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=.003) and +12 as a sole cytogenetic abnormality (p=.008). NOTCH1 mutations in +12 CLL associated with a ~2.4 fold increase in the death risk, a significant survival shortening (p<.001) and proved 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 biologic contribution of NOTCH1 mutations in determining 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, I; Rossi, D; Chiaretti, S; Marinelli, M; Tavolaro, S; Gabrielli, S; Laurenti, L; Marasca, Roberto; Rasi, S; Fangazio, M; Guarini, A; Gaidano, G; Foa', R.. - In: HAEMATOLOGICA. - ISSN 0390-6078. - STAMPA. - 97:(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

MARASCA, 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=.003) and +12 as a sole cytogenetic abnormality (p=.008). NOTCH1 mutations in +12 CLL associated with a ~2.4 fold increase in the death risk, a significant survival shortening (p<.001) and proved 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 biologic contribution of NOTCH1 mutations in determining a poor outcome. NOTCH1 mutations refine the intermediate prognosis of +12 CLL
2012
97
437
441
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, I; Rossi, D; Chiaretti, S; Marinelli, M; Tavolaro, S; Gabrielli, S; Laurenti, L; Marasca, Roberto; Rasi, S; Fangazio, M; Guarini, A; Gaidano, G; Foa', R.. - In: HAEMATOLOGICA. - ISSN 0390-6078. - STAMPA. - 97:(2012), pp. 437-441. [10.3324/haematol.2011.060129]
Del Giudice, I; Rossi, D; Chiaretti, S; Marinelli, M; Tavolaro, S; Gabrielli, S; Laurenti, L; Marasca, Roberto; Rasi, S; Fangazio, M; Guarini, A; Gaidano, G; Foa', R.
File in questo prodotto:
File Dimensione Formato  
437.full.pdf

Open access

Tipologia: Versione pubblicata dall'editore
Dimensione 760.75 kB
Formato Adobe PDF
760.75 kB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/708763
Citazioni
  • ???jsp.display-item.citation.pmc??? 71
  • Scopus 167
  • ???jsp.display-item.citation.isi??? 146
social impact