Journal
ONCOTARGET
Volume 8, Issue 61, Pages 103775-103784Publisher
IMPACT JOURNALS LLC
DOI: 10.18632/oncotarget.21790
Keywords
primary cutaneous CD4 positive T-cell lymphoma; cytogenetics; RNA-sequencing; ATXN2L-JAK2 fusion gene
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Funding
- Norwegian Radium Hospital Foundation
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Acquired mutations were recently described in cutaneous T-cell lymphomas for the JAK1, JAK3, STAT3, and STAT5B genes of the JAK-STAT pathway. In the present study, RNA-sequencing of a primary cutaneous CD4 positive T-cell lymphoma carrying a three-way t(9; 13; 16)(p24; q34; p11) chromosome translocation showed that JAK2 from chromosome band 9p24 was rearranged and fused to a novel partner gene, ATXN2L, from 16p11. RT-PCR together with Sanger sequencing verified the presence of the ATXN2L-JAK2 fusion transcript. The ATXN2L-JAK2 fusion gene would code for a chimeric protein containing all domains of ATXN2L and the catalytic domain of the JAK2 tyrosine kinase. The ATXN2L-JAK2 chimeric protein could lead to constitutive activation of the downstream JAK-STAT signaling pathway in a manner similar to that seen for other JAK2 fusion proteins.
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