biostudies-literatureUnknown8(61)Panagopoulos IAcquired mutations were recently described in cutaneous T-cell lymphomas for the <i>JAK1</i>, <i>JAK3</i>, <i>STAT3</i>, and <i>STAT5B</i> 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 <i>JAK2</i> from chromosome band 9p24 was rearranged and fused to a novel partner gene, <i>ATXN2L</i>, from 16p11. RT-PCR together with Sanger sequencing verified the presence of the <i>ATXN2L-JAK2</i> fusion transcript. The <i>ATXN2L-JAK2</i> 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 downOncotarget103775-103784https://www.ebi.ac.uk/biostudies/studies/S-EPMC5732765biostudies-literatureFusion of the genes ataxin 2 like, <i>ATXN2L</i>, and Janus kinase 2, <i>JAK2</i>, in cutaneous CD4 positive T-cell lymphoma.PMC5732765Panagopoulos IGorunova LSpetalen SBeiske KHeim SBassarova AMicci FfalseFusion of the genes ataxin 2 like, <i>ATXN2L</i>, and Janus kinase 2, <i>JAK2</i>, in cutaneous CD4 positive T-cell lymphoma.Acquired mutations were recently described in cutaneous T-cell lymphomas for the <i>JAK1</i>, <i>JAK3</i>, <i>STAT3</i>, and <i>STAT5B</i> 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 <i>JAK2</i> from chromosome band 9p24 was rearranged and fused to a novel partner gene, <i>ATXN2L</i>, from 16p11. RT-PCR together with Sanger sequencing verified the presence of the <i>ATXN2L-JAK2</i> fusion transcript. The <i>ATXN2L-JAK2</i> 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 down2017-01-01T00:00:00Z2017 Nov2025-04-26T07:36:20.785Z2019-03-27T03:05:00ZS-EPMC57327652926259910.18632/oncotarget.21790