NOTCH1 mutations in +12 chronic lymphocytic leukemia (CLL) confer an unfavorable prognosis, induce a distinctive transcriptional profiling and refine the intermediate prognosis of +12 CLL
oleh: Ilaria Del Giudice, Davide Rossi, Sabina Chiaretti, Marilisa Marinelli, Simona Tavolaro, Sara Gabrielli, Luca Laurenti, Roberto Marasca, Silvia Rasi, Marco Fangazio, Anna Guarini, Gianluca Gaidano, Robin Foà
| Format: | Article |
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| Diterbitkan: | Ferrata Storti Foundation 2012-03-01 |
Deskripsi
Trisomy 12, the third most frequent chromosomal aberration in chronic lymphocytic leukemia (CLL), confers an intermediate prognosis. In our cohort of 104 untreated patients carrying +12, NOTCH1 mutations occurred in 24% of cases and were associated to unmutated IGHV genes (P=0.003) and +12 as a sole cytogenetic abnormality (P=0.008). NOTCH1 mutations in +12 CLL associated with an approximately 2.4 fold increase in the risk of death, a significant shortening of survival (P