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MYD88
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MYD88 L265P
GeneMYD88
Variantmissense
Amino Acid ChangeL265P
DNA Change (Coding Nucleotide)794T>C
Transcript ID (GRCh37/hg19)ENST00000396334
Codon265
Exon5
Genomic Coordinates (GRCh37/hg19)3:38182641-38182641
COSMIC ID85940
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 1
MYD88
Variants
MYD88 L265P
Primary Sites
Blood
Bone Marrow
Tumor Types
Lymphoplasmacytic Lymphoma
Interpretation

MYD88 is an adaptor protein in the Toll-like receptor and interleukin 1 receptor pathway which mediates activation of NF-KB. The somatic, activating mutation in MYD88 (p.L265P) has been reported in approximately 90% of lymphoplasmacytic lymphoma (Waldenostrom's macroglobuinemia), 20-30% of cases of diffuse large B cell lymphoma (DLBCL), 10-60% of IgM MGUS, 10% of MALT lymphoma and up to 10% of chronic lymphocytic leukemia. It has not been reported in acute leukemia or multiple myeloma (including IgM myeloma). The L265P mutation increases in NFkB activity, JAK-STAT3 (Janus kinase-signal transducer and activator of transcription 3) signalling and interferon-b production. Targetted therapy using inhibitors of the different components of this pathway are at various stages of investigation. Responses to targeted therapy with Ibrutinib may vary according to MYD88 and CXCR4 mutation status according to some studies.

Last updated: 2020-07-24 14:53:37 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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