Table 1.
Reported cases of MTOR-mutated RCC with concomitant loss of chromosome 1 in literature
| Case | Age/sex | Size (cm) | Stage | PAX8 | CD117 | CK7 | CK20 | AE1/AE3 | Melan A | HMB45 | Vimentin | MTOR mutation | Chr 1 | Follow up (months) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 (UChicago) | 63/M | 8.5 | pT3aN1 | + | + | - | + (focal) | - | - | N/A | - | c.7279_7280delinsAA (p.L2427K) | Loss | Liver metastasis, 153 months alive |
| 2 (UChicago) | 55/M | 12 | pT3aNx | + | + | - | + | - | - | N/A | - |
c.4348_4368del (p.Y1450_W1456del) |
Loss | Right rib metastasis and paracaval lymphadenopathy, 16 months alive |
| 3 (Caliò et al.) | 21/F | 9.5 | pT2aN1 | + | + (focal) | - | + (5%) | - | - | - | - | c.4348_4368del (p.Y1450_W1456del) | Loss | Lymph node metastasis, 30 months alive |
| 4 (Caliò et al.) | 58/F | 6.5 | pT1bNx | + | + (focal) | - | + (40%*) | - | - | - | - | c.7280 T > A (p.L2427Q) | Loss | Skull metastasis after 132 months, 135 months alive |
| 5 (Caliò et al.) | 49/M | 3.6 | pT1aNx | + | + (focal) | - | - | - | - | - | - | c.7280 T > A (p.L2427Q) | Loss | Liver metastasis after 36 months, 64 months alive |
*Only positive in the skull metastasis