ETV6 mutations in early immature human T cell leukemias

被引：171

作者：

Van Vlierberghe, Pieter ^{[1
]}

Ambesi-Impiombato, Alberto ^{[1
]}

Perez-Garcia, Arianne ^{[1
]}

Haydu, J. Erika ^{[1
]}

Rigo, Isaura ^{[1
]}

Hadler, Michael ^{[1
]}

Tosello, Valeria ^{[1
]}

Della Gatta, Giusy ^{[1
]}

Paietta, Elisabeth ^{[4
]}

Racevskis, Janis ^{[4
]}

Wiernik, Peter H. ^{[4
]}

Luger, Selina M. ^{[5
]}

Rowe, Jacob M. ^{[6
]}

Rue, Montserrat ^{[7
]}

Ferrando, Adolfo A. ^{[1
,2
,3
]}

机构：

[1] Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10032 USA

[2] Columbia Univ, Med Ctr, Dept Pediat, New York, NY 10032 USA

[3] Columbia Univ, Med Ctr, Dept Pathol, New York, NY 10032 USA

[4] Montefiore Med Ctr N, Bronx, NY 10467 USA

[5] Univ Penn, Med Ctr, Hematol Malignancies & Stem Cell Transplant Progr, Hematol Oncol Div, Philadelphia, PA 19104 USA

[6] Rambam Med Ctr, IL-31096 Haifa, Israel

[7] Univ Lleida, Dept Basic Med Sci, Lleida 25003, Spain

来源：

JOURNAL OF EXPERIMENTAL MEDICINE | 2011年 / 208卷 / 13期

基金：

美国国家卫生研究院;

关键词：

HEMATOPOIETIC STEM-CELLS; TUMOR-SUPPRESSOR; CLASS DISCOVERY; GENE; EXPRESSION; NOTCH1; REGULATOR; PROTEIN; TLX1; TEL;

D O I：

10.1084/jem.20112239

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

071005 [微生物学]; 100108 [医学免疫学];

摘要：

Early immature T cell acute lymphoblastic leukemias (T-ALLs) account for. similar to 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 micro-array 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.

引用

页码：2571 / 2579

页数：9

共 37 条

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