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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

2011; Ferrata Storti Foundation; Volume: 97; Issue: 3 Linguagem: Inglês

10.3324/haematol.2011.060129

1592-8721

Ilaria Del Giudice, Davide Rossi, Sabina Chiaretti, M Marinelli, Simona Tavolaro, Sara Gabrielli, Luca Laurenti, Roberto Marasca, Silvia Rasi, Marco Fangazio, Attilio Guarini, Gianluca Gaïdano, R. Foà,

Advanced Breast Cancer Therapies

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