MYD88
Genetic findings for MYD88 in POEMS Syndrome
Variants (1)
| Variant | Type | Frequency | Significance |
|---|---|---|---|
| Somatic mutations (including L265P) | somatic | Rare (identified in Chen et al. 2021 WES) | MYD88 mutations detected in some POEMS patients, though at lower frequency than in Waldenstrom macroglobulinemia (>90%). Drives NF-kB activation. Overlap with Waldenstrom and Schnitzler syndrome pathogenesis. |
Clinical implications
Somatic mutations (including L265P)
May predict response to ibrutinib or other BTK inhibitors.
Also found in: Waldenstrom macroglobulinemia (>90%), Schnitzler syndrome (~30%)