Paediatric B lymphoblastic leukaemia with hyperdiploidy and a false-positive KMT2A fluorescence in situ hybridization result

Acute lymphoblastic leukaemia (ALL) is the most common cause of childhood cancer. [1 –4] Paediatric ALL event-free survival (EFS) has improved dramatically, with EFS of over 85%.[5] With improved understanding of leukaemia biology, patients now receive risk stratified treatment based on a combination of clinical features, cytogenetic abnormalities and response to treatment. High h yperdiploidy, defined as>50 chromosomes, is seen in 25-30% of paediatric B-lymphoblastic leukaemia (B-ALL). [6,7] The presence of high hyperdiploidy is considered a favourable disease feature, however the underlying pathways that account for the favourable response to therapy in this group are not fully understood.[8,9] Conversely, KMT2A-rearranged (KMT2A-r) ALL is associated with a poor prognosis, with long-term survival rates of
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Tags: Short Communication Source Type: research