Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome.

doi:10.1016/S0140-6736(08)61341-0

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Article

Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome.

Lancet (London, England) - 25 Oct 2008

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

Abstract excerpt

BACKGROUND: 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...

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Identifiers

PMID: 18805579
DOI: 10.1016/S0140-6736(08)61341-0

Genes

JAK2
GATA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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