Table 1.
Somatic mutations in lobular neoplasia, primary ILC (and their variants), and metastatic ILC
| Lee et al. [29] | Harrison et al. [27] | Shamir et al. [33] | Ciriello et al. [32] | Michaut et al. [34] | Desmedt et al. [35] | Rosa-Rosa et al. [36] | Zhu et al. [37] | Richard et al. [38] | Pareja et al. [39] | Sokol et al. [40] | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CLCIS (n = 43) | PLCIS (17) FLCIS (2) (n = 19) |
PLCIS (10) FLCIS (6) (n = 16) |
ILC (n = 127) | ILC (n = 144) | ILC (n = 413) | PILC (n = 27) | PILC (n = 17) | Primary ILC (n = 32) | Metastatic ILC (n = 32) | Primary ILC (n = 127) | Metastatic ILC (n = 132) | Metastatic ILC (n = 180)* | ||
| Mutations | CDH1 | 81.0% | 94.7% | 94.0% | 63.0% | 42.7% | 65.4% | 89.0% | 59.8% | 53% | 62.5% | 82% | 76% | 77% |
| PIK3CA | 32.0% | 31.6% | 56.2% | 48.0% | 33.8% | 43.3% | 33.0% | 52.9% | 44% | 44% | 57% | 52% | 52.9% | |
| ERBB2 | 7.0% | 68.4% | 37.5% | 4.0% | 4.3% | 5.1% | 26.0% | 17.6% | 12.5% | 15.6% | 2% | 12% | 8.3% | |
| ERBB3 | NR | 21.1% | 18.8% | NR | 2.9% | 3.6% | NR | 23.5% | 3% | 0% | NR | NR | < 5% | |
| RUNX1 | 2.3% | 21.1% | NR | 10.0% | NR | 3.4% | NR | 11.8% | 3% | 6% | 9% | 5% | ~ 7% | |
| CBFB | 19.0% | 15.8% | 12.5% | 2.0% | NR | NR | NR | 17.6% | NR | NR | NR | NR | NR | |
| FOXA1 | 4.7% | 10.5% | 31.3% | 7.0% | NR | 9.0% | NR | 5.9% | 15.6% | 15.6% | 8% | 11% | NR | |
| GATA3 | 4.7% | 10.5% | 12.5% | 5.0% | 5.1% | 7.3% | 7.0% | 5.9% | 15.6% | 15.6% | 3% | 7% | 2.2% | |
| ARID1A | 2.3% | 10.5% | 6.3% | 17.0% | 7.0% | 6.3% | 15.0% | 5.9% | 12.5% | 12.5% | 8% | 11% | ~ 12% | |
| TP53 | 0% | 5.3% | 18.8% | 8.0% | 3.6% | 7.3% | 19.0% | 11.8% | 18.7% | 9% | 9% | 20% | 23.9% | |
| TBX3 | 9.3% | NR | NR | 9.0% | 8.0% | 13.3% | 7.0% | 23.5% | 21.8% | 18.7% | 10% | 16% | 12.8% | |
| KMT2C | 2.3% | NR | NR | 7.0% | 10.0% | 8.0% | 19.0% | 35.3% | NR | NR | NR | NR | < 5% | |
| MAP3K1 | 4.7% | NR | NR | 6.0% | 5.1% | 5.0% | 19.0% | 35.3% | 18.7% | 15.6% | 10% | 10% | < 5% | |
| ESR1 | NR | NR | NR | NR | 1.4% | NR | NR | 5.9% | 12.5% | 15.6% | 2% | 15% | 17% | |
| AKT1 | 4.7% | NR | NR | 2.4% | 5.1% | 4.1% | 7.0% | 5.9% | 6.2% | 9.4% | NR | NR | ~ 5% | |
| PTEN | 0% | NR | 6.2% | 7.0% | 1.4% | 3.9% | NR | 0% | 3.1% | 0% | 9% | 9% | ~ 10% | |
| NF1 | NR | NR | 0% | NR | 4.3% | 1.0% | 7.0% | 24% | 3.1% | 6.2% | 2% | 8% | 12.2 | |
| Amp | CCND1 | NR | 26.3% | 18.8% | 17.0% | 15.0% | 38.0% | 11.0% | 12.0% | 33.3% | 38.0% | 17% | 17% | 22% |
| ERBB2 | 4.7% | 31.5% | 12.5% | 7.0% | 4.0% | 0.0% | 4.0% | 6.0% | 33.3% | 15.6% | 2% | 5% | NR | |
| FGFR1 | 0% | 0% | NR | NR | NR | 25.3% | 7.0% | 23.5% | 6.2% | 6.2% | 7% | 11% | 7.8% | |
CLCIS classic LCIS, FLCIS florid LCIS, NR not reported, PILC pleomorphic ILC, PLCIS pleomorphic LCIS
*Frequencies of some alterations estimated from Figure 2 in Sokol et al. [40]