Heritable Predisposition To Richter Syndrome In Patients With Chronic Lymphocytic Leukemia
Sameer A. Parikh, Susan L Slager, Kari G. Rabe et al.
Key Points:
To study risk of Richter syndrome and germline genetic variations.
Patients prospectively and longitudinally followed at Mayo Clinic included patients with newly diagnosed CLL (<9 months from diagnosis).
Germline polymorphisms in single SNP, rs4987852, which encodes for BCL2 associated with increased risk of RS (ordinal HR=3.9; 95% CI=1.6-9.8; p-value=0.004).
Findings present in 48/605 (8%) non-transformed CLL patients and in 4/15 (27%) patients with RS.
Implications:
- Inherited genetic polymorphisms predispose CLL patients to develop RS like SNP-rs4987852.
View the original abstract on the ASH website.
