Characterization of activating mutations of NOTCH3 in T-cell acute lymphoblastic leukemia and anti-leukemic activity of NOTCH3 inhibitory antibodies

P Bernasconi-Elias, T Hu, D Jenkins, B Firestone… - Oncogene, 2016 - nature.com
P Bernasconi-Elias, T Hu, D Jenkins, B Firestone, S Gans, E Kurth, P Capodieci…
Oncogene, 2016nature.com
Notch receptors have been implicated as oncogenic drivers in several cancers, the most
notable example being NOTCH1 in T-cell acute lymphoblastic leukemia (T-ALL). To
characterize the role of activated NOTCH3 in cancer, we generated an antibody that detects
the neo-epitope created upon gamma-secretase cleavage of NOTCH3 to release its
intracellular domain (ICD3), and sequenced the negative regulatory region (NRR) and PEST
(proline, glutamate, serine, threonine) domain coding regions of NOTCH3 in a panel of cell …
Abstract
Notch receptors have been implicated as oncogenic drivers in several cancers, the most notable example being NOTCH1 in T-cell acute lymphoblastic leukemia (T-ALL). To characterize the role of activated NOTCH3 in cancer, we generated an antibody that detects the neo-epitope created upon gamma-secretase cleavage of NOTCH3 to release its intracellular domain (ICD3), and sequenced the negative regulatory region (NRR) and PEST (proline, glutamate, serine, threonine) domain coding regions of NOTCH3 in a panel of cell lines. We also characterize NOTCH3 tumor-associated mutations that result in activation of signaling and report new inhibitory antibodies. We determined the structural basis for receptor inhibition by obtaining the first co-crystal structure of a NOTCH3 antibody with the NRR protein and defined two distinct epitopes for NRR antibodies. The antibodies exhibit potent anti-leukemic activity in cell lines and tumor xenografts harboring NOTCH3 activating mutations. Screening of primary T-ALL samples reveals that 2 of 40 tumors examined show active NOTCH3 signaling. We also identified evidence of NOTCH3 activation in 12 of 24 patient-derived orthotopic xenograft models, 2 of which exhibit activation of NOTCH3 without activation of NOTCH1. Our studies provide additional insights into NOTCH3 activation and offer a path forward for identification of cancers that are likely to respond to therapy with NOTCH3 selective inhibitory antibodies.
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