Gene
KLHL6
1 variant(s) documented across POEMS Syndrome
Variants
| Variant | Type | Frequency in disease | Significance | Also found in |
|---|---|---|---|---|
| Recurrently mutated (somatic) | somatic | Recurrent in WES cohorts | One of 7 recurrently mutated genes identified by Nagao et al. (2019) in POEMS plasma cells. KLHL6 is involved in B-cell receptor signaling and germinal center B-cell formation. Mutations may contribute to aberrant B-cell differentiation. | Diffuse large B-cell lymphoma (~5%) |
Clinical implications
Recurrently mutated (somatic)
Research finding — no current clinical application.
Testing: Whole-exome sequencing, Targeted panel sequencing