BRAFV600E mutation in patients with Erdheim-Chester disease (ECD) and controls as evaluated by direct pyrosequencing alone and by a locked nucleic acid PCR (LNA-PCR)/pyrosequencing combined assay
| Pyrosequencing BRAF V600E n (%) | LNA-PCR/pyrosequencing BRAF V600E n (%) | |
|---|---|---|
| ECD tissue samples | 12/18 (67%) | 18/18 (100%) |
| Control tissues (non-ECD xanthogranulomatous lesions) | 0/5 (0%) | 0/5 (0%) |
| ECD PBMC | 0/16 (0%) | 16/16 (100%) |
| HD PBMC | 0/16 (0%) | 0/16 (0%) |
HD, healthy donor; LNA-PCR locked nucleic acid PCR; PBMC peripheral blood mononuclear cells.