Annotation Detail

Information
Associated Genes
MYD88
Associated Variants
MYD88 p.Leu260Pro (p.L260P) ( ENST00000417037.8, ENST00000421516.3, ENST00000650112.2, ENST00000650905.2, ENST00000651800.2, ENST00000652213.1 )
MYD88 p.Leu260Pro (p.L260P) ( ENST00000417037.8, ENST00000421516.3, ENST00000650112.2, ENST00000650905.2, ENST00000651800.2, ENST00000652213.1 )
Associated Disease
Waldenström's Macroglobulinemia
Source Database
CIViC Evidence
Description
A prospective study of ibrutinib in 63 symptomatic patients with Waldenström's macroglobulinemia who had received at least one previous treatment. The response rates were highest among patients with MYD88(L265P) and CXCR4(WT). The MYD88 L265P mutation was present in 56 patients (89%).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/986
Gene URL
https://civic.genome.wustl.edu/links/genes/3742
Variant URL
https://civic.genome.wustl.edu/links/variants/424
Rating
4
Evidence Type
Predictive
Disease
Waldenström's Macroglobulinemia
Evidence Direction
Supports
Drug
Ibrutinib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
25853747
Drugs
Drug NameSensitivitySupported
IbrutinibSensitivitytrue