TY - JOUR
T1 - ETV6 mutations in early immature human T cell leukemias
AU - Vlierberghe, Pieter Van
AU - Ambesi-Impiombato, Alberto
AU - Perez-Garcia, Arianne
AU - Haydu, J. Erika
AU - Rigo, Isaura
AU - Hadler, Michael
AU - Tosello, Valeria
AU - Gatta, Giusy Della
AU - Paietta, Elisabeth
AU - Racevskis, Janis
AU - Wiernik, Peter H.
AU - Luger, Selina M.
AU - Rowe, Jacob M.
AU - Rue, Montserrat
AU - Ferrando, Adolfo A.
PY - 2011/12/19
Y1 - 2011/12/19
N2 - 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.
AB - 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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U2 - 10.1084/jem.20112239
DO - 10.1084/jem.20112239
M3 - Article
C2 - 22162831
AN - SCOPUS:84855508998
SN - 0022-1007
VL - 208
SP - 2571
EP - 2579
JO - Journal of Experimental Medicine
JF - Journal of Experimental Medicine
IS - 13
ER -