 | F a | III | A | 66.7 | 1801 | 0 |
4 | 65 | M | I | A | 36.3 | 3401 | 30 |
5 | 68 | F | II | A | 42.8 | 3343 | 80 |
6 | 76 | M | II | AB-A | 34.3 | 2149 | 0 |
AB-B | 11.4 | 2780 | 3 | ||||
7 | 62 | M | I | AB-A | 35.8 | 2675 | 0 |
AB-B | 9.4 | 2342 | 0 | ||||
8 | 45 | F | I | AB-A | 38.8 | 7557 | 0 |
AB-B | 16.0 | 6065 | 10 | ||||
9 | 42 | F | II | B1 | 4.5 | 5639 | 0 |
10 | 76 | F | II | B1 | 5.0 | 1623 | 1 |
11 | 48 | F | II | B1 | 2.0 | 1867 | 0 |
12 | 73 | M | II | B1 | N.D c | − | |
13 | 46 | M | II | B1 | 4.3 | 5158 | 7 |
14 | 76 | F | II | B1 | N.D | − | 70 |
15 | 66 | M | II | B1 | N.D | − | 55 |
16 | 76 | M | I | B2 | N.D | − | 70 |
17 | 65 | M | II | B2 | 14.1 | 1652 | 70 |
18 | 53 | F | I | B2 | N.D | − | 50 |
19 | 67 | M | IV | B2 | N.D | − | 70 |
20 | 44 | F | II | B2 | N.D | − | 60 |
21 | 81 | M | III | B3 | N.D | − | 90 |
22 | 81 | F | II | B3 | 40.5 | 9140 | 80 |
Type of Malignancy | Age (Mean ± SD) | Sex (Male/Female) | Frequency of Mutant GTF2I |
---|---|---|---|
Brain cancer | 51.0 ± 15.5 | 12/8 | 0/20 |
Lung cancer | 69.4 ± 8.6 | 13/7 | 0/20 |
Gastric cancer | 71.2 ± 11.5 | 11/9 | 0/20 |
Colorectal cancer | 65.8 ± 10.6 | 13/7 | 0/20 |
Hepatocellular carcinoma | 68.2 ± 11.0 | 19/1 | 0/20 |
Breast cancer | 52.7 ± 12.6 | 0/20 | 0/20 |
Lymphoma | 58.9 ± 14.1 | 12/8 | 0/20 |
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Higuchi, R.; Goto, T.; Hirotsu, Y.; Yokoyama, Y.; Nakagomi, T.; Otake, S.; Amemiya, K.; Oyama, T.; Mochizuki, H.; Omata, M. Primary Driver Mutations in GTF2I Specific to the Development of Thymomas. Cancers 2020, 12, 2032. https://doi.org/10.3390/cancers12082032
Higuchi R, Goto T, Hirotsu Y, Yokoyama Y, Nakagomi T, Otake S, Amemiya K, Oyama T, Mochizuki H, Omata M. Primary Driver Mutations in GTF2I Specific to the Development of Thymomas. Cancers. 2020; 12(8):2032. https://doi.org/10.3390/cancers12082032
Chicago/Turabian StyleHiguchi, Rumi, Taichiro Goto, Yosuke Hirotsu, Yujiro Yokoyama, Takahiro Nakagomi, Sotaro Otake, Kenji Amemiya, Toshio Oyama, Hitoshi Mochizuki, and Masao Omata. 2020. "Primary Driver Mutations in GTF2I Specific to the Development of Thymomas" Cancers 12, no. 8: 2032. https://doi.org/10.3390/cancers12082032