Annotation Detail

Information
Associated Genes
NTRK1
Associated Variants
NTRK1 NTRK1 FUSIONS NTRK1 NTRK1 FUSIONS
Associated Disease
sarcoma
Source Database
CIViC Evidence
Description
LOXO-101 is an orally administered inhibitor of the TRK kinase and is highly selective only for the TRK family of receptors. The tumor of a 41-year-old woman with soft-tissue sarcoma metastatic to the lung was found to harbor an LMNA-NTRK1 gene fusion encoding a functional LMNA-TRKA fusion oncoprotein. This patient's tumors underwent rapid and substantial tumor regression, with an accompanying improvement in pulmonary dyspnea, oxygen saturation, and plasma tumor markers.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2956
Gene URL
https://civic.genome.wustl.edu/links/genes/3983
Variant URL
https://civic.genome.wustl.edu/links/variants/419
Rating
2
Evidence Type
Predictive
Disease
Sarcoma
Evidence Direction
Supports
Drug
Larotrectinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
26216294
Drugs
Drug NameSensitivitySupported
LarotrectinibSensitivitytrue