Recurrent mutations refine prognosis in chronic lymphocytic leukemia.
- Baliakas P
- Hadzidimitriou A
- Sutton LA
- Minga E
- Villamor N
- Larrayoz M
- Kminkova J
- Agathangelidis A
- Davis Z
- Tausch E
- Stalika E
- Kantorova B
- Mansouri L
- Scarfò L
- Cortese D
- Navrkalova V
- Rose Zerilli MJ
- Smedby KE
- Juliusson G
- Anagnostopoulos A
- Makris AM
- Navarro A
- Delgado J
- Oscier D
- Belessi C
- Stilgenbauer S
- Ghia P
- Pospisilova S
- Campo E
- Strefford JC
- Stamatopoulos K
- Rosenquist R.
- ROSSI, Davide
- GAIDANO, Gianluca
DOIAbstract
Through the European Research Initiative in CLL (ERIC), we screened 3490 patients with chronic lymphocytic leukemia (CLL) for mutations within the NOTCH1 (n=3334), SF3B1 (n=2322), TP53 (n=2309), MYD88 (n=1080) and BIRC3 (n=919) genes, mainly at diagnosis (75%) and prior to treatment (>90%). BIRC3 mutations (2.5%) were associated with unmutated IGHV genes (U-CLL), del(11q) and trisomy 12, whereas MYD88 mutations (2.2%) were exclusively found among M-CLL. NOTCH1, SF3B1 and TP53 exhibited variable frequencies and were mostly enriched within clinically aggressive cases. Interestingly, as the timespan between diagnosis and mutational screening increased, so too did the incidence of SF3B1 mutations; no such increase was observed for NOTCH1 mutati...
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