Abstract

Acute lymphoblastic leukemia (ALL) with KMT2A rearrangement is associated with poor prognosis. The t(4;11)(q21;q23) resulting in KMT2A-AFF1 fusion represents one of the most common translocations involving the KMT2A locus, comprising 2% of pediatric ALL and 5% of adult ALL cases. Pediatric patients, especially infants with t(4;11)(q21;q23), have been reported to have fewer additional cytogenetic abnormalities (ACA) compared with other primary established cytogenetic subgroups. Some studies have thus proposed that the KMT2A-AFF1 fusion may function as a major contributor in driving and maintaining the malignancy.

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