NOTCH1 mutations identify a genetic subgroup of chronic lymphocytic leukemia patients with high risk of transformation and poor outcome

@article{Villamor2013NOTCH1MI,
  title={NOTCH1 mutations identify a genetic subgroup of chronic lymphocytic leukemia patients with high risk of transformation and poor outcome},
  author={Neus Villamor and Laura Conde and Alejandra Mart{\'i}nez-Trillos and Maite Cazorla and Alba Navarro and S{\'i}lvia Be{\`a} and Cristina Garc{\'i}a L{\'o}pez and Dolors Colomer and Magda Pinyol and Marta Aymerich and Mar{\'i}a Rozman and Pau Abrisqueta and Tycho Baumann and Julio Delgado and Eva Gin{\'e} and Marcos Gonz{\'a}lez-D{\'i}az and Jos{\'e} Mariano Hern{\'a}ndez and Enrique Colado and Angel Ramirez Payer and Chelo Ray{\'o}n and Blanca Navarro and Mar{\'i}a Jos{\'e} Terol and Francesc Bosch and V{\'i}ctor Quesada and Xose S. Puente and Carlos L{\'o}pez-Ot{\'i}n and Pedro Jares and Arturo Pereira and El{\'i}as Campo and Armando L{\'o}pez-Guillermo},
  journal={Leukemia},
  year={2013},
  volume={27},
  pages={1100-1106}
}
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… CONTINUE READING