A mechanistic classification of clinical phenotypes in neuroblastoma

• DOI: 10.1126/science.aat6768
• Publication Date: 2018-12-07T00:05:32Z
• Authors: Sandra Ackermann; Maria Cartolano; Barbara Hero; Anne Welte; Yvonne Kahlert; Andrea Roderwieser; Christoph Bartenh...; Esther Walter; Judith Gecht; Laura Kerschke; Ruth Volland; Roopika Menon; Johannes M. Heuck...; Moritz Gartlgruber; Sabine Hartlieb; Kai-Oliver Henrich; Konstantin Okonec...; Janine Altmüller; Peter Nürnberg; Steve Lefever; Bram de Wilde; Frederik Sand; Fakhera Ikram; Carolina Rosswog; Janina Fischer; Jessica Theissen; Falk Hertwig; Aatur D. Singhi; Thorsten Simon; Wenzel Vogel; Sven Perner; Barbara Krug; Matthias Schmidt; Sven Rahmann; Viktor Achter; Ulrich Lang; Christian Vokuhl; Monika Ortmann; Reinhard Büttner; Angelika Eggert; Frank Speleman; Roderick J. O’Sul...; Roman K. Thomas; Frank Berthold; Jo Vandesompele; Alexander Schramm; Frank Westermann; Johannes H. Schulte; Martin Peifer; Matthias Fischer
• Keywords: 0303 health sciences; Genome, Human; Medizin; Telomere Homeostasis; Sequence Analysis, DNA; Prognosis; Disease-Free Survival; 3. Good health; Neuroblastoma; 03 medical and health sciences; Child, Preschool; Mutation; ras Proteins; Humans; Exome; Tumor Suppressor Protein p53; Child; Metabolic Networks and Pathways

A systematic look at a childhood tumor Neuroblastomas—the most common type in infants—develop from fetal nerve cells, and their clinical course is highly variable. Some neuroblastomas are fatal despite treatment, whereas others respond well to treatment some undergo spontaneous regression without treatment. Ackermann et al. sequenced more than 400 pretreatment identified molecular features that characterize the three distinct outcomes. Low-risk tumors lack telomere maintenance mechanisms, intermediate-risk harbor high-risk mechanisms combination with RAS and/or p53 pathway mutations. Science , this issue p. 1165