Table 1:
Frequency of non-silent EGFR mutations in The Cancer Genome Atlas (TCGA) (https://portal.gdc.cancer.gov/). (Total N = 7,099 patients)
| All patients N |
EGFR-mutated patients N (% of patients) |
EGFR exon 20 altered patients N (% of patients) |
|
|---|---|---|---|
| All tumor types | 7,099 | 398 (6%) | 44 (1%) |
| Colon adenocarcinoma | 154 | 75 (49%) | 22 (14%)* |
| Glioblastoma multiforme | 290 | 74 (26%) | 5 (2%) |
| Lung adenocarcinoma | 230 | 72 (31%) | 6 (3%) |
| Lower Grade Glioma | 286 | 35 (12%) | 1 (0%) |
| Cutaneous Melanoma | 343 | 20 (6%) | 0 (0%) |
| Head/Neck squamous cell carcinoma | 279 | 20 (7%) | 0 (0%) |
| Stomach adenocarcinoma | 289 | 19 (7%) | 0 (0%) |
| Rectum adenocarcinoma | 69 | 9 (13%) | 2 (3%) |
| Endometrial Carcinoma | 248 | 8 (3%) | 0 (0%) |
| Bladder Urothelial Carcinoma | 130 | 7 (5%) | 0 (0%) |
| Diffuse Large B-cell Lymphoma | 48 | 7 (15%) | 0 (0%) |
| Kidney renal clear cell carcinoma | 417 | 6 (1%) | 1 (0%) |
| Ovarian serous adenocarcinoma | 316 | 6 (2%) | 1 (0%) |
| Hepatocellular carcinoma | 198 | 6 (3%) | 3 (2%) |
| Lung squamous cell carcinoma | 178 | 6 (3%) | 0 (0%) |
| Breast invasive carcinoma | 977 | 5 (1%) | 0 (0%) |
| Cervical squamous cell & adenocarcinoma | 194 | 5 (3%) | 1 (1%) |
| Esophageal carcinoma | 185 | 5 (3%) | 0 (0%) |
| Prostate adenocarcinoma | 332 | 3 (1%) | 0 (0%) |
| Sarcoma | 247 | 2 (1%) | 0 (0%) |
| Acute Myeloid Leukemia | 197 | 2 (1%) | 0 (0%) |
| Adrenocortical carcinoma | 90 | 2 (2%) | 0 (0%) |
| Kidney renal papillary cell carcinoma | 161 | 1 (1%) | 0 (0%) |
| Pancreatic adenocarcinoma | 150 | 1 (1%) | 1 (1%) |
| Testicular Germ Cell Tumors | 149 | 1 (1%) | 0 (0%) |
| Cholangiocarcinoma | 35 | 1 (3%) | 1 (3%) |
| Thyroid carcinoma | 402 | 0 (0%) | 0 (0%) |
| Pheochromocytoma/Paraganglioma | 179 | 0 (0%) | 0 (0%) |
| Thymoma | 123 | 0 (0%) | 0 (0%) |
| Uveal Melanoma | 80 | 0 (0%) | 0 (0%) |
| Kidney Chromophobe | 66 | 0 (0%) | 0 (0%) |
| Uterine Carcinosarcoma | 57 | 0 (0%) | 0 (0%) |
| Description of the EGFR alterations observed (N (%)) | |||
| All EGFR non-silent mutations | 605 (100%) | ||
| Non-exon 20 mutations | 558 (92.2%) | ||
| Exon 20 alterations | 47 (7.8%)** | ||
| Insertions | p.S768_V769insVDS | 1 (0.2%) | |
| p.V769_D770insASV | 2 (0.3%) | ||
| p.D770_N771insGL | 1 (0.2%) | ||
| p.H773_V774insH | 1 (0.2%) | ||
| p. H773_V774insNPH | 1 (0.2%) | ||
| p. H773_V774insVH | 1 (0.2%) | ||
| Point mutations | p.Y764H | 1 (0.2%) | |
| p.M766V | 1 (0.2%) | ||
| p.S768G/I/T | 5 (0.8%) | ||
| p.V769L | 1 (0.2%) | ||
| p.N771S | 1 (0.2%) | ||
| p.P772R | 1 (0.2%) | ||
| p.V774A/M | 3 (0.5%) | ||
| p.L777P | 1 (0.2%) | ||
| p.S784F/P | 2 (0.3%) | ||
| p.T785I | 1 (0.2%) | ||
| p.V786M | 1 (0.2%) | ||
| p.I789M | 1 (0.2%) | ||
| p.T790M | 2 (0.3%) | ||
| p.G796S | 1 (0.2%) | ||
| p.L798P | 1 (0.2%) | ||
| p.D800G | 2 (0.3%) | ||
| p.Y801C | 1 (0.2%) | ||
| p.V802A | 2 (0.3%) | ||
| p.E804G | 1 (0.2%) | ||
| p.H805R | 1 (0.2%) | ||
| p.K806R | 1 (0.2%) | ||
| p.D807E/H | 2 (0.3o) | ||
| p.G810D | 1 (0.2%) | ||
| p.S811C | 1 (0.2%) | ||
| p.Y813C | 1 (0.2%) | ||
| p.L814M/P | 2 (0.3%) | ||
| p.C818F/R | 2 (0.3%) | ||
Abbreviation: % = percentage; EGFR = epidermal growth factor receptor; N = number of mutations or number of patients; TCGA = The Cancer Genome Atlas
*
A variety of EGFR exon 20 alterations were present in colorectal cancer. Only one was an EGFR T790M and no EGFR insertions were seen. The functional impact of some of these alterations is unclear.
**
47 EGFR exon 20 mutations were observed in 44 patients; three patients presented multiple EGFR exon 20 mutations.