Annotation Detail

Information
Associated Genes
PML
Associated Variants
PML PML-RARA L218P
Associated Disease
acute promyelocytic leukemia
Source Database
CIViC Evidence
Description
The PML L218P mutation in the PML-RARa fusion was observed in a patient with previously ATRA-treated, relapsed acute promyelocytic leukemia refractory to arsenic trioxide.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1094
Gene URL
https://civic.genome.wustl.edu/links/genes/39
Variant URL
https://civic.genome.wustl.edu/links/variants/463
Rating
3
Evidence Type
Predictive
Disease
Acute Promyelocytic Leukemia
Evidence Direction
Supports
Drug
Tretinoin
Evidence Level
C
Clinical Significance
Resistance
Pubmed
21613260
Drugs
Drug NameSensitivitySupported
TretinoinResitance or Non-Reponsetrue