Some patients with acute lymphoblastic leukemia (ALL) have a mutation involving MEF2D.

Chromosome: 1q22

Gene: MEF2D (myocyte enhancer factor 2D)

Normal function: transcription factor involved in control of cell differentiation

Effect of mutations in ALL patients: promote cell growth


Mutations involving the gene are associated with B-cell precursor ALL.



(1) leukemic cells often resemble mature B-cell leukemia but not always

(2) clinically resembles Burkitt lymphoma/leukemia

(3) there is a high rate of early relapse or primary refractoriness to therapy

(4) it is associated with a poor prognosis

(5) cells with MEF2D-BCL9 fusion show high expression of HDAC9

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