Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome by Bercovich Dani, Ganmore Ithamar, Scott Linda M, Wainreb Gilad, Birger Yehudit, Elimelech Arava, Shochat Chen, Cazzaniga Giovanni, Biondi Andrea, Basso Giuseppe, Cario Gunnar, Schrappe Martin, Stanulla Martin, Strehl Sabine, Haas Oskar A, Mann Georg, Binder Vera, Borkhardt Arndt, Kempski Helena, Trka Jan, Bielorei Bella, Avigad Smadar, Stark Batia, Smith Owen, Dastugue Nicole, Bourquin Jean-Pierre, Tal Nir Ben, Green Anthony R, Izraeli Shai in Lancet (2008).

[PMID: 18805579] PubMed


Children with Down's syndrome have a greatly increased risk of acute megakaryoblastic and acute lymphoblastic leukaemias. Acute megakaryoblastic leukaemia in Down's syndrome is characterised by a somatic mutation in GATA1. Constitutive activation of the JAK/STAT (Janus kinase and signal transducer and activator of transcription) pathway occurs in several haematopoietic malignant diseases. We tested the hypothesis that mutations in JAK2 might be a common molecular event in acute lymphoblastic leukaemia associated with Down's syndrome.

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