Novel Mutation Identified in Most Waldenström Macroglobulinemias

A point mutation in the MYD88 gene was present in 90% of patients.

Recurring chromosomal translocations and gene mutations characterize most subtypes of non-Hodgkin lymphoma. However, none has yet been identified in Waldenström macroglobulinemia (WM), an IgM-secreting lymphoplasmacytic lymphoma (LPL).

Now, investigators have performed whole-genome sequencing of bone marrow LPL from 30 patients with WM, including 10 with paired normal-tissue and tumor-tissue cells, to identify mutations unique to the tumor cells. To validate the findings, sequencing was performed in samples from healthy donors and patients with LPL and other related B-cell disorders. Protein analyses verified MYD expression in patient samples with the gene mutation. Results were as follows:

Among 10 patients with paired tissue samples, all we…

Reviewing Author

Michael E. Williams, MD

Disclosures

Consultant/Advisory BoardAbbVie; AstraZeneca; Beigene; Janssen; Pharmacyclics

Grant/Research SupportJanssen

Editorial BoardsAmerican Board of Internal Medicine (ABIM) Hematology Longitudinal Knowledge Approval Committee

Michael E. Williams, MD

Disclosures

Consultant/Advisory BoardAbbVie; AstraZeneca; Beigene; Janssen; Pharmacyclics

Grant/Research SupportJanssen

Editorial BoardsAmerican Board of Internal Medicine (ABIM) Hematology Longitudinal Knowledge Approval Committee