ETV6 mutations in early immature human T cell leukemias

Pieter Van Vlierberghe, Alberto Ambesi-Impiombato, Arianne Perez-Garcia, J. Erika Haydu, Isaura Rigo, Michael Hadler, Valeria Tosello, Giusy Della Gatta, Elisabeth M. Paietta, Janis Racevskis, Peter H. Wiernik, Selina M. Luger, Jacob M. Rowe, Montserrat Rue, Adolfo A. Ferrando

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)2571-2579
Number of pages9
JournalJournal of Experimental Medicine
Volume208
Issue number13
DOIs
StatePublished - Dec 19 2011

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T-Cell Leukemia
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Mutation
Neoplasms
Leukemia
Myeloid Leukemia
Myeloid Cells
Microarray Analysis
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Oncogenes
Transcriptome
Pediatrics
T-Lymphocytes

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

Cite this

Vlierberghe, P. V., Ambesi-Impiombato, A., Perez-Garcia, A., Haydu, J. E., Rigo, I., Hadler, M., ... Ferrando, A. A. (2011). ETV6 mutations in early immature human T cell leukemias. Journal of Experimental Medicine, 208(13), 2571-2579. https://doi.org/10.1084/jem.20112239

ETV6 mutations in early immature human T cell leukemias. / Vlierberghe, Pieter Van; Ambesi-Impiombato, Alberto; Perez-Garcia, Arianne; Haydu, J. Erika; Rigo, Isaura; Hadler, Michael; Tosello, Valeria; Gatta, Giusy Della; Paietta, Elisabeth M.; Racevskis, Janis; Wiernik, Peter H.; Luger, Selina M.; Rowe, Jacob M.; Rue, Montserrat; Ferrando, Adolfo A.

In: Journal of Experimental Medicine, Vol. 208, No. 13, 19.12.2011, p. 2571-2579.

Research output: Contribution to journalArticle

Vlierberghe, PV, Ambesi-Impiombato, A, Perez-Garcia, A, Haydu, JE, Rigo, I, Hadler, M, Tosello, V, Gatta, GD, Paietta, EM, Racevskis, J, Wiernik, PH, Luger, SM, Rowe, JM, Rue, M & Ferrando, AA 2011, 'ETV6 mutations in early immature human T cell leukemias', Journal of Experimental Medicine, vol. 208, no. 13, pp. 2571-2579. https://doi.org/10.1084/jem.20112239
Vlierberghe PV, Ambesi-Impiombato A, Perez-Garcia A, Haydu JE, Rigo I, Hadler M et al. ETV6 mutations in early immature human T cell leukemias. Journal of Experimental Medicine. 2011 Dec 19;208(13):2571-2579. https://doi.org/10.1084/jem.20112239
Vlierberghe, Pieter Van ; Ambesi-Impiombato, Alberto ; Perez-Garcia, Arianne ; Haydu, J. Erika ; Rigo, Isaura ; Hadler, Michael ; Tosello, Valeria ; Gatta, Giusy Della ; Paietta, Elisabeth M. ; Racevskis, Janis ; Wiernik, Peter H. ; Luger, Selina M. ; Rowe, Jacob M. ; Rue, Montserrat ; Ferrando, Adolfo A. / ETV6 mutations in early immature human T cell leukemias. In: Journal of Experimental Medicine. 2011 ; Vol. 208, No. 13. pp. 2571-2579.
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