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

Luca Laurenti, I Del Giudice, D Rossi, S Chiaretti, M Marinelli, S Tavolaro, S Gabrielli, R Marasca, S Rasi, M Fangazio, A Guarini, G Gaidano, R. Foà

Risultato della ricerca: Contributo in rivistaArticolo in rivista

144 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)437-441
Numero di pagine5
RivistaHaematologica
Volume97
DOI
Stato di pubblicazionePubblicato - 2012

Keywords

  • Aged
  • Chromosomes, Human, Pair 12
  • Female
  • Gene Expression Profiling
  • Humans
  • Leukemia, Lymphocytic, Chronic, B-Cell
  • Male
  • Middle Aged
  • Mutation
  • Mutation Rate
  • Prognosis
  • Receptor, Notch1
  • Survival Analysis
  • Transcription, Genetic
  • Trisomy

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