Annotation Detail
Information
- Associated Genes
- PTPRD
- Associated Variants
-
PTPRD p.Val253Ile (p.V253I)
(
ENST00000355233.9,
ENST00000356435.9,
ENST00000381196.9,
ENST00000397606.7,
ENST00000397611.7,
ENST00000397617.8,
ENST00000486161.5,
ENST00000537002.5,
ENST00000540109.5 )
PTPRD p.Val253Ile (p.V253I) ( ENST00000355233.9, ENST00000356435.9, ENST00000381196.9, ENST00000397606.7, ENST00000397611.7, ENST00000397617.8, ENST00000486161.5, ENST00000537002.5, ENST00000540109.5 ) - Associated Disease
- Ewing sarcoma of bone
- Source Database
- CIViC Evidence
- Description
- Report of complete response to IGF1-R antibody, with or without mTOR inhibitor tensirolimus in 2/3 Ewing Sarcoma patients with germline PTPRD mutations (V253I and W775*, R995C). The third patient had stable disease (T781A mutant). Four wildtype patients had stable or progressive disease.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1856
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4692
- Variant URL
- https://civic.genome.wustl.edu/links/variants/792
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Ewing Sarcoma Of Bone
- Evidence Direction
- Supports
- Drug
- Cixutumumab,Teprotumumab
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 23800680
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Cixutumumab | Sensitivity | true |
| Teprotumumab | Sensitivity | true |