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 Blood, 1 March 2007, Vol. 109, No. 5, pp. 2202-2204.
Prepublished online as a Blood First Edition Paper on October 26, 2006; DOI 10.1182/blood-2006-09-045963.

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NEOPLASIA

Brief Report

Novel activating JAK2 mutation in a patient with Down syndrome and B-cell precursor acute lymphoblastic leukemia

Sebastien Malinge1,2, Raouf Ben-Abdelali3, Catherine Settegrana3, Isabelle Radford-Weiss1,3, Marianne Debre4,5, Kheira Beldjord1,3, Elizabeth A. Macintyre1,3, Jean-Luc Villeval6,7, William Vainchenker6,7, Roland Berger1,2, Olivier A. Bernard1,2, Eric Delabesse1,3, and Virginie Penard-Lacronique1,2

1 Institut National de la Santé et de la Recherche Scientifique (INSERM), E0210, Paris, France; 2 Université René Descartes, Paris, France; 3 Assistance Publique–Hôpitaux de Paris (APHP), Laboratoire d'Hématologie Biologique, Hôpital Necker-Enfants Malades, Paris, France; 4 APHP, Laboratoire de Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France; 5 INSERM, U768, Hôpital Necker-Enfants Malades, Paris, France; 6 INSERM, U790, Institut Fédératif de Recherche (IFR) 54, Institut Gustave Roussy, Villejuif, France; 7 Université Paris XI, Orsay, France

Activation of tyrosine kinase genes is a frequent event in human hematologic malignancies. Because gene activation could be associated with gene dysregulation, we attempted to screen for activating gene mutation based on high-level gene expression. We focused our study on the Janus kinase 2 (JAK2) gene in 90 cases of acute leukemia. This strategy led to the identification of a novel JAK2-acquired mutation in a patient with Down syndrome (DS) with B-cell precursor acute lymphoblastic leukemia (BCP-ALL). This mutation involves a 5–amino acid deletion within the JH2 pseudokinase domain (JAK2{Delta}IREED). Expression of JAK2{Delta}IREED in Ba/F3 cells induced constitutive activation of the JAK-STAT pathway and growth factor–independent cell proliferation. These results highlight the JAK2 pseudokinase domain as an oncogenic hot spot and indicate that activation of the JAK-STAT pathway may contribute to lymphoid malignancies and hematologic disorders observed in children with DS.


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