Gene
CUX1
1 variant(s) documented across POEMS Syndrome
Variants
| Variant | Type | Frequency in disease | Significance | Also found in |
|---|---|---|---|---|
| Recurrently mutated (somatic) | somatic | 19% (Chen et al. 2021) | Most frequently mutated gene in the Chen et al. (2021) targeted sequencing cohort. CUX1 is a transcription factor involved in cell cycle regulation. Loss-of-function mutations may contribute to clonal expansion. | Myeloid neoplasms (Variable) |
Clinical implications
Recurrently mutated (somatic)
Research finding — no current clinical application.
Testing: Whole-exome sequencing, Targeted panel sequencing