Results from PDGFRA gene sequencing
| . | Patients, n (%) . |
|---|---|
| Point mutations | 7 (8) |
| Wild type | |
| No polymorphism | 46 (52.9) |
| With polymorphisms | 34 (39.1) |
| P567P | 17 (19.5) |
| A603A | 2 (2.3) |
| S616S | 1 (1.1) |
| S752S | 1 (1.1) |
| S478P, V824V | 6 (6.9) |
| S478P, A603A, V824V | 3 (3.4) |
| P567P, S478P, V824V | 1 (1.1) |
| S478P, P567P, A603A, V824V | 2 (2.3) |
| S478P, P567P, A603A, P744P, V824V | 1 (1.1) |
| PDGFRA overexpression (among all patients) | 36 (42.5) |
| . | Patients, n (%) . |
|---|---|
| Point mutations | 7 (8) |
| Wild type | |
| No polymorphism | 46 (52.9) |
| With polymorphisms | 34 (39.1) |
| P567P | 17 (19.5) |
| A603A | 2 (2.3) |
| S616S | 1 (1.1) |
| S752S | 1 (1.1) |
| S478P, V824V | 6 (6.9) |
| S478P, A603A, V824V | 3 (3.4) |
| P567P, S478P, V824V | 1 (1.1) |
| S478P, P567P, A603A, V824V | 2 (2.3) |
| S478P, P567P, A603A, P744P, V824V | 1 (1.1) |
| PDGFRA overexpression (among all patients) | 36 (42.5) |
In a screen 87 patients with idiopathic HES were sequenced for PDGFRA mutations.