MYD88 exon 5 mutation detection is now available in the UIHC Molecular Pathology Laboratory. Myeloid differentiation primary response 88 (MYD88) encodes a cytosolic adapter protein that is frequently mutated in Waldenström macroglobulinemia (WM) and lymphoplasmacytic lymphoma (LPL). Approximately 90% of cases harbor a leucine to proline mutation at codon 265 (p.L265P, c.794T>C) in exon 5. Detection of MYD88 L265P can help establish a diagnosis of LPL in patients with typical histologic and flow cytometry findings as it rarely occurs in marginal zone lymphoma or chronic lymphocytic leukemia. MYD88 mutation status may also assist with risk stratification of IgM monoclonal gammopathy of undetermined significance or MGUS as patients who have the mutation are possibly at increased risk of progression to WM or LPL.

MYD88 Mutation Analysis with Interpretation
TEST:  MYD88 Exon 5 Sequencing
EPIC Order Code:  LAB8392 (FFPE tissue), LAB8462 (Blood), LAB8463 (Marrow).
The different order codes address the different specimen collection.

Method: High throughput or next generation sequencing. Testing is batched. Turn-around-time is 6-10 days.

Specimen type:
Peripheral Blood: 5-10mL in EDTA (Lavender/Purple tube)
Bone marrow aspirate: 3-5mL in EDTA (Lavender/Purple tube)
Storage/Transport Temperature: Refrigerated, 48 hours; Ambient, 24 hours
Frozen, clotted or severely hemolyzed specimens are NOT acceptable
Tissue (fresh or formalin fixed paraffin embedded),

Questions concerning testing can be directed to Aaron Bossler, MD, PhD (ext. 4-9566).