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. 2004 Oct 8;306(5694):269-71.
doi: 10.1126/science.1102160.

Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia

Andrew P Weng  1 , Adolfo A Ferrando, Woojoong Lee, John P Morris 4th, Lewis B Silverman, Cheryll Sanchez-Irizarry, Stephen C Blacklow, A Thomas Look, Jon C Aster
Affiliations

Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia

Andrew P Weng et al. Science. .

Abstract

Very rare cases of human T cell acute lymphoblastic leukemia (T-ALL) harbor chromosomal translocations that involve NOTCH1, a gene encoding a transmembrane receptor that regulates normal T cell development. Here, we report that more than 50% of human T-ALLs, including tumors from all major molecular oncogenic subtypes, have activating mutations that involve the extracellular heterodimerization domain and/or the C-terminal PEST domain of NOTCH1. These findings greatly expand the role of activated NOTCH1 in the molecular pathogenesis of human T-ALL and provide a strong rationale for targeted therapies that interfere with NOTCH signaling.

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