13/11/2019 VHIR participates in a study that characterizes the consequences of the molecular alterations of the ATRX gene in adolescents and young adults who suffer from neuroblastoma 13/11/2019 The Translational Research in Child and Adolescent Cancer group has participated in a collaborative study to determine the effects of alterations in the ATRX gene in neuroblastoma The Translational Research in Child and Adolescent Cancer group of the Vall d'Hebron Research Institute (VHIR) has participated in a collaborative study led by the group of the Dra. Bernstein of the Department of Oncological Sciences of the Icahn School of Medicine of Mount Sinai in New York, to determine the effects of alterations in the epigenetic gene ATRX in Neuroblastoma.Neuroblastoma (NB) is an embryonic tumor of the sympathetic nervous system that in the vast majority of cases is diagnosed before 5 years and has a very diverse behavior, ranging from spontaneous healing to the most aggressive forms and which are incurable.Patients with ATRX alterations in neuroblastoma tend to have a more chronic and progressive course of illness. In this study, published in the journal https://www.ncbi.nlm.nih.gov/pubmed/31631027 Cancer Cell, it has been discovered that in patients who are carriers of ATRX proteins shorter than normal, they not only lose their physiological function but also that ATRX fragments bind to a site of the DNA that is not usual and inhibits the genes of cell differentiation. This fact causes the cells to become sensitive to the inhibitors of EZH2, another protein involved in cell differentiation.Overall, we show that structural alterations of ATRX are not loss of function and we present inhibitors of EZH2 as a potential therapy for neuroblastoma with this type of alterations in the ATRX gene. Twitter LinkedIn Facebook Whatsapp