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.

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 / DEL GIUDICE, Ilaria; D., Rossi; Chiaretti, Sabina; M., Marinelli; Tavolaro, Simona; S., Gabrielli; L., Laurenti; R., Marasca; S., Rasi; M., Fangazio; Guarini, Anna; G., Gaidano; Foa, Roberto. - In: HAEMATOLOGICA. - ISSN 0390-6078. - 97:3(2012), pp. 437-441. [10.3324/haematol.2011.060129]

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

DEL GIUDICE, ILARIA;CHIARETTI, sabina;TAVOLARO, SIMONA;GUARINI, Anna;FOA, Roberto
2012

Abstract

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.
2012
chronic lymphocytic leukemia; gene expression profile; notch1 mutations; prognosis; trisomy 12
01 Pubblicazione su rivista::01a Articolo in rivista
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 / DEL GIUDICE, Ilaria; D., Rossi; Chiaretti, Sabina; M., Marinelli; Tavolaro, Simona; S., Gabrielli; L., Laurenti; R., Marasca; S., Rasi; M., Fangazio; Guarini, Anna; G., Gaidano; Foa, Roberto. - In: HAEMATOLOGICA. - ISSN 0390-6078. - 97:3(2012), pp. 437-441. [10.3324/haematol.2011.060129]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/439320
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