The TEL/AML1 fusion gene is brought about by the cytogenetically invisible t(12;21) translocation. The rearrangement is the most common in childhood B-ALL and has been detected using FISH in around 21% of cases, compared to a pick-up rate of 0.05% by conventional cytogenetics. The translocation is associated with a favourable outcome though it has also been implicated with late relapse. Both the TEL1 and AML1 genes encode transcription factors but TEL1 has been shown to be required specifically for completing transcription during haematopoiesis within bone marrow.
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