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- Title
Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia.
- Authors
Weng, Andrew P; Ferrando, Adolfo A; Lee, Woojoong; Morris, John P, 4th; Silverman, Lewis B; Sanchez-Irizarry, Cheryll; Blacklow, Stephen C; Look, A Thomas; Aster, Jon C
- 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.
- Publication
Science (New York, N.Y.), 2004, Vol 306, Issue 5694, p269
- ISSN
1095-9203
- Publication type
Journal Article
- DOI
10.1126/science.1102160