Table 5. Cases with mutations detected by Next Generation Sequencing but not by Sanger sequencing.
# Case | Total tumor cell number | Tumor cell % | EGFR status (Ex18-21) according to Sanger sequencing | EGFR status (Ex18-21) according to NGS | Ex | % of mutated reads | Predicted role for TKI treatment | Clinical relevance of mutations detected by NGS but not by Sanger | Specimen Type | Diagnosis |
---|---|---|---|---|---|---|---|---|---|---|
67 | 1,392 | 5 | WT | del E746-A751 | 19 | 2 | RESPONSIVE | YES | C | NSCLC |
80 | 858 | 5 | WT | L858R | 21 | 6 | RESPONSIVE | YES | B | ACA Bone Met |
63 | 3,240 | 10 | WT | del K745-A750 | 19 | 2 | RESPONSIVE | YES | C | ACA |
76 | 952 | 15 | WT | del E746-A750 | 19 | 2 | RESPONSIVE | YES | C | ACA |
39 | 3,720 | 25 | WT | D807G | 20 | 16 | Mut. not described | NO | C | NSCLC |
57 | 4,672 | 35 | WT | G721W | 20 | 4 | Mut. not described | C | ACA LN Met | |
R831H | 21 | 3 | RESISTANCE | YES | ||||||
25 | NA | <40 | WT | S752F | 20 | 5.2 | Mut. not described | NO | C | ACA |
T785I | 21 | 10 | UNDEFINED | |||||||
30 | NA | >40 | F795S | 20 | 16 | UNDEFINED | NO | C | NSCLC | |
L858R | L858R | 21 | 20 | RESPONSIVE | ||||||
2 | 228,150 | 46 | del E746-A750 | del E746-A750 | 19 | 49 | RESPONSIVE | NO | C | ACA |
P772S | 20 | 1 | RESPONSIVE | |||||||
68 | 1,390 | 50 | P691T | 18 | 2.4 | Mut. not described | B | ACA | ||
T790M | T790M | 20 | 26 | RESISTANCE | NO | |||||
L858R | L858R | 21 | 26 | RESPONSIVE | ||||||
79 | 18,000 | 50 | WT | del L747-A750 insP | 19 | 4 | RESPONSIVE | YES | C | NSCLC LN Met |
62 | 42,504 | 60 | K708N | 18 | 2.5 | Mut. not described | NO | B | ACA LN Met | |
G719A | G719A | 18 | 38 | RESPONSIVE | ||||||
59 | 20,784 | 80 | WT | V845M | 21 | 1.5 | UNDEFINED | NO | B | ACA Trachea Met |
66 | 11,410 | 80 | WT | del L747-S752 | 19 | 1.7 | RESPONSIVE | YES | B | ACA |
Ex, Exon; B, biopsy sample; C, cytology sample; LN, lymph node; Met, metastasis; NSLC, non-small cell Lung carcinoma; ACA, adenocarcinoma; NA, not available; WT, wild type; del, deletion; ins, insertion; mut., mutation.