ETV6 mutations in early immature human T cell leukemias

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2011Author
Vlierberghe, Pieter Van
Ambesi Impiombato, Alberto
Pérez-García, Arianne
Haydu, J. Erika
Rigo, Isaura
Hadler, Michael
Tosello, Valeria
Della Gatta, Giusy
Paietta, Elisabeth
Racevskis, Janis
Wiernik, Peter H.
Luger, Selina M.
Rowe, Jacob M.
Ferrando, Adolfo A.
Suggested citation
Vlierberghe, Pieter Van;
Ambesi Impiombato, Alberto;
Pérez-García, Arianne;
Haydu, J. Erika;
Rigo, Isaura;
Hadler, Michael;
...
Ferrando, Adolfo A..
(2011)
.
ETV6 mutations in early immature human T cell leukemias.
The Journal of Experimental Medicine, 2011, vol. 208, núm. 13, p. 2571-2579.
https://doi.org/10.1084/jem.20112239.
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Show full item recordAbstract
Early immature T cell acute lymphoblastic leukemias (T-ALLs) account for 5–10% of
pediatric T-ALLs and are associated with poor prognosis. However, the genetic defects that
drive the biology of these tumors remain largely unknown. In this study, analysis of microarray
gene expression signatures in adult T-ALL demonstrated a high prevalence of early
immature leukemias and revealed a close relationship between these tumors and myeloid
leukemias. Many adult immature T-ALLs harbored mutations in myeloid-specific oncogenes
and tumor suppressors including IDH1, IDH2, DNMT3A, FLT3, and NRAS. Moreover, we
identified ETV6 mutations as a novel genetic lesion uniquely present in immature adult T-ALL.
Our results demonstrate that early immature adult T-ALL represents a heterogeneous
category of leukemias characterized by the presence of overlapping myeloid and T-ALL
characteristics, and highlight the potential role of ETV6 mutations in these tumors.
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The Journal of Experimental Medicine, 2011, vol. 208, núm. 13, p. 2571-2579European research projects
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