What is the role of genetic studies in the workup of Waldenström macroglobulinemia?

Updated: Feb 01, 2021
  • Author: Karen Seiter, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Various chromosomal abnormalities are common in patients with Waldenström macroglobulinemia.The L265P mutation in MYD88 can be found in more than 90% of patients and has clinical and prognostic significance. [5] Whole genome sequencing in 30 patients with Waldenström macroglobulinemia also found the WHIM (warts, hypogammaglobulinemia, infection, myelokathexis syndrome) mutation in CXCR4 (27%) and mutations in ARID1A (17%). [27]

Although no evidence to date links Waldenström macroglobulinemia with consistent chromosomal or genetic changes, and prognostic implications are uncertain, a French study suggested that a polymorphism may be a prognostic factor following initiation of treatment for this disease. Poulain et al evaluated the distribution and clinical influence of the CXCL12 (-801GA) polymorphism in 114 patients with Waldenström macroglobulinemia and found that the CXCL12 (-801AA) genotype occurred more commonly in affected patients than in control subjects. [28]

In addition, patients in the study with CXCL12 (-801GG) had a shorter median survival time following administration of first-line therapy than did the remaining patients. The investigators suggested the CXCL12 (-801GA) polymorphism may be associated with a higher incidence of Waldenström macroglobulinemia or may influence clinical outcome.

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