LYMPHOID NEOPLASIA JAK2 rearrangements, including the novel SEC31A-JAK2 fusion, are recurrent in classical Hodgkin lymphoma
نویسندگان
چکیده
1Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium; 2VIB Department of Molecular and Developmental Genetics, VIB, Leuven, Belgium; 3Morphology and Molecular Pathology Section, University Hospitals Leuven, Leuven, Belgium; 4Laboratory of Hematology, AZ St Jan AV, Brugge, Belgium; 5Department of Pathology, AZ St Jan AV, Brugge, Belgium; and 6Department of Hematology, University Hospitals Leuven, Leuven, Belgium
منابع مشابه
JAK2 rearrangements, including the novel SEC31A-JAK2 fusion, are recurrent in classical Hodgkin lymphoma.
The genetics of classical Hodgkin lymphoma (cHL) is poorly understood. The finding of a JAK2-involving t(4;9)(q21;p24) in 1 case of cHL prompted us to characterize this translocation on a molecular level and to determine the prevalence of JAK2 rearrangements in cHL. We showed that the t(4;9)(q21;p24) leads to a novel SEC31A-JAK2 fusion. Screening of 131 cHL cases identified 1 additional case wi...
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Activating JAK2 mutations can arise from chromosomal translocations or point mutations/deletions/insertions. The former result in JAK2 fusion proteins that always involve the JAK2 kinase domain (JH1), in association with an oligomerization domain from one of several partner proteins, which promotes constitutive JAK2 phosphorylation and signal activation. Tumor phenotypes associated with JAK2 fu...
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