作者
N Villamor, L Conde, Alejandra Martínez-Trillos, M Cazorla, A Navarro, S Bea, C López, D Colomer, M Pinyol, M Aymerich, M Rozman, P Abrisqueta, T Baumann, J Delgado, E Giné, M González-Díaz, JM Hernández, E Colado, AR Payer, C Rayon, B Navarro, M José Terol, F Bosch, V Quesada, XS Puente, C López-Otín, P Jares, A Pereira, E Campo, A López-Guillermo
发表日期
2013/5
期刊
Leukemia
卷号
27
期号
5
页码范围
1100-1106
出版商
Nature Publishing Group
简介
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. Sequential analysis in 200 patients demonstrated acquisition of mutation in one case (0.5%) and disappearance after treatment in two. Binet A and B patients with NOTCH1-mutated had a shorter time to treatment. NOTCH1-mutated patients were more frequently refractory to therapy and showed shorter progression-free and overall survival after complete remission. Overall survival was shorter in NOTCH1-mutated patients, although not independently from IGHV. NOTCH1 mutation increased the …
学术搜索中的文章
N Villamor, L Conde, A Martínez-Trillos, M Cazorla… - Leukemia, 2013