Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
- ALK ALK FUSIONS ALK ALK FUSIONS
- Associated Disease
- epithelioid inflammatory myofibroblastic sarcoma
- Source Database
- CIViC Evidence
- Description
- This is a case report of a 22-year-old Japanese man with a pelvic mesenchymal neoplasm. Tumor analysis include IHC and RT-PCR led to diagnosis of epithelioid inflammatory myofibroblastic sarcoma with RANBP2-ALK fusion. Despite two surgical excision procedures, local recurrence rapidly occurred, and the tumor developed resistance to conventional chemotherapy with doxorubicin. Subsequent administration of crizotinib resulted in relief of severe pain and durable tumor shrinkage at least 10 months.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6043
- Gene URL
- https://civic.genome.wustl.edu/links/genes/1
- Variant URL
- https://civic.genome.wustl.edu/links/variants/499
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Epithelioid Inflammatory Myofibroblastic Sarcoma
- Evidence Direction
- Supports
- Drug
- Crizotinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 25028698
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Crizotinib | Sensitivity | true |