Bi-directional sequencing of exons 3-13 and 15-18 of the EZH2 gene.
Somatic EZH2 mutations are detected in ~9% of CMML and ~6% of MDS, and are independent predictors of poor overall survival in MDS. In diffuse large B-cell lymphoma (DLBCL), mutations are present in ~22% of the germinal center B-cell-like (GCB) subtype of diffuse large B-cell lymphoma (DLBCL) but very rare in the activated B-cell-like (ABC) subtype, so mutation analysis can be useful to differentiate between the subtypes. EZH2 inhibitor therapy is an active area of clinical research. Constitutional EZH2 mutations are associated with Weaver Syndrome, characterized by overgrowth, advanced bone age, characteristic facial features, developmental delay, and mild predisposition to cancer.
- Peripheral blood: 5 mL in EDTA tube.
- Bone marrow: 2 mL in EDTA tube.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.