Annotation Detail
Information
- Associated Genes
- CTLA4
- Associated Variants
- CTLA4 CTLA4-CD28
- Associated Disease
- Sezary's disease
- Source Database
- CIViC Evidence
- Description
- A 67-year-old Caucasian female with stage IVA Sezary syndrome presented refractory to traditional therapy and was enrolled in a whole genome study trial. Sequencing revealed a CTLA4-CD28 fusion protein such that the inhibitory CTLA4 receptor activated a stimulatory CD28 intracellular domain that promoted proliferation. The patient was treated with iplimumab, a CTLA4 receptor inhibitor, and after 10 days, there was a reduction in erythema and ulceration by 50%, a reduction in tumor size by 75%, and overall improved quality of life. However, during the sixth week of therapy, the patient rapidly developed skin tumors and died 3 months later.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1520
- Gene URL
- https://civic.genome.wustl.edu/links/genes/1285
- Variant URL
- https://civic.genome.wustl.edu/links/variants/599
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Sezary's Disease
- Evidence Direction
- Supports
- Drug
- Ipilimumab
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 25802883
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Ipilimumab | Sensitivity | true |