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.
Features:
(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
