Annotation Detail
Information
- Associated Genes
- MET
- Associated Variants
-
MET EXON 14 SKIPPING MUTATION
MET EXON 14 SKIPPING MUTATION - Associated Disease
- histiocytic and dendritic cell cancer
- Source Database
- CIViC Evidence
- Description
- An 84 year old never-smoker with an upper chest mass was found to have stage 3 histiocytic sarcoma. Genomic profiling discovered a MET exon 14 variant c.2888-5_2944del62, as well as TP53 p.R175H and ZMYM3 c.3008-1G>A. After four months of crizotinib treatment tumour volume had decreased by >60%, however the patient showed progression at 11 months.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7796
- Gene URL
- https://civic.genome.wustl.edu/links/genes/52
- Variant URL
- https://civic.genome.wustl.edu/links/variants/324
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Histiocytic And Dendritic Cell Cancer
- Evidence Direction
- Supports
- Drug
- Crizotinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 25971938
Drugs
Drug Name | Sensitivity | Supported |
---|---|---|
Crizotinib | Sensitivity | true |