Journal
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL
Volume 97, Issue 3, Pages 437-441Publisher
FERRATA STORTI FOUNDATION
DOI: 10.3324/haematol.2011.060129
Keywords
chronic lymphocytic leukemia; NOTCH1 mutations; trisomy 12; prognosis; gene expression profile
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Funding
- AIRC
- AIRC, Milan, Italy [10007]
- Compagnia di San Paolo, Torino, Italy
- Fondazione per le Biotecnologie, Torino, Italy
- Fondazione Buzzati-Traverso, Pavia, Italy
- Progetto FIRB-Programa Futuro in Ricerca
- MIUR, Rome, Italy
- Progetto Giovani Ricercatori
- Ministero della Salute, Rome, Italy
- Novara-AIL Onlus (to GG), Novara, Italy
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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 < 0.01) and proved to be an independent predictor of survival in multivariate analysis. Analogous to +12 CLL with TP53 disruption or del(11q), NOTCH1 mutations in +12 CLL conferred a significantly worse survival compared to that of +12 CLL with del(13q) or +12 only. The overrepresentation of cell cycle/proliferation related genes of +12 CLL with NOTCH1 mutations suggests the biological contribution of NOTCH1 mutations to determine a poor outcome. NOTCH1 mutations refine the intermediate prognosis of +12 CLL.
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