Acute Myeloid Leukemia with MYC Amplification on a Ring Chromosome 8

Abstract

MYC amplification and overexpression are uncommon in acute myeloid leukemia (AML). An 82-year-old man developed leukocytosis during monoclonal gammopathy of renal significance. A chromosomal analysis revealed 46,XY,+r(8)[20]. Amplified MYC signals were detected on chromosome 8. The patient was diagnosed with AML and administered venetoclax and azacitidine. After the third course, clones with ring chromosome 8 had decreased in number, but clones unrelated to t(8;21)(q22;q22) had subsequently emerged. After the sixth course, the white blood cell count had markedly increased, and a chromosome analysis showed replacement of ring chromosome 8 with 46,XY,t(8;21)[20]. This case highlights the role of MYC amplification and overexpression in AML and suggests that BCL2 inhibition is a potential treatment.