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Recurrent TET2 mutations in adult T cell leukemia (ATL) and identification of a Single Nucleotide polymorphism in TET2 region predisposing to ATL development

Deregulation of DNA methylation, such as inactivation of the Ten-Eleven Translocation 2 (TET2) gene by haplo-insufficiency, has been recently identified in malignant hematologic diseases. Inactivating mutations of TET2 were first described in myeloid disorders and more recently in peripheral T-cell lymphomas especially those that are harboring T follicular helper features like angio-immunoblastic T cell lymphoma. In order to determine new oncogenic pathways in Adult T cell leukemia/lymphoma (ATLL), we investigated the presence of TET2 coding sequence mutations and their clinical relevance in a retrospective cohort of 66 ATL patients. We identified mono allelic inactivating mutations of TET2 gene in 12 patients of 66 analyzed (18%). Of the 51 patients with aggressive forms (acute and lymphoma), 11 (22%) had TET2 mutations while only one (7%) of the 12 patients with indolent forms had a TET2 mutation. Of the 12 mutated patients, 8 showed the same recurrent point mutation known as a Single Nucleotide polymorphism (SNP), which creates a frameshift resulting in the introduction of premature stop codon in one allele and lead to haplo-insufficiency. We have characterized this SNP and demonstrated that the mutated gene encodes for a truncated form of Tet2 that is no longer catalytically active. We then addressed whether this mutation could predispose to ATL development by sequencing the TET2 SNP region in 50 HTLV-1 carriers from French Guyana matching the African or French Caribbean origins of the patients. We found that the percentage of the mutation in this control population was around 4%, which is similar to that of the African population and is three fold less than in our ATL cohort. This finding suggests that this mutation could be a predisposal factor for developing an ATL. In conclusion, we have showed that TET2 mutations are frequently associated with ATL, notably the aggressive forms, and that a TET2 SNP may predispose to ATL development.

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Correspondence to Ambroise Marçais.

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and Olivier Hermine contributed equally to this work.

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This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.

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Marçais, A., Hanssens, K., Waast, L. et al. Recurrent TET2 mutations in adult T cell leukemia (ATL) and identification of a Single Nucleotide polymorphism in TET2 region predisposing to ATL development. Retrovirology 12 (Suppl 1), O12 (2015).

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