- Young, E;
- Noerenberg, D;
- Mansouri, L;
- Ljungström, V;
- Frick, M;
- Sutton, L-A;
- Blakemore, SJ;
- Galan-Sousa, J;
- Plevova, K;
- Baliakas, P;
- Rossi, D;
- Clifford, R;
- Roos-Weil, D;
- Navrkalova, V;
- Dörken, B;
- Schmitt, CA;
- Smedby, KE;
- Juliusson, G;
- Giacopelli, B;
- Blachly, JS;
- Belessi, C;
- Panagiotidis, P;
- Chiorazzi, N;
- Davi, F;
- Langerak, AW;
- Oscier, D;
- Schuh, A;
- Gaidano, G;
- Ghia, P;
- Xu, W;
- Fan, L;
- Bernard, OA;
- Nguyen-Khac, F;
- Rassenti, L;
- Li, J;
- Kipps, TJ;
- Stamatopoulos, K;
- Pospisilova, S;
- Zenz, T;
- Oakes, CC;
- Strefford, JC;
- Rosenquist, R;
- Damm, F
Recurrent mutations within EGR2 were recently reported in advanced-stage chronic lymphocytic leukemia (CLL) patients and associated with a worse outcome. To study their prognostic impact, 2403 CLL patients were examined for mutations in the EGR2 hotspot region including a screening (n=1283) and two validation cohorts (UK CLL4 trial patients, n=366; CLL Research Consortium (CRC) patients, n=490). Targeted deep-sequencing of 27 known/postulated CLL driver genes was also performed in 38 EGR2-mutated patients to assess concurrent mutations. EGR2 mutations were detected in 91/2403 (3.8%) investigated cases, and associated with younger age at diagnosis, advanced clinical stage, high CD38 expression and unmutated IGHV genes. EGR2-mutated patients frequently carried ATM lesions (42%), TP53 aberrations (18%) and NOTCH1/FBXW7 mutations (16%). EGR2 mutations independently predicted shorter time-to-first-treatment (TTFT) and overall survival (OS) in the screening cohort; they were confirmed associated with reduced TTFT and OS in the CRC cohort and independently predicted short OS from randomization in the UK CLL4 cohort. A particularly dismal outcome was observed among EGR2-mutated patients who also carried TP53 aberrations. In summary, EGR2 mutations were independently associated with an unfavorable prognosis, comparable to CLL patients carrying TP53 aberrations, suggesting that EGR2-mutated patients represent a new patient subgroup with very poor outcome.