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

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

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...

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Veröffentlicht in:Haematologica (Roma) 2012-03, Vol.97 (3), p.437-441
Hauptverfasser: DEL GIUDICE, Ilaria, ROSSI, Davide, GUARINI, Anna, GAIDANO, Gianluca, FOA, Robin, CHIARETTI, Sabina, MARINELLI, Marilisa, TAVOLARO, Simona, GABRIELLI, Sara, LAURENTI, Luca, MARASCA, Roberto, RASI, Silvia, FANGAZIO, Marco
Format: Artikel
Sprache:eng
Schlagworte:
Aged
Biological and medical sciences
Chromosomes, Human, Pair 12
Female
Gene Expression Profiling
Hematologic and hematopoietic diseases
Humans
Leukemia, Lymphocytic, Chronic, B-Cell - genetics
Leukemia, Lymphocytic, Chronic, B-Cell - mortality
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Male
Medical sciences
Middle Aged
Mutation
Mutation Rate
Original and Brief Reports
Prognosis
Receptor, Notch1 - genetics
Survival Analysis
Transcription, Genetic
Trisomy
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Zusammenfassung: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
ISSN:0390-6078
1592-8721
DOI:10.3324/haematol.2011.060129