Table 6.
Discordant EGFR Mutations in Primary and Metastatic Lung Cancers Reported in the Literature
| Seriesa | Met | Assay | Met(–)/Pri(+), No. (%)b | Pri(–)/Met(+), No. (%)c | Discordant Rate, No. (%)d |
|---|---|---|---|---|---|
| Sanger: LN met | |||||
| Park et al (101)7 | LN | Sanger | 11/21 (52) | 1/11 (9.1) | 12/22 (55) |
| Schmid et al (96)8 | LN | Sanger | 3/4 (75) | 3/4 (75) | 6/7 (86) |
| Sun et al (80)9 | LN | Sanger | 2/21 (9.5) | 7/26 (27) | 7/26 (32) [2] |
| Chang et al (56)10 | LN | Sanger | 10/20 (50)b | 4/14 (29)c | 14/24 (58) |
| Han et al (22)11 | LN | Sanger | 1/7 (14) | 0/6 (0) | 1/7 (14) |
| Chen et al (49)12 | LN | Sanger | 6/20 (30) | 1/15 (6.7) | 7/21 (33) |
| Kang et al (74)13 | LN | Sanger | 6/31 (19)b | 0/25 (0)c | 6/31 (19) |
| Okada et al (14)14 | LN | PNA-Sanger | 1/3 (33) | 0/2 (0) | 1/3 (33) |
| Shimizu et al (70)15 | LN | PNA-Sanger | 10/21 (48) | 0/11 (0) | 10/21 (48) |
| Subtotal | 50/148 (34) | 16/114 (14) | 64/162 (40) | ||
| Sanger: variety met | |||||
| Matsumoto et al (8)16 | Brain | Sanger | 0/6 (0) | 0/6 (0) | 0/6 (0) |
| Kalikaki et al (25)17 | Variety | Sanger | 1/2 (50)b | 0/1 (0)c | 1/2 (50) |
| Gow et al (67)18 | Variety | Sanger | 7/16 (44)b | 18/27 (67) | 25/34 (74) |
| Munfus-McCray et al (9)19 | Variety | Sanger | 1/3 (33) | 0/2 (0) | 1/3 (33) |
| Han et al (37)20 | Variety | Sanger | 5/18 (28) | 3/16 (19) | 7/20 (35) [1] |
| Chen et al (35)12 | Variety | Sanger | 4/19 (21) | 1/16 (6.3) | 5/20 (25) |
| Subtotal | 18/64 (28) | 22/68 (32) | 39/85 (46) | ||
| Sanger: all studies | 68/212 (32) | 38/182 (21) | 103/247 (42) | ||
| Other assays | |||||
| Fang et al (219)21 | LN | TaqMan | 23/57 (40) | 0/34 (0) | 23/57 (40) |
| Luo et al (15)22 | Brain | ARMS | 0/7 (0) | 1/8 (13) | 1/8 (13) |
| Yatabe et al (127)23 | LN | Variety | 0/77 (0) | 0/77 (0) | 0/77 (0) |
| Quéré et al (18)24 | Variety | Variety | 0/2 (0) | 0/2 (0) | 0/2 (0) |
| NGS assay | |||||
| Vignot et al (15)25 | Variety | NGS | 0/1 (0) | 0/1 (0) | 0/1 (0) |
| Xie et al (35)26 | LN | NGS | 0/21 (0) | 0/21 (0) | 0/21 (0) |
| Current study (4) | Variety | NGS | 0/4 (0) | 0/4 (0) | 0/4 (0) |
| Subtotal | 0/26 (0) | 0/26 (0) | 0/26 (0) | ||
| Total | 91/381 (24) | 39/329 (12) | 127/417 (30) |
ARMS, amplification mutation refractory system; LN, lymph node metastasis; Met, metastasis; NGS, next-generation sequencing; PNA-Sanger, peptide nucleic acid mediated polymerase chain reaction (PCR) and Sanger sequencing; TaqMan, TaqMan real-time PCR.
aNumber in the parentheses indicates total pairs of primary and metastatic specimens examined. Including 77 pairs with a known EGFR mutation in the primary tumor and 50 pairs with known wild-type EGFR in the primary tumor in Yatabe et al.23 Case PM10 in the current study was not included.
bNo. (%) of mutations detected in the primary tumor but not the metastatic tumor. Discordance of uncommon EGFR mutations was not included.
cNo. (%) of mutations detected in the metastatic tumor but not the primary tumor. Discordance of uncommon EGFR mutations or p.T790M mutation in the posttreatment metastatic specimens was not included.
dNumerator: numbers of pair with discordant EGFR mutation (mutation detected only in the primary tumor or the metastatic tumor, or different EGFR mutations detected). Denominator: pairs with EGFR mutation detected in one or two of the paired specimens. Number in the bracket indicates pairs with different EGFR mutations.