Cell Death and Disease · 2022 · 39 citations · 68 references
MedicineOncologyPharmacologyMetastasisMolecular OncologyNeoplasiaCancer Cell SignalingMalignant NeoplasmsSalivary Gland CancerSalivary Gland MalignanciesSignal Transduction In CancerActivating MutationsAntineoplastic Drug TherapyCell Line-derived Xenograft ModelsMutations In Notch Signaling PathwayNotch Receptor SignalingNotch ReceptorsNotch Signaling ActivationNotch Signaling Disruption
Adenoid cystic carcinoma (ACC) is an aggressive salivary gland malignancy with limited treatment options for recurrent or metastatic disease. Due to chemotherapy resistance and lack of targeted therapeutic approaches, current treatment options for the localized disease are limited to surgery and radiation, which fails to prevent locoregional recurrences and distant metastases in over 50% of patients. Approximately 20% of patients with ACC carry NOTCH-activating mutations that are associated with a distinct phenotype, aggressive disease, and poor prognosis. Given the role of NOTCH signaling in regulating tumor cell behavior, NOTCH inhibitors represent an attractive potential therapeutic strategy for this subset of ACC. AL101 (osugacestat) is a potent γ-secretase inhibitor that prevents activation of all four NOTCH receptors. While this investigational new drug has demonstrated antineoplastic activity in several preclinical cancer models and in patients with advanced solid malignancies, we are the first to study the therapeutic benefit of AL101 in ACC. Here, we describe the antitumor activity of AL101 using ACC cell lines, organoids, and patient-derived xenograft models. Specifically, we find that AL101 has potent antitumor effects in in vitro and in vivo models of ACC with activating NOTCH1 mutations and constitutively upregulated NOTCH signaling pathway, providing a strong rationale for evaluation of AL101 in clinical trials for patients with NOTCH-driven relapsed/refractory ACC.
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STAR: ultrafast universal RNA-seq aligner
Alexander Dobin, Carrie Davis, Felix Schlesinger et al. · Bioinformatics · 2012 · 56.2K citations · Full text
Cutadapt removes adapter sequences from high-throughput sequencing reads
Marcel Martin · EMBnet journal · 2011 · 35.8K citations · Full text