HLA-Matched and HLA-Haploidentical Hematopoietic Stem Cell Transplantation for Acute Myelogenous Leukemia with t (16;21) (p11.2;q22)

Abstract

t(16;21)(p11;q22)is a rare non-random chromosomal abnormality found in approximately 1% of acute myelogenous leukemia(AML)cases. This chromosomal rearrangement results in FUS-ERG fusion transcripts. ERG, located at chromosome 21q22, is a member of the ets oncogene family. Correct ERG gene dosage is critical to maintain hematopoietic stem cell function. FUS, at chromosome 16p11, encodes an RNA-binding protein with extensive amino-acid sequence homology to EWS, which is derived from Ewing sarcoma. The FUS-ERG gene is produced by fusion of the 5’ end of FUS to the 3’ end of ERG. The FUS fusion domain regulates DNA-binding activity of the FUS-ERG chimeric protein, resulting in weaker transcriptional activation than that with normal ERG proteins. Dysregulation of normal ERG transcription by FUS-ERG fusion might contribute to the pathogenesis of AML with t(16;21)(p11;q22). AML with t(16;21)(p11;q22)occurs more often in younger individuals for reasons not fully understood. Buchanan et al. compiled 78 cases and reported that the median age was 25 years. AML with t (16;21)(p11;q22)has Case report