Article
NOTCH1 mutations identify a genetic subgroup of chronic lymphocytic leukemia patients with high risk of transformation and poor outcome.
Leukemia - 1 Apr 2013
Villamor N, Conde L, Martínez-Trillos A, Cazorla M, Navarro A, Beà S, López C, Colomer D, Pinyol M, Aymerich M, Rozman M, Abrisqueta P, Baumann T, Delgado J, Giné E, González-Díaz M, Hernández J M, Colado E, Payer A R, Rayon C, Navarro B, José Terol M, Bosch F, Quesada V, Puente X S, López-Otín C, Jares P, Pereira A, Campo E, López-Guillermo A
Abstract excerpt
NOTCH1 has been found recurrently mutated in a subset of patients with chronic lymphocytic leukemia (CLL). To analyze biological features and clinical impact of NOTCH1 mutations in CLL, we sequenced this gene in 565 patients. NOTCH1 mutations, found in 63 patients (11%), were associated with unmutated IGHV, high expression of CD38 and ZAP-70, trisomy 12, advanced stage and elevated lactate dehydrogenase....
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