Research Papers:
Fusion of the genes ataxin 2 like, ATXN2L, and Janus kinase 2, JAK2, in cutaneous CD4 positive T-cell lymphoma
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Abstract
Ioannis Panagopoulos1, Ludmila Gorunova1, Signe Spetalen2, Assia Bassarova2, Klaus Beiske2, Francesca Micci1 and Sverre Heim1,3
1Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway
2Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway
3Faculty of Medicine, University of Oslo, Oslo, Norway
Correspondence to:
Ioannis Panagopoulos, email: [email protected]
Keywords: primary cutaneous CD4 positive T-cell lymphoma, cytogenetics, RNA-sequencing, ATXN2L-JAK2 fusion gene
Received: September 07, 2017 Accepted: September 21, 2017 Published: October 10, 2017
ABSTRACT
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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