On Monday 3rd April, during the American Association for Cancer Research (AACR) 2017 annual meeting, a poster (1318 / 19) by Mary L. McMaster, from NCI-DCEG, Bethesda, MD, et al. titled “A genome-wide association study of Waldenström Macroglobulinemia/Lymphoplasmacytic Lymphoma demonstrates association with chromosomes 6 and 14” was presented.
The group aimed to find common genetic aberrations resulting in susceptibility to Waldenström Macroglobulinemia (WM). They carried out a two-stage Genome-Wide Association study (GWAS) which included more than 450 WM cases and 4,300 controls of European ancestry. Stage 1 (discovery) included 217 cases of WM (40% familial) and 3,798 controls. Stage 2 (replication) included 269 WM or LPL cases (4% familial) and 571 controls.
- Two novel loci on chromosomes 6 and 14 associated with WM/LPL
- Stage 1 set enriched for familial cases, and strongest signals replicated in mostly non-familial dataset
- Preliminary results confirm replication of the chromosome 6 locus
- EXOC2, the strongest signal (chromosome 6), is associated with DLBCL; common genetic mechanisms potentially contribute to development of heterogeneous Lymphoma subsets
- Chromosome 14 signal found in intergenic region near T-Cell Leukemia (TCL) gene family
- TCL1A is potential candidate; expression is differentiation stage-specific in B-cells and is aberrantly expressed in mature B-cell malignancies including WM
The poster was concluded by stating that this group’s results provide some understanding of the underlying genetic basis of WM susceptibility.
- McMaster M.L. et al. A genome-wide association study of Waldenström Macroglobulinemia/Lymphoplasmacytic Lymphoma demonstrates association with chromosomes 6 and 14 [Poster]. In: Proceedings of the 107th Annual Meeting of the American Association for Cancer Research; 2017 Apr 1-5; Washington, DC. Philadelphia (PA): AACR; 2017. Poster nr [1318 / 19].