Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Thr790Met (p.T790M) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Thr790Met (p.T790M) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
lung adenocarcinoma
Source Database
CIViC Evidence
Description
In a lung adenocarcinoma patient harboring an EGFR E746_A750 mutation and an acquired EGFR T790M co-mutation, EGFR T790M was associated with sensitivity to osimertinib monotherapy. Prior to the development of the EGFR T790M mutation, the patient was treated with gefitinib and achieved a partial response, but subsequently tumor progression occurred; however, osimertinib treatment resulted a favorable tumor response with the extinguishment of the EGFR T790M mutation. In a stage IV lung adenocarcinoma patient harboring an EGFR L858R mutation and an acquired EGFR T790M co-mutation, EGFR T790M was associated with sensitivity to osimertinib monotherapy. Prior to the development of the EGFR T790M mutation, the patient was treated with erlotinib, followed by gefitinib for 12 months and achieved stable disease, but subsequently metastasis occurred; the EGFR T790M was then identified and subsequent 10 month treatment with osimertinib monotherapy resulted in a 45% disease regression.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2157
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/34
Rating
2
Evidence Type
Predictive
Disease
Lung Adenocarcinoma
Evidence Direction
Supports
Drug
Osimertinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
26269204
Drugs
Drug NameSensitivitySupported
OsimertinibSensitivitytrue