Diagnosis and treatment of acute lymphoblastic leukemia in a patient with niimegen syndrome first diagnosed in adulthood

Abstract

Background. Nijmegen breakage syndrome is a rare hereditary autosomal recessive disorder characterized by microcephaly, combined primary immunodeficiency, sensitivity to radioactive radiation and liability to tumours of various nature (in particular, those developing in the lymphatic tissue). This syndrome is part of a group of diseases characterized by chromosomal instability. This disease develops as a result of mutations in the NBS1 gene, which is responsible for repairing DNA double-stranded breaks.Aim. To describe a clinical case of the diagnosis and treatment of T-cell acute lymphoblastic leukemia in a patient with Nijmegen syndrome, which was first diagnosed in adulthood.General findings. A clinical case of the diagnosis and treatment of Nijmegen syndrome in a young man with de novo T-cell acute lymphoblastic leukemia is presented. The difficulty of early diagnosis of hereditary genetic syndromes is demonstrated. The genetic character of such conditions is revealed over time, when children and young adults begin to develop long-term complications, in particular tumours of various origins. Early detection of hereditary genetic syndromes in children is of great importance.