Whole Exome Sequencing reveals NOTCH1 mutations in anaplastic large cell lymphoma and points to Notch both as a key pathway and a potential therapeutic target

Patients with Anaplastic Lymphoma Kinase (ALK)-positive anaplastic large cell lymphoma (ALCL), a T-cell lymphoma, are typically paediatric patients. To understand disease pathology and to uncover novel targets for therapy, Whole-Exome Sequencing (WES) of DNA extracted from patient tumours was performed. We sequenced 18 samples (see age and gender for each biosample), for four of which we also sequenced matched peripheral blood. The samples were sequenced in two batches, hence two different sequencers were used (see metadata).