PAX5 mutations occur frequently in adult B-cell progenitor acute lymphoblastic leukemia and PAX5 haploinsufficiency is associated with BCR-ABL1 and TCF3-PBX1 fusion genes: a GRAALL study

@article{Familiades2009PAX5MO,
  title={PAX5 mutations occur frequently in adult B-cell progenitor acute lymphoblastic leukemia and PAX5 haploinsufficiency is associated with BCR-ABL1 and TCF3-PBX1 fusion genes: a GRAALL study},
  author={Julien Familiades and Marina Bousquet and Marina Lafage-Pochitaloff and M E B{\'e}n{\'e} and Khe{\"i}ra Beldjord and Jens De Vos and Nicole Dastugue and Etienne Coyaud and St{\'e}phanie Struski and Cathy Quelen and Nais Prade-Houdellier and Sophie Dobbelstein and J M Cayuela and J Steve Soulier and Nathalie Grardel and Claude Joseph Preudhomme and H{\'e}l{\`e}ne Cav{\'e} and Odile Blanchet and V{\'e}ronique Lh{\'e}ritier and Andr{\'e} Delannoy and Yves Chalandon and Norbert Ifrah and Arnaud Pigneux and P. Brousset and E A Macintyre and Françoise Huguet and Herv{\'e} Dombret and Cyril Broccardo and {\'E} Delabesse},
  journal={Leukemia},
  year={2009},
  volume={23},
  pages={1989-1998}
}
Adult and child B-cell progenitor acute lymphoblastic leukemia (BCP-ALL) differ in terms of incidence and prognosis. These disparities are mainly due to the molecular abnormalities associated with these two clinical entities. A genome-wide analysis using oligo SNP arrays recently demonstrated that PAX5 (paired-box domain 5) is the main target of somatic mutations in childhood BCP-ALL being altered in 38.9% of the cases. We report here the most extensive analysis of alterations of PAX5 coding… CONTINUE READING